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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

  Error connecting to IGV?   HLCS_chr21_36743626_36971669  HLCS_chr21_36743626_36971669 (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 3141
ensemblid ENSG00000159267.17
hgncid 4976
symbol HLCS
name holocarboxylase synthetase
refseq_nuc NM_001352514.2
refseq_prot NP_001339443.1
ensembl_nuc ENST00000674895.3
ensembl_prot ENSP00000502087.2
mane_status MANE Select
chr chr21
start 36748626
end 36966669
strand -
ver v1.2
region chr21:36748626-36966669
region5000 chr21:36743626-36971669
regionname0 HLCS_chr21_36748626_36966669
regionname5000 HLCS_chr21_36743626_36971669

ahapid grch38/
chm13v2 		alen total AFR AMR EAS EUR SAS JPT regionname genename aa chr start end
a0001 1/1 873 230 65 54 74 10 25 55 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0002 0/0 873 18 12 1 4 0 1 3 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0003 0/0 873 4 3 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0004 0/0 726 1 0 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0005 0/0 873 1 1 0 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0006 0/0 873 1 0 0 1 0 0 1 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0007 0/0 873 1 0 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0008 0/0 873 1 0 0 1 0 0 1 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0009 0/0 873 1 1 0 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669

chapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
c0001 1/1 2622 202 51 49 70 8 22 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
c0002 0/0 2622 18 12 1 4 0 1 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
c0003 0/0 2622 10 1 3 3 2 1 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
c0004 0/0 2622 8 7 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
c0005 0/0 2622 4 3 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
c0006 0/0 2622 2 2 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
c0007 0/0 2622 2 1 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
c0008 0/0 2622 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
c0009 0/0 2622 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
c0010 0/0 2622 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
c0011 0/0 2622 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
c0012 0/0 2622 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
c0013 0/0 2622 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
c0014 0/0 2622 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
c0015 0/0 2622 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
c0016 0/0 2622 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
c0017 0/0 2622 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
c0018 0/0 2622 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
c0019 0/0 2292 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669

thapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
t0001 0/0 5652 26 0 12 13 1 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0002 1/0 5652 17 3 3 5 1 4 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0003 0/0 5647 11 0 0 8 0 3 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0004 0/0 5649 10 3 6 0 1 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0005 0/0 5647 10 2 0 7 0 1 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0006 0/0 5647 10 4 2 3 0 1 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0007 0/0 5653 8 0 3 1 3 1 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0008 0/0 5653 7 1 0 0 0 6 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0009 0/0 5650 5 0 4 0 1 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0010 0/0 5647 5 2 0 3 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0011 0/0 5652 5 0 0 5 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0012 0/0 5649 4 2 1 0 0 1 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0013 0/0 5655 4 2 0 2 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0014 0/0 5652 4 0 3 1 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0015 0/0 5651 4 4 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0016 0/0 5655 4 0 0 3 0 1 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0017 0/0 5654 3 3 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0018 0/0 5657 3 2 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0019 0/0 5654 3 2 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0020 0/0 5650 3 0 0 3 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0021 0/0 5651 3 0 1 2 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0022 0/0 5651 2 2 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0023 0/0 5649 2 2 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0024 0/0 5655 2 2 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0025 0/0 5653 2 2 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0026 0/0 5649 2 0 2 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0027 0/0 5652 2 1 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0028 0/0 5652 2 2 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0029 0/0 5649 2 2 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0030 0/0 5649 2 1 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0031 0/0 5653 2 2 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0032 0/0 5649 2 2 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0033 0/0 5656 2 2 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0034 0/0 5653 2 0 1 0 0 1 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0035 0/0 5654 2 0 0 2 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0036 0/0 5652 2 0 0 1 1 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0037 0/0 5651 2 1 0 0 1 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0038 0/0 5651 2 2 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0039 0/0 5655 2 0 0 2 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0040 0/0 5651 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0041 0/0 5651 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0042 0/0 5654 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0043 0/0 5649 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0044 0/0 5649 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0045 0/0 5652 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0046 0/0 5653 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0047 0/0 5653 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0048 0/0 5652 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0049 0/0 5652 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0050 0/0 5654 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0051 0/0 5655 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0052 0/0 5656 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0053 0/0 5651 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0054 0/0 5653 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0055 0/0 5647 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0056 0/0 5654 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0057 0/0 5652 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0058 0/0 5652 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0059 0/0 5651 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0060 0/0 5653 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0061 0/0 5647 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0062 0/0 5648 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0063 0/0 5647 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0064 0/0 5655 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0065 0/0 5654 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0066 0/0 5652 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0067 0/0 5653 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0068 0/0 5652 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0069 0/0 5651 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0070 0/0 5654 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0071 0/0 5657 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0072 0/0 5654 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0073 0/0 5654 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0074 0/0 5650 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0075 0/0 5647 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0076 0/0 5649 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0077 0/0 5652 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0078 0/0 5652 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0079 0/0 5652 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0080 0/0 5656 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0081 0/0 5649 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0082 0/0 5655 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0083 0/0 5655 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0084 0/1 5653 1 0 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0085 0/0 5654 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0086 0/0 5655 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0087 0/0 5653 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0088 0/0 5647 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0089 0/0 5647 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0090 0/0 5647 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0091 0/0 5651 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0092 0/0 5651 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0093 0/0 5654 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0094 0/0 5653 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0095 0/0 5652 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0096 0/0 5652 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0097 0/0 5652 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0098 0/0 5652 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0099 0/0 5647 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0100 0/0 5652 1 0 0 0 1 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0101 0/0 5651 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0102 0/0 5652 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0103 0/0 5652 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0104 0/0 5655 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0105 0/0 5649 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0106 0/0 5649 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0107 0/0 5647 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0108 0/0 5652 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0109 0/0 5651 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0110 0/0 5647 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0111 0/0 5652 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
t0112 0/0 5621 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669

ghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
g0001 0/0 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0002 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0003 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0004 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0005 0/0 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0006 0/0 1 0 0 0 1 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0007 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0008 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0009 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0010 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0011 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0012 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0013 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0014 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0015 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0016 0/0 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0017 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0018 0/0 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0019 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0020 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0021 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0022 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0023 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0024 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0025 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0026 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0027 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0028 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0029 0/0 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0030 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0031 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0032 0/0 1 0 0 0 1 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0033 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0034 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0035 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0036 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0037 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0038 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0039 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0040 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0041 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0042 0/0 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0043 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0044 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0045 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0046 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0047 0/0 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0048 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0049 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0050 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0051 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0052 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0053 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0054 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0055 0/0 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0056 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0057 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0058 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0059 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0060 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0061 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0062 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0063 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0064 0/0 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0065 0/0 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0066 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0067 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0068 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0069 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0070 0/0 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0071 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0072 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0073 0/0 1 0 0 0 1 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0074 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0075 0/1 1 0 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0076 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0077 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0078 0/0 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0079 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0080 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0081 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0082 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0083 0/0 1 0 0 0 1 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0084 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0085 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0086 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0087 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0088 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0089 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0090 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0091 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0092 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0093 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0094 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0095 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0096 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0097 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0098 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0099 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0100 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0101 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0102 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0103 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0104 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0105 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0106 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0107 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0108 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0109 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0110 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0111 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0112 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0113 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0114 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0115 0/0 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0116 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0117 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0118 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0119 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0120 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0121 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0122 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0123 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0124 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0125 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0126 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0127 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0128 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0129 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0130 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0131 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0132 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0133 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0134 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0135 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0136 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0137 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0138 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0139 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0140 0/0 1 0 0 0 1 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0141 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0142 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0143 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0144 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0145 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0146 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0147 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0148 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0149 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0150 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0151 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0152 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0153 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0154 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0155 0/0 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0156 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0157 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0158 0/0 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0159 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0160 0/0 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0161 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0162 0/0 1 0 0 0 1 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0163 0/0 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0164 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0165 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0166 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0167 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0168 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0169 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0170 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0171 0/0 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0172 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0173 0/0 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0174 0/0 1 0 0 0 1 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0175 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0176 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0177 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0178 0/0 1 0 0 0 1 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0179 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0180 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0181 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0182 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0183 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0184 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0185 0/0 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0186 0/0 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0187 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0188 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0189 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0190 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0191 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0192 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0193 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0194 0/0 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0195 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0196 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0197 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0198 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0199 0/0 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0200 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0201 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0202 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0203 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0204 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0205 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0206 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0207 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0208 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0209 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0210 0/0 1 0 0 0 1 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0211 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0212 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0213 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0214 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0215 0/0 1 0 0 0 1 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0216 1/0 1 0 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0217 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0218 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0219 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0220 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0221 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0222 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0223 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0224 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0225 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0226 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0227 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0228 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0229 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0230 0/0 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0231 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0232 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0233 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0234 0/0 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0235 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0236 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0237 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0238 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0239 0/0 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0240 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0241 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0242 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0243 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0244 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0245 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0246 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0247 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0248 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0249 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0250 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0251 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0252 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0253 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0254 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0255 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0256 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0257 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
g0258 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669

achapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
a0001c0001 1/1 2622 202 51 49 70 8 22 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0003 0/0 2622 10 1 3 3 2 1 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0004 0/0 2622 8 7 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0006 0/0 2622 2 2 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0007 0/0 2622 2 1 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0008 0/0 2622 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0010 0/0 2622 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0013 0/0 2622 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0015 0/0 2622 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0017 0/0 2622 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0018 0/0 2622 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0002c0002 0/0 2622 18 12 1 4 0 1 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0003c0005 0/0 2622 4 3 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0004c0019 0/0 2292 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0005c0011 0/0 2622 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0006c0016 0/0 2622 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0007c0014 0/0 2622 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0008c0012 0/0 2622 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0009c0009 0/0 2622 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669

acthapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
a0001c0001t0001 0/0 8273 25 0 12 12 1 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0002 1/0 8273 13 2 3 3 1 3 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0003 0/0 8268 8 0 0 6 0 2 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0004 0/0 8270 8 1 6 0 1 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0005 0/0 8268 10 2 0 7 0 1 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0006 0/0 8268 10 4 2 3 0 1 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0007 0/0 8274 4 0 1 1 1 1 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0008 0/0 8274 6 1 0 0 0 5 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0009 0/0 8271 5 0 4 0 1 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0010 0/0 8268 5 2 0 3 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0011 0/0 8273 4 0 0 4 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0012 0/0 8270 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0013 0/0 8276 3 1 0 2 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0014 0/0 8273 4 0 3 1 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0015 0/0 8272 3 3 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0016 0/0 8276 4 0 0 3 0 1 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0018 0/0 8278 2 1 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0019 0/0 8275 3 2 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0020 0/0 8271 3 0 0 3 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0021 0/0 8272 3 0 1 2 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0022 0/0 8272 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0024 0/0 8276 2 2 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0026 0/0 8270 2 0 2 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0028 0/0 8273 2 2 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0029 0/0 8270 2 2 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0030 0/0 8270 2 1 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0031 0/0 8274 2 2 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0032 0/0 8270 2 2 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0033 0/0 8277 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0034 0/0 8274 2 0 1 0 0 1 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0035 0/0 8275 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0036 0/0 8273 2 0 0 1 1 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0037 0/0 8272 2 1 0 0 1 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0038 0/0 8272 2 2 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0039 0/0 8276 2 0 0 2 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0044 0/0 8270 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0047 0/0 8274 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0049 0/0 8273 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0051 0/0 8276 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0053 0/0 8272 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0055 0/0 8268 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0056 0/0 8275 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0057 0/0 8273 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0059 0/0 8272 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0061 0/0 8268 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0063 0/0 8268 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0065 0/0 8275 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0066 0/0 8273 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0069 0/0 8272 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0071 0/0 8278 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0073 0/0 8275 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0074 0/0 8271 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0075 0/0 8268 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0076 0/0 8270 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0077 0/0 8273 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0078 0/0 8273 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0079 0/0 8273 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0080 0/0 8277 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0081 0/0 8270 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0082 0/0 8276 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0083 0/0 8276 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0084 0/1 8274 1 0 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0085 0/0 8275 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0086 0/0 8276 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0087 0/0 8274 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0088 0/0 8268 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0089 0/0 8268 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0090 0/0 8268 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0091 0/0 8272 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0093 0/0 8275 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0094 0/0 8274 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0095 0/0 8273 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0096 0/0 8273 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0097 0/0 8273 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0098 0/0 8273 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0099 0/0 8268 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0100 0/0 8273 1 0 0 0 1 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0101 0/0 8272 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0102 0/0 8273 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0103 0/0 8273 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0104 0/0 8276 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0105 0/0 8270 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0106 0/0 8270 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0107 0/0 8268 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0109 0/0 8272 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0001t0110 0/0 8268 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0003t0003 0/0 8268 2 0 0 1 0 1 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0003t0007 0/0 8274 3 0 1 0 2 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0003t0012 0/0 8270 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0003t0050 0/0 8275 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0003t0054 0/0 8274 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0003t0060 0/0 8274 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0003t0111 0/0 8273 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0004t0004 0/0 8270 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0004t0017 0/0 8275 3 3 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0004t0042 0/0 8275 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0004t0067 0/0 8274 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0004t0068 0/0 8273 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0004t0072 0/0 8275 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0006t0023 0/0 8270 2 2 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0007t0007 0/0 8274 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0007t0012 0/0 8270 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0008t0008 0/0 8274 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0010t0011 0/0 8273 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0013t0022 0/0 8272 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0015t0052 0/0 8277 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0017t0108 0/0 8273 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0001c0018t0004 0/0 8270 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0002c0002t0002 0/0 8273 3 0 0 2 0 1 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0002c0002t0003 0/0 8268 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0002c0002t0013 0/0 8276 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0002c0002t0015 0/0 8272 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0002c0002t0018 0/0 8278 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0002c0002t0025 0/0 8274 2 2 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0002c0002t0027 0/0 8273 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0002c0002t0040 0/0 8272 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0002c0002t0041 0/0 8272 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0002c0002t0043 0/0 8270 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0002c0002t0045 0/0 8273 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0002c0002t0046 0/0 8274 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0002c0002t0048 0/0 8273 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0002c0002t0062 0/0 8269 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0002c0002t0064 0/0 8276 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0003c0005t0002 0/0 8273 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0003c0005t0027 0/0 8273 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0003c0005t0058 0/0 8273 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0003c0005t0092 0/0 8272 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0004c0019t0112 0/0 7912 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0005c0011t0033 0/0 8277 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0006c0016t0001 0/0 8273 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0007c0014t0070 0/0 8275 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0008c0012t0035 0/0 8275 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669
a0009c0009t0012 0/0 8270 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS copy fasta chr21 36743626 36971669

actghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
a0001c0001t0001g0006 0/0 1 0 0 0 1 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0001g0010 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0001g0011 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0001g0017 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0001g0024 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0001g0027 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0001g0028 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0001g0036 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0001g0037 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0001g0040 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0001g0041 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0001g0043 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0001g0062 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0001g0066 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0001g0068 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0001g0071 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0001g0072 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0001g0074 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0001g0077 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0001g0079 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0001g0080 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0001g0092 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0001g0120 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0001g0122 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0001g0128 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0002g0158 0/0 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0002g0160 0/0 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0002g0165 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0002g0171 0/0 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0002g0172 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0002g0174 0/0 1 0 0 0 1 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0002g0179 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0002g0183 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0002g0193 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0002g0216 1/0 1 0 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0002g0232 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0002g0237 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0002g0238 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0003g0166 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0003g0173 0/0 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0003g0175 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0003g0184 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0003g0226 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0003g0228 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0003g0230 0/0 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0003g0244 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0004g0007 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0004g0009 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0004g0014 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0004g0015 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0004g0032 0/0 1 0 0 0 1 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0004g0045 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0004g0058 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0004g0138 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0005g0003 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0005g0004 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0005g0021 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0005g0052 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0005g0056 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0005g0086 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0005g0094 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0005g0113 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0005g0115 0/0 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0005g0135 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0006g0012 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0006g0019 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0006g0029 0/0 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0006g0085 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0006g0096 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0006g0109 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0006g0125 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0006g0127 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0006g0132 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0006g0256 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0007g0162 0/0 1 0 0 0 1 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0007g0170 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0007g0194 0/0 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0007g0227 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0008g0018 0/0 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0008g0055 0/0 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0008g0064 0/0 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0008g0065 0/0 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0008g0078 0/0 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0008g0084 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0009g0178 0/0 1 0 0 0 1 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0009g0201 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0009g0202 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0009g0235 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0009g0236 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0010g0164 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0010g0169 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0010g0213 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0010g0229 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0010g0249 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0011g0022 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0011g0103 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0011g0107 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0011g0118 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0012g0234 0/0 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0013g0223 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0013g0231 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0013g0240 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0014g0159 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0014g0181 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0014g0182 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0014g0241 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0015g0141 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0015g0190 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0015g0197 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0016g0047 0/0 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0016g0091 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0016g0098 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0016g0106 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0018g0176 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0018g0189 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0019g0061 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0019g0101 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0019g0247 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0020g0002 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0020g0034 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0020g0121 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0021g0076 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0021g0129 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0021g0130 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0022g0187 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0024g0191 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0024g0211 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0026g0250 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0026g0251 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0028g0167 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0028g0192 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0029g0051 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0029g0136 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0030g0048 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0030g0257 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0031g0057 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0031g0245 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0032g0081 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0032g0111 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0033g0104 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0034g0030 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0034g0070 0/0 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0035g0097 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0036g0123 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0036g0140 0/0 1 0 0 0 1 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0037g0083 0/0 1 0 0 0 1 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0037g0254 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0038g0054 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0038g0102 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0039g0033 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0039g0126 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0044g0161 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0047g0188 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0049g0233 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0051g0168 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0053g0186 0/0 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0055g0185 0/0 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0056g0198 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0057g0225 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0059g0180 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0061g0163 0/0 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0063g0208 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0065g0252 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0066g0059 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0069g0255 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0071g0089 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0073g0246 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0074g0087 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0075g0049 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0076g0090 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0077g0039 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0078g0108 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0079g0026 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0080g0093 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0081g0016 0/0 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0082g0112 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0083g0013 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0084g0075 0/1 1 0 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0085g0110 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0086g0044 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0087g0095 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0088g0105 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0089g0099 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0090g0005 0/0 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0091g0042 0/0 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0093g0133 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0094g0031 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0095g0117 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0096g0025 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0097g0038 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0098g0035 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0099g0124 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0100g0073 0/0 1 0 0 0 1 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0101g0008 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0102g0063 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0103g0100 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0104g0114 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0105g0053 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0106g0253 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0107g0050 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0109g0119 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0001t0110g0023 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0003t0003g0199 0/0 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0003t0003g0204 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0003t0007g0210 0/0 1 0 0 0 1 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0003t0007g0215 0/0 1 0 0 0 1 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0003t0007g0221 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0003t0012g0205 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0003t0050g0206 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0003t0054g0217 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0003t0060g0203 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0003t0111g0137 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0004t0004g0046 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0004t0017g0219 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0004t0017g0220 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0004t0017g0224 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0004t0042g0209 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0004t0067g0067 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0004t0068g0088 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0004t0072g0248 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0006t0023g0212 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0006t0023g0222 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0007t0007g0200 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0007t0012g0207 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0008t0008g0001 0/0 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0010t0011g0020 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0013t0022g0177 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0015t0052g0239 0/0 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0017t0108g0082 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0001c0018t0004g0060 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0002c0002t0002g0143 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0002c0002t0002g0154 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0002c0002t0002g0155 0/0 1 0 0 0 0 1 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0002c0002t0003g0156 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0002c0002t0013g0147 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0002c0002t0015g0142 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0002c0002t0018g0153 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0002c0002t0025g0146 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0002c0002t0025g0149 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0002c0002t0027g0157 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0002c0002t0040g0242 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0002c0002t0041g0148 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0002c0002t0043g0152 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0002c0002t0045g0151 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0002c0002t0046g0150 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0002c0002t0048g0144 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0002c0002t0062g0145 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0002c0002t0064g0243 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0003c0005t0002g0195 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0003c0005t0027g0218 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0003c0005t0058g0214 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0003c0005t0092g0134 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0004c0019t0112g0258 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0005c0011t0033g0139 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0006c0016t0001g0116 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0007c0014t0070g0131 0/0 1 0 1 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0008c0012t0035g0069 0/0 1 0 0 1 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
a0009c0009t0012g0196 0/0 1 1 0 0 0 0 HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669

sampleid ID
haplotypeid
 ahapid chapid thapid ghapid gpopname popname regionname genename chr start end
HG00280 hp1 a0001 c0001 t0100 g0073 EUR FIN HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG00280 hp2 a0001 c0001 t0009 g0178 EUR FIN HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG00323 hp1 a0001 c0003 t0007 g0215 EUR FIN HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG00323 hp2 a0001 c0001 t0007 g0162 EUR FIN HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG00438 hp1 a0001 c0001 t0001 g0068 EAS CHS HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG00438 hp2 a0001 c0001 t0103 g0100 EAS CHS HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG00639 hp1 a0002 c0002 t0041 g0148 AMR PUR HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG00639 hp2 a0001 c0001 t0001 g0079 AMR PUR HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG00673 hp1 a0001 c0001 t0016 g0091 EAS CHS HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG00673 hp2 a0001 c0001 t0014 g0241 EAS CHS HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG00735 hp1 a0001 c0004 t0042 g0209 AMR PUR HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG00735 hp2 a0001 c0001 t0074 g0087 AMR PUR HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG00738 hp1 a0001 c0001 t0101 g0008 AMR PUR HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG00738 hp2 a0001 c0001 t0034 g0030 AMR PUR HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG00741 hp1 a0007 c0014 t0070 g0131 AMR PUR HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG00741 hp2 a0001 c0001 t0030 g0048 AMR PUR HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG01070 hp1 a0001 c0001 t0059 g0180 AMR PUR HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG01070 hp2 a0001 c0001 t0001 g0128 AMR PUR HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG01071 hp1 a0001 c0001 t0089 g0099 AMR PUR HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG01071 hp2 a0001 c0001 t0002 g0172 AMR PUR HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG01081 hp1 a0001 c0001 t0004 g0014 AMR PUR HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG01081 hp2 a0001 c0001 t0083 g0013 AMR PUR HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG01099 hp1 a0001 c0001 t0077 g0039 AMR PUR HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG01099 hp2 a0001 c0001 t0093 g0133 AMR PUR HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG01106 hp1 a0001 c0003 t0012 g0205 AMR PUR HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG01106 hp2 a0001 c0001 t0066 g0059 AMR PUR HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG01109 hp1 a0001 c0001 t0019 g0061 AMR PUR HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG01109 hp2 a0001 c0007 t0007 g0200 AMR PUR HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG01168 hp1 a0001 c0003 t0007 g0221 AMR PUR HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG01168 hp2 a0001 c0001 t0014 g0182 AMR PUR HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG01169 hp1 a0001 c0001 t0014 g0181 AMR PUR HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG01169 hp2 a0001 c0001 t0001 g0074 AMR PUR HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG01175 hp1 a0001 c0001 t0004 g0138 AMR PUR HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG01175 hp2 a0003 c0005 t0092 g0134 AMR PUR HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG01192 hp1 a0001 c0001 t0014 g0159 AMR PUR HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG01192 hp2 a0001 c0001 t0004 g0058 AMR PUR HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG01243 hp1 a0001 c0001 t0004 g0015 AMR PUR HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG01243 hp2 a0001 c0001 t0004 g0007 AMR PUR HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG01255 hp1 a0001 c0001 t0009 g0235 AMR CLM HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG01255 hp2 a0001 c0003 t0050 g0206 AMR CLM HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG01256 hp1 a0001 c0001 t0004 g0009 AMR CLM HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG01256 hp2 a0001 c0001 t0009 g0202 AMR CLM HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG01257 hp1 a0001 c0001 t0001 g0024 AMR CLM HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG01257 hp2 a0001 c0001 t0026 g0251 AMR CLM HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG01258 hp1 a0001 c0001 t0026 g0250 AMR CLM HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG01258 hp2 a0001 c0001 t0009 g0201 AMR CLM HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG01346 hp1 a0001 c0001 t0001 g0122 AMR CLM HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG01346 hp2 a0001 c0001 t0096 g0025 AMR CLM HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG01361 hp1 a0001 c0001 t0001 g0071 AMR CLM HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG01361 hp2 a0001 c0001 t0009 g0236 AMR CLM HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG01433 hp1 a0001 c0001 t0001 g0041 AMR CLM HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG01433 hp2 a0001 c0001 t0021 g0076 AMR CLM HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG01496 hp1 a0001 c0001 t0007 g0170 AMR CLM HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG01496 hp2 a0001 c0001 t0095 g0117 AMR CLM HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG01515 hp1 a0001 c0001 t0004 g0032 EUR IBS HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG01515 hp2 a0001 c0001 t0037 g0083 EUR IBS HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG01516 hp1 a0001 c0001 t0001 g0006 EUR IBS HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG01516 hp2 a0001 c0001 t0036 g0140 EUR IBS HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG01884 hp1 a0001 c0001 t0022 g0187 AFR ACB HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG01884 hp2 a0001 c0001 t0105 g0053 AFR ACB HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG01891 hp1 a0001 c0004 t0067 g0067 AFR ACB HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG01891 hp2 a0001 c0001 t0008 g0084 AFR ACB HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG01952 hp1 a0001 c0001 t0001 g0040 AMR PEL HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG01952 hp2 a0001 c0001 t0018 g0189 AMR PEL HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG01975 hp1 a0001 c0001 t0006 g0109 AMR PEL HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG01975 hp2 a0001 c0001 t0001 g0062 AMR PEL HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG01978 hp1 a0001 c0001 t0002 g0165 AMR PEL HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG01978 hp2 a0001 c0001 t0001 g0036 AMR PEL HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG01981 hp1 a0001 c0001 t0082 g0112 AMR PEL HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG01981 hp2 a0004 c0019 t0112 g0258 AMR PEL HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG02027 hp1 a0001 c0001 t0001 g0037 EAS KHV HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG02027 hp2 a0001 c0001 t0021 g0130 EAS KHV HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG02040 hp1 a0001 c0001 t0007 g0227 EAS KHV HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG02040 hp2 a0001 c0001 t0104 g0114 EAS KHV HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG02080 hp1 a0001 c0001 t0013 g0231 EAS KHV HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG02080 hp2 a0001 c0001 t0005 g0004 EAS KHV HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG02083 hp1 a0001 c0001 t0020 g0034 EAS KHV HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG02083 hp2 a0001 c0001 t0001 g0120 EAS KHV HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG02129 hp1 a0001 c0003 t0054 g0217 EAS KHV HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG02129 hp2 a0001 c0001 t0001 g0028 EAS KHV HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG02135 hp1 a0001 c0001 t0102 g0063 EAS KHV HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG02135 hp2 a0002 c0002 t0027 g0157 EAS KHV HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG02145 hp1 a0001 c0006 t0023 g0222 AFR ACB HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG02145 hp2 a0001 c0001 t0032 g0111 AFR ACB HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG02257 hp1 a0001 c0007 t0012 g0207 AFR ACB HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG02257 hp2 a0001 c0001 t0032 g0081 AFR ACB HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG02280 hp1 a0001 c0001 t0063 g0208 AFR ACB HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG02280 hp2 a0002 c0002 t0025 g0146 AFR ACB HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG02300 hp1 a0001 c0001 t0001 g0043 AMR PEL HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG02300 hp2 a0001 c0001 t0002 g0183 AMR PEL HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG02523 hp1 a0001 c0001 t0001 g0011 EAS KHV HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG02523 hp2 a0001 c0001 t0016 g0098 EAS KHV HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG02572 hp1 a0001 c0001 t0002 g0193 AFR GWD HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG02572 hp2 a0001 c0001 t0038 g0102 AFR GWD HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG02602 hp1 a0002 c0002 t0002 g0155 SAS PJL HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG02602 hp2 a0001 c0001 t0008 g0055 SAS PJL HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG02615 hp1 a0001 c0001 t0005 g0135 AFR GWD HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG02615 hp2 a0001 c0001 t0030 g0257 AFR GWD HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG02622 hp1 a0001 c0018 t0004 g0060 AFR GWD HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG02622 hp2 a0001 c0001 t0106 g0253 AFR GWD HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG02647 hp1 a0009 c0009 t0012 g0196 AFR GWD HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG02647 hp2 a0001 c0004 t0017 g0224 AFR GWD HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG02683 hp1 a0001 c0001 t0091 g0042 SAS PJL HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG02683 hp2 a0001 c0001 t0003 g0173 SAS PJL HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG02717 hp1 a0001 c0001 t0031 g0057 AFR GWD HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG02717 hp2 a0001 c0003 t0111 g0137 AFR GWD HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG02723 hp1 a0002 c0002 t0015 g0142 AFR GWD HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG02723 hp2 a0001 c0001 t0010 g0213 AFR GWD HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG02809 hp1 a0001 c0001 t0029 g0136 AFR GWD HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG02809 hp2 a0001 c0001 t0069 g0255 AFR GWD HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG02818 hp1 a0001 c0004 t0004 g0046 AFR GWD HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG02818 hp2 a0001 c0001 t0029 g0051 AFR GWD HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG02886 hp1 a0001 c0001 t0015 g0197 AFR GWD HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG02886 hp2 a0001 c0001 t0018 g0176 AFR GWD HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG02895 hp1 a0001 c0001 t0006 g0096 AFR GWD HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG02895 hp2 a0001 c0001 t0047 g0188 AFR GWD HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG02896 hp1 a0001 c0004 t0017 g0220 AFR GWD HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG02896 hp2 a0001 c0013 t0022 g0177 AFR GWD HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG02897 hp1 a0001 c0001 t0006 g0127 AFR GWD HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG02897 hp2 a0001 c0004 t0017 g0219 AFR GWD HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG02922 hp1 a0001 c0001 t0010 g0249 AFR ESN HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG02922 hp2 a0001 c0001 t0038 g0054 AFR ESN HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG02965 hp1 a0001 c0001 t0015 g0190 AFR ESN HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG02965 hp2 a0001 c0001 t0109 g0119 AFR ESN HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG02976 hp1 a0001 c0001 t0006 g0132 AFR ESN HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG02976 hp2 a0005 c0011 t0033 g0139 AFR ESN HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG03041 hp1 a0002 c0002 t0064 g0243 AFR GWD HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG03041 hp2 a0001 c0001 t0065 g0252 AFR GWD HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG03098 hp1 a0001 c0001 t0013 g0223 AFR MSL HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG03098 hp2 a0001 c0001 t0024 g0191 AFR MSL HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG03130 hp1 a0001 c0001 t0051 g0168 AFR ESN HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG03130 hp2 a0001 c0001 t0006 g0256 AFR ESN HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG03139 hp1 a0001 c0001 t0028 g0192 AFR ESN HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG03139 hp2 a0002 c0002 t0013 g0147 AFR ESN HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG03195 hp1 a0001 c0017 t0108 g0082 AFR ESN HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG03195 hp2 a0001 c0004 t0068 g0088 AFR ESN HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG03209 hp1 a0001 c0001 t0056 g0198 AFR MSL HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG03209 hp2 a0002 c0002 t0062 g0145 AFR MSL HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG03225 hp1 a0001 c0001 t0028 g0167 AFR MSL HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG03225 hp2 a0001 c0001 t0024 g0211 AFR MSL HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG03239 hp1 a0001 c0001 t0008 g0018 SAS PJL HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG03239 hp2 a0001 c0001 t0006 g0029 SAS PJL HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG03453 hp1 a0001 c0001 t0015 g0141 AFR MSL HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG03453 hp2 a0001 c0001 t0107 g0050 AFR MSL HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG03490 hp1 a0001 c0001 t0008 g0064 SAS PJL HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG03490 hp2 a0001 c0001 t0002 g0158 SAS PJL HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG03492 hp1 a0001 c0001 t0008 g0065 SAS PJL HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG03492 hp2 a0001 c0001 t0055 g0185 SAS PJL HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG03516 hp1 a0001 c0001 t0073 g0246 AFR ESN HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG03516 hp2 a0002 c0002 t0048 g0144 AFR ESN HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG03540 hp1 a0001 c0001 t0033 g0104 AFR GWD HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG03540 hp2 a0003 c0005 t0058 g0214 AFR GWD HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG03579 hp1 a0003 c0005 t0027 g0218 AFR MSL HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG03579 hp2 a0002 c0002 t0046 g0150 AFR MSL HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG03669 hp1 a0001 c0003 t0003 g0199 SAS PJL HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG03669 hp2 a0001 c0001 t0002 g0160 SAS PJL HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG03704 hp1 a0001 c0001 t0081 g0016 SAS PJL HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG03704 hp2 a0001 c0001 t0061 g0163 SAS PJL HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG03710 hp1 a0001 c0001 t0016 g0047 SAS PJL HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG03710 hp2 a0001 c0015 t0052 g0239 SAS PJL HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG03831 hp1 a0001 c0001 t0002 g0171 SAS BEB HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG03831 hp2 a0001 c0001 t0007 g0194 SAS BEB HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG03927 hp1 a0001 c0001 t0008 g0078 SAS BEB HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG03927 hp2 a0001 c0001 t0053 g0186 SAS BEB HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG04115 hp1 a0001 c0001 t0034 g0070 SAS STU HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG04115 hp2 a0001 c0001 t0005 g0115 SAS STU HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG04204 hp1 a0001 c0001 t0012 g0234 SAS STU HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG04204 hp2 a0001 c0001 t0090 g0005 SAS STU HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG04228 hp1 a0001 c0008 t0008 g0001 SAS STU HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG04228 hp2 a0001 c0001 t0003 g0230 SAS STU HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA18522 hp1 a0002 c0002 t0045 g0151 AFR YRI HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA18522 hp2 a0002 c0002 t0018 g0153 AFR YRI HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA18612 hp1 a0001 c0001 t0006 g0085 EAS CHB HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA18612 hp2 a0001 c0001 t0088 g0105 EAS CHB HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA18939 hp1 a0001 c0001 t0013 g0240 EAS JPT HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA18939 hp2 a0001 c0001 t0011 g0107 EAS JPT HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA18940 hp1 a0008 c0012 t0035 g0069 EAS JPT HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA18940 hp2 a0001 c0001 t0005 g0094 EAS JPT HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA18941 hp1 a0001 c0001 t0094 g0031 EAS JPT HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA18941 hp2 a0001 c0001 t0039 g0126 EAS JPT HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA18942 hp1 a0001 c0001 t0005 g0056 EAS JPT HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA18942 hp2 a0001 c0001 t0078 g0108 EAS JPT HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA18944 hp1 a0001 c0001 t0010 g0169 EAS JPT HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA18944 hp2 a0001 c0001 t0005 g0086 EAS JPT HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA18945 hp1 a0001 c0001 t0005 g0003 EAS JPT HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA18945 hp2 a0001 c0001 t0016 g0106 EAS JPT HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA18947 hp1 a0001 c0001 t0011 g0118 EAS JPT HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA18947 hp2 a0001 c0003 t0060 g0203 EAS JPT HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA18948 hp1 a0001 c0001 t0001 g0027 EAS JPT HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA18948 hp2 a0001 c0001 t0001 g0080 EAS JPT HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA18950 hp1 a0001 c0001 t0005 g0021 EAS JPT HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA18950 hp2 a0001 c0001 t0003 g0228 EAS JPT HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA18951 hp1 a0002 c0002 t0002 g0154 EAS JPT HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA18951 hp2 a0001 c0001 t0003 g0175 EAS JPT HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA18952 hp1 a0001 c0001 t0036 g0123 EAS JPT HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA18952 hp2 a0001 c0001 t0003 g0244 EAS JPT HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA18959 hp1 a0001 c0001 t0001 g0077 EAS JPT HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA18959 hp2 a0001 c0001 t0001 g0010 EAS JPT HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA18961 hp1 a0002 c0002 t0003 g0156 EAS JPT HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA18961 hp2 a0001 c0001 t0086 g0044 EAS JPT HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA18967 hp1 a0001 c0001 t0010 g0229 EAS JPT HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA18967 hp2 a0001 c0001 t0097 g0038 EAS JPT HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA18968 hp1 a0001 c0001 t0110 g0023 EAS JPT HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA18968 hp2 a0001 c0001 t0002 g0179 EAS JPT HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA18970 hp1 a0001 c0010 t0011 g0020 EAS JPT HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA18970 hp2 a0001 c0001 t0005 g0113 EAS JPT HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA18971 hp1 a0001 c0001 t0079 g0026 EAS JPT HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA18971 hp2 a0001 c0003 t0003 g0204 EAS JPT HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA18975 hp1 a0001 c0001 t0098 g0035 EAS JPT HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA18975 hp2 a0001 c0001 t0011 g0103 EAS JPT HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA18977 hp1 a0001 c0001 t0011 g0022 EAS JPT HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA18977 hp2 a0001 c0001 t0049 g0233 EAS JPT HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA18979 hp1 a0001 c0001 t0057 g0225 EAS JPT HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA18979 hp2 a0001 c0001 t0080 g0093 EAS JPT HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA18984 hp1 a0001 c0001 t0003 g0226 EAS JPT HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA18984 hp2 a0001 c0001 t0021 g0129 EAS JPT HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA18989 hp1 a0006 c0016 t0001 g0116 EAS JPT HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA18989 hp2 a0001 c0001 t0087 g0095 EAS JPT HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA18993 hp1 a0001 c0001 t0001 g0066 EAS JPT HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA18993 hp2 a0001 c0001 t0010 g0164 EAS JPT HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA19004 hp1 a0001 c0001 t0020 g0002 EAS JPT HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA19004 hp2 a0001 c0001 t0003 g0166 EAS JPT HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA19009 hp1 a0001 c0001 t0006 g0019 EAS JPT HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA19009 hp2 a0001 c0001 t0002 g0232 EAS JPT HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA19030 hp1 a0001 c0001 t0019 g0101 AFR LWK HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA19030 hp2 a0001 c0001 t0099 g0124 AFR LWK HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA19043 hp1 a0001 c0001 t0005 g0052 AFR LWK HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA19043 hp2 a0001 c0006 t0023 g0212 AFR LWK HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA19057 hp1 a0001 c0001 t0020 g0121 EAS JPT HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA19057 hp2 a0001 c0001 t0039 g0033 EAS JPT HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA19068 hp1 a0001 c0001 t0001 g0017 EAS JPT HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA19068 hp2 a0001 c0001 t0003 g0184 EAS JPT HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA19074 hp1 a0001 c0001 t0006 g0012 EAS JPT HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA19074 hp2 a0001 c0001 t0035 g0097 EAS JPT HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA19084 hp1 a0001 c0001 t0002 g0237 EAS JPT HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA19084 hp2 a0001 c0001 t0076 g0090 EAS JPT HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA19088 hp1 a0002 c0002 t0002 g0143 EAS JPT HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA19088 hp2 a0001 c0001 t0001 g0092 EAS JPT HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA19240 hp1 a0001 c0001 t0019 g0247 AFR YRI HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA19240 hp2 a0001 c0001 t0071 g0089 AFR YRI HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA20129 hp1 a0003 c0005 t0002 g0195 AFR ASW HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA20129 hp2 a0001 c0001 t0002 g0238 AFR ASW HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA20805 hp1 a0001 c0003 t0007 g0210 EUR TSI HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
NA20805 hp2 a0001 c0001 t0002 g0174 EUR TSI HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG01123 hp1 a0001 c0001 t0006 g0125 AMR CLM HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG01123 hp2 a0001 c0001 t0001 g0072 AMR CLM HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG02109 hp1 a0001 c0001 t0075 g0049 AFR ACB HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG02109 hp2 a0001 c0001 t0037 g0254 AFR ACB HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG02486 hp1 a0001 c0001 t0004 g0045 AFR ACB HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG02486 hp2 a0001 c0001 t0044 g0161 AFR ACB HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG02559 hp1 a0001 c0001 t0031 g0245 AFR ACB HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG02559 hp2 a0002 c0002 t0040 g0242 AFR ACB HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG03471 hp1 a0002 c0002 t0043 g0152 AFR MSL HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG03471 hp2 a0001 c0004 t0072 g0248 AFR MSL HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG06807 hp1 a0002 c0002 t0025 g0149 AFR USA HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
HG06807 hp2 a0001 c0001 t0085 g0110 AFR USA HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
homoSapiens_chm13v2 hp1 a0001 c0001 t0084 g0075 REF REF HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669
homoSapiens_grch38 hp1 a0001 c0001 t0002 g0216 REF REF HLCS_chr21_36743626_36971669 HLCS chr21 36743626 36971669

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
chr21:36754403 T
T
 C
C
 1 a0007
a0007
 1 HG00741.hp1
HG00741.hp1
 missense_variant MODERATE c.2465A>G
c.2465A>G
 p.His822Arg
p.His822Arg
 HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 11/11 2496/8273 2465/2622 822/873 chr21 36754403
chr21:36756563 T
T
 C
C
 1 a0006
a0006
 1 NA18989.hp1
NA18989.hp1
 missense_variant MODERATE c.2429A>G
c.2429A>G
 p.Tyr810Cys
p.Tyr810Cys
 HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 10/11 2460/8273 2429/2622 810/873 chr21 36756563
chr21:36765164 C
C
 T
T
 2 a0003
a0007
a0003
a0007
 5 HG00741.hp1
HG01175.hp2
HG03540.hp2
others(2): Show 
HG00741.hp1
HG01175.hp2
HG03540.hp2
HG03579.hp1
NA20129.hp1
 missense_variant MODERATE c.1969G>A
c.1969G>A
 p.Gly657Arg
p.Gly657Arg
 HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 8/11 2000/8273 1969/2622 657/873 chr21 36765164
chr21:36767231 C
C
 A
A
 1 a0008
a0008
 1 NA18940.hp1
NA18940.hp1
 missense_variant MODERATE c.1947G>T
c.1947G>T
 p.Gln649His
p.Gln649His
 HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 7/11 1978/8273 1947/2622 649/873 chr21 36767231
chr21:36767233 G
G
 A
A
 1 a0008
a0008
 1 NA18940.hp1
NA18940.hp1
 stop_gained HIGH c.1945C>T
c.1945C>T
 p.Gln649*
p.Gln649*
 HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 7/11 1976/8273 1945/2622 649/873 chr21 36767233
chr21:36767235 C
C
 A
A
 1 a0008
a0008
 1 NA18940.hp1
NA18940.hp1
 missense_variant MODERATE c.1943G>T
c.1943G>T
 p.Arg648Leu
p.Arg648Leu
 HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 7/11 1974/8273 1943/2622 648/873 chr21 36767235
chr21:36767239 C
C
 T
T
 1 a0008
a0008
 1 NA18940.hp1
NA18940.hp1
 missense_variant MODERATE c.1939G>A
c.1939G>A
 p.Ala647Thr
p.Ala647Thr
 HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 7/11 1970/8273 1939/2622 647/873 chr21 36767239
chr21:36767241 G
G
 A
A
 1 a0008
a0008
 1 NA18940.hp1
NA18940.hp1
 missense_variant MODERATE c.1937C>T
c.1937C>T
 p.Ala646Val
p.Ala646Val
 HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 7/11 1968/8273 1937/2622 646/873 chr21 36767241
chr21:36767242 C
C
 T
T
 1 a0008
a0008
 1 NA18940.hp1
NA18940.hp1
 missense_variant MODERATE c.1936G>A
c.1936G>A
 p.Ala646Thr
p.Ala646Thr
 HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 7/11 1967/8273 1936/2622 646/873 chr21 36767242
chr21:36767244 A
A
 T
T
 1 a0008
a0008
 1 NA18940.hp1
NA18940.hp1
 missense_variant MODERATE c.1934T>A
c.1934T>A
 p.Ile645Asn
p.Ile645Asn
 HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 7/11 1965/8273 1934/2622 645/873 chr21 36767244
chr21:36930397 G
G
 T
T
 1 a0009
a0009
 1 HG02647.hp1
HG02647.hp1
 missense_variant MODERATE c.1474C>A
c.1474C>A
 p.Gln492Lys
p.Gln492Lys
 HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/11 1505/8273 1474/2622 492/873 chr21 36930397
chr21:36937159 C
C
 T
T
 2 a0002
a0005
a0002
a0005
 19 HG00639.hp1
HG02135.hp2
HG02280.hp2
others(16): Show 
HG00639.hp1
HG02135.hp2
HG02280.hp2
HG02559.hp2
HG02602.hp1
HG02723.hp1
HG02976.hp2
HG03041.hp1
HG03139.hp2
HG03209.hp2
HG03471.hp1
HG03516.hp2
HG03579.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18951.hp1
NA18961.hp1
NA19088.hp1
 missense_variant MODERATE c.727G>A
c.727G>A
 p.Val243Ile
p.Val243Ile
 HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/11 758/8273 727/2622 243/873 chr21 36937159
chr21:36937319 C
C
 A
A
 1 a0002
a0002
 18 HG00639.hp1
HG02135.hp2
HG02280.hp2
others(15): Show 
HG00639.hp1
HG02135.hp2
HG02280.hp2
HG02559.hp2
HG02602.hp1
HG02723.hp1
HG03041.hp1
HG03139.hp2
HG03209.hp2
HG03471.hp1
HG03516.hp2
HG03579.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18951.hp1
NA18961.hp1
NA19088.hp1
 missense_variant MODERATE c.567G>T
c.567G>T
 p.Glu189Asp
p.Glu189Asp
 HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/11 598/8273 567/2622 189/873 chr21 36937319
chr21:36938961 C
C
 T
T
 1 a0009
a0009
 1 HG02647.hp1
HG02647.hp1
 missense_variant MODERATE c.364G>A
c.364G>A
 p.Ala122Thr
p.Ala122Thr
 HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 3/11 395/8273 364/2622 122/873 chr21 36938961
chr21:36958222 GACAGAGT
others(13440): Show 
GACAGAGTGAGACTGTCTCAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAA
AGAAAATTAGCCCTGAGTTCACCAAAACCGTCGTATCAACAGCTGGTCGT
CTTCTACCAAACATAAGAGACACAAGTACTGTTTGACTGGACCTAGGTTA
ATAAAAGCTTTATTTTGGAATCTCAATGATCTAGATCTCTTTAAAACCAT
TAATTCGTTCTCTAGTTACTAGAAAGGATAGAAGCATTGGTTAAAATCTT
ATCTCTCACTTAGCAGCTGGTTAAAACCTTGTCTAGGCCGGGAACAGTGG
CTCACGCCTGTAATCCTAGCACTTTGGGAGCCTGAGGCAGGCAGATTGCC
TGAGCTCAGGAGTTCGAGACCAGCCTGGGCAACACGGTGAAACCCGGTCT
CTGCTAAAATACAAACAATTAGCTGGGCGTGGCAGCGTGCGCCTGTAGTC
CCAGCTACTTGGGAGGGTGAGGCAGGAGAATTGCTTGAACCCGGGAGGTG
GAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCAACA
CAGCAAGACTCCATCTCCAAAAAAAAAAGAAAGAAAACTTTGTCTGTCAC
TTAGCAATGATATTCCTATCACTTTAGGAATGTCATTTAATCTTATAACC
TAAGTTTTCTTATCTTCAAAATGGCAATAATAATAATGATAATACTTTGT
AGAGCCGTTAAGTATTAGTGATGACAGCTGCAGCCAGTCTGGAGCAGGGT
AGGCGCGGCCAGGGATACGCGCTCTGTGGAACCAGGGGGAGCTGGGAGCA
GGCAGGAGCCCTTCCCGCTTCTGAGTTGGCAGGGCAGGAGCCCAGTGCTC
CCAGGCATAACTGCAGCCTCCCAGCCACAGCTGCGGACCTGGGCATCCCT
GCACTCTCAGGGGTCCCAGAGGCCCCCGCTTCCCCACAGGCTTGGAAGTG
CCTGATCCCGCTGCCTGGCCTCTTCCTGCTCCCTGTGCCCGCTCTGATTC
TGGAGCAAAATTGAAGCTGAGCCTGGGCGGTGTCGCAACCCGGCCAGGTG
GGTGCTGCTCAGGATGGCGCTGACACACCAGCCCCCTGCCACCTCAGCCC
CCCTCTAGACTTTAGGAGCCACTCTGGACCACGAGGATGGGAGGGAGGCC
GAGGAGGGGCTGAGGACGGCTGGTTGCAGGCCTGTAGGCACCCCTCAGCA
CAAACAGCCTGGGCACCTTGGACAACATGACTGACAGCAGAAGGCAGACA
GGCTCATAGGTAGAAAGGGGCGGGTCCCTGGTGACGCCCTGCCTTCAAGC
CAAGACCAGCCCAAAACCTGGGGACCTGGCTGTCAGTTCCAGGTGAAGCC
TGTGGCCCAGAGTGAGAACTTAGAGTGCTTTTTCTGGCCCGCCCATGGCT
GCCCATGGACCAATCAGCACGCGCTTCCTCCCTTCTGAGCCCATGAAAAC
CTCAGACCCAGCCAGACTCACACAGAGGCTGGGACTACCAGCTGCAGAAA
GGAGCTACCCACTTCAGGTCTCCTGAGAGCTGTTCTGCCACTCAGTGAAG
TTCCTCTCTGCCTTGCTCACCCTCCACATACCTCATTCTTCCTGGATGCA
GGACAATAACTCAGGACCCACCGAATGGCAGTACTAAAAGAGCTGTAAGA
CAAACCAGGGCTGAAACATGTCCCCGTACTCACTACATTGCAGGCAACAA
GAAGGAGAGAAGAACTGTGGCCCTTTAAGAAGCCAAGATCTAGGGGCTCC
CCAAGCCAAGGCTGTAAACACCCTCTTTGGGGCTCTGCGGTTCCCAGCGT
CTCCATGCTTCCAGGTGCCACCATGTTCCCCTTGTCCAGACACAGGTGCC
CACAGCAAAAGCCTCATTCAGTACACCTGGTCCAGCCACAGCCTTGCATG
GAGCCACCCACCCCCCCCCCCCCCGACCCTGCACTTCTCACCCACACACC
CCTTGCCGCTCTGCACCCAGCTTGCCCCTGGTAGGTGTGCAATCTGAGCT
GGTAGAATGAGCTGAGTGCAGCCTGCCAGGCCAAGTGGGTGGAATAAGAC
CAGTGGGCACAAGCAATACTTAGGCAGAAGGCACCGCTAGCCACAGAGGT
TTCTGTCTGGTGAAACGACACCCCAAGGATCCTGTGACATTAGGGGTAAC
GTTTATAAAATACCTAGCAAGGGCTCAATAAATGGCTTATTATTATCATA
AGTGTCTACAGGGCTAAACGAAACATTACAAACCTTCAGGAGAGAACGTA
CTGTCTTAACACACTGCACTGCTCCAGGCCCATCTGCCTGATGCTCTGCC
CGCTCCAGGGCCCCCATCAGAAAGTCTCTCGCTATCCTATACTATCTGCA
CCTGCCTCCCCTTATTTTGGTTCACCCTGAATTCCAGTCAATTACTTCTT
GTTTACTTCCCCATTTTTCTTCTTCTCTCAATACAGCATCTTACAGATAA
TCTTCATGAAATGGGAATCCAGTAAACATGGCTAGCATCAGCAAAATCCC
CACTGGATGATCTACATAGCAGGGAACAATGGCGGGTGAGGACCCACAAG
TGAGGGGAAGGAAGCTGCAAGGGTACACTGGGGTCAGACCTCCAGGAGCC
TCAGGGCATGGACTGCACCTGGAGGGATGACATCCACCAAAAGCTTATGC
AACACTGTCCCAACTGGATGTGGGTCCAGAATGACTAACTCTGGCCATCA
AGAGGAATGCCCAAAGAAGGGACATGAGACAGGGTATTTTCACAGCTCAG
ACAAAAGATAATGAACATGAGGATGGAATGAGGAGCAGTGGAGATGAAGG
AGAGGAGCTAACAATTTAGGGAGTGCTGTTACAACTCATAACTTCACGGA
AGCGAGGAGGAGGTGCGAGGAAAAGCCGGCTGGCGTGTTAATTTGGGATT
TTCTCTCTTTGAAGCAGAAGAATACAAACACAACTCATTTTGGACATGTG
GCTGAGGTTGAAGTATTTTCAGAATACTCAAGGAAAGACGTTTAGGACGT
AGGTGGTGATATACCCCAGCCACTCAGGTTGATTTAGGAAGCAAGAAATT
GTAGGAATGGATGAGATGACCTGAGAGAGAGTGCTGCTCAATAAAAATAT
AACGTGAGCCACAAATACAAGCCACACACGTGGTTTTAACTTTCCTAGCA
GTGACCAGGCGTGGTGGCTAACATCTCTAATCCAAGTATTTTGGGAGGCT
GAGGAGGTAGGATCCCTGGAGCCCTGAGTTTGAGGCTTCAGTGAGCTATA
ATGACCACTGTACTCCAGCCTAGGTGACACAATAAGACCCTGTCTGAAAA
ATAATAACAATAAATTTTTCTAGCAGCCACATTAAAAACATAAAAAGAAA
CAGGTGAAAATAATTTTACTAATATATTTAACCCAAAATATCCAAAGAGA
AAGGGAGCCACAAAGGCTAGGAAAGAGCACTCATAAAAAGACAAATTTGA
GGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGA
GGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTAGCCAACAT
GGCAAAACCCTGACTCTACTAAAAATACAAAAATTAGCCTGGTGTGGTGG
CACACGCCTGTAGTCCTAGCTACTCTGGAGGCTGAGGCATGAGAATCACT
TGAACCCAGGAGGCGGAGGTCCCAGTGAGCCGAGATCACACCACTGCACT
CCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAGGAAAAAAAAAAAAAAA
GCAAATTTGGTTTTGACTAAGACACATCAGTTCCTTATGGGACACAAGTA
AACATGGTACTCACTGTTTCTGAAGAGGATGATCTCTGTAAATTCTCACT
TTGTACCCAAATGCTCTCCGTCACAAATGCTATGTGTTCTGCTTCAAGTA
TAAAAGGAGACACAAGAAATAGGGCCCACTTGTTCAAGTCTTCAATGGAC
TGTATAGAGGGAAAGAAATATAATGAGATTGTCACTTCATACCACAACTG
CCATAAATTTCAACCCCCTCTGAAACATACCCTCCCCTATAATTCCAAGT
GACATGGAAATAAGCTTATCTGATGCTCCTCTGCAGGCCGCAGGAACCGT
GTGTTTCTTGTTTAGCTGTGACTGTTTAAGCACCTGCAAAAGCCCATCGA
TGACTCAGGACAGCTTTAATATCTCTAGACCACTGTTTTCAAGCCATGAA
TTCTGAAACGGGGCCTATCCCCGCCATTCCTCACTGCTTAGCACACAGTA
GCTAACCGGGAAGTACATTTAAAGATGAGGAGGCTGGCCGGCACAGTGGC
TCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGTGGGCAGATCGCTT
GAGCCCAGGAGTTCAAGACCACCCTGGCCAACATGGTGAAACCTTATCTC
TACAAAAAACATACCAAAAAAATGAGTTGGGCATGGGGGTGGGTGCCTGT
AGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTCGAGCCTGGGA
GCCCGAGGTTGCAGTGAGATGAGATCATGCCACTGCACTCCAGCCTTGGG
TGACAGAGTGAGACCCTATCTCAAAAAAAAAAAAAAAAAAAAAAGATGAG
GAGGCCTAGAAGTACGTACCCACCAACAGAAGCTCCTTACTCACAGAAGC
CTGAAGGGCTGTTCCTTCATTCCCTACAGCCATCACAGCACAGGGCACCA
GGCAGTTTTTCTTTACACCTTCCTTATAGTGAAATCAACCCTGCTCCTCT
CCCGGAGATCTGGGAAGTGTGCAAGTCTCTGGATGCTCACACAGCAGTTA
AATCCAGAGAGAAAAGCTATTTCAGGGAAAGGCATTTACCATATGCAGAC
GCAATCAGACATACTTTAATGGAATGTAAACTCCAGTCAGGAGTGATTGT
AGTTTTTCAAAAAGAAGATTAGAATCAAGATTGGTTAGCAAATCAGAAAT
ACCCAGTTATCTCTCGTTTTCTTTCCTGAAATCTCTCTAAGAAAAACAGC
AAATTGATTTGAAAAGGCTTTCACATACAGGATATAGCCAGAGAAGAAAA
AGATGAAATCTGAGCGGGGTATGCAGGAGGCTTTCACCATCACCCAGAAC
GAAGGTAACTAGGCAGGCTCCACTGTGCTGCATATCAGTTCAAATCTGCT
TGATAAAAACCTATTGAACTAAATAATGAATGAAAATTTAGGGGAGAATT
TGCCCCTCCCTCAGTAAACATAATTATCAATATAGTGGTTAAAAAGTATG
TCCACTTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGG
GAGGCTGAGGCACCTAAGGTTGGGAATTGGAGACCAGCCTGACCAACATG
AAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTG
CATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATCATTTG
AACCCGGGAGGCAGAAGTTGCGGGGAGCCGAGATCGTGCCATTGCACTCT
AGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAGTATGTCCAC
TTTATCCAAGCATAGAATGTGTACATTAAACAGACAAAAAGCTTGATACT
GCCAATTTGTATAAACTGTCTTTGGTTAAACTTATCAATTGATTGTAGGG
CATTCAATTATAAACACACATATTCAGTATTCATGCATTTGATTTTAAGT
GTATAACATATGAGAACACGCCAGGCTTGGTGGCTCACACCTGTAATCCC
AGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAGGAGTTTGA
GACCAGCCTGGCCAACACTTTGGTGAAACCCTGTCTCTACTAAAAATACA
AAAATTAGCCAGGCGTGGTGGCTCATGCCTGTAATCCCAGCTACTCAGGA
CGCCAAAGGAGGAGAATCACTTGAACCTGGGAGGTGGAGATTGCAGTGAG
CGGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAATGAGATCCATC
TCAACATATGGGCATGAGATTCAGGTGTGTCCTTATTTCAGCCCAAGTAG
ACTGAGGTATCCCTCAAAAGTAGACCCAAGCAGACTGAGATATCCACCAA
ATCATCAACCTGATCATATTTTAAATCTCAAAATAACAGTAGCCAACCAC
AAATAAATGGTCAAGCTTTCCACCTGTAGACCTTCAACATCACAGCTTAA
ACCCAACAACTATTAAATTTACTATTTCAGGTCAAGCTGCTATGCTAAAC
AGTCTCATTTCCTAATAAGAAAAAGATACGAACTAGAATAGGAACTGTGA
TTTAAAGGCTACAGGGATGCAGAGCATGGCCATCCCATCTAGTCTGGAAA
ACTAGGAAATGACGCAGCAATATCTAACCAAATCTGTAGGCAAAGCTTAC
TGTGCAGAGTGACAGAGCAGAGTTACAGAATCCATGAAAGCACCAGGCCA
CTCCTACTCCGGCCTGCACAGGTAGGCAAGGGCTGAAAATCACTAGTTAT
GGTTAGTGTAGTTAACAGAAGGCCAGCGGAGTCATGAAAATGTTCAAAAG
TAAAACTGTCCAAGAAAATCAGACATTCCCATCTCCATGTTTTTATATGT
CCAAAATTTCTATTCTGACTTAAATCCTAAATGTAATTGATCCAATTTGG
AAACTACTACAAAAAGCTCACCCCTCAATTTTTTGCCATTTTATTGAGTT
ATCTTTCTCAATCAGGTTAATTCCCAACGCTCTAAGCCATACATTGTATG
TAATGCATGAACTTCTTCCCCTTTTGTCTGGGTAGTGTCAGTTATGTGGA
GGTGGTACTAGTTATTTGCATAACTAGTACCTTGGGGGACCTGAGAAAAC
AGTCATTCATATTCAGTGTGACATAATACATATATGGTACTAACAAGAAA
GAGTATTTTTTATTTGCTAGTGGCACAATTTCAACCCATATCTAAGCACA
GCCTCCAGGCAATGTTCAAACCTGAGATAAGATTCAATTCCCCACAGGGG
CTTTACGGTGTGACATATGCAGAAAACGTCATTTTAGTGCTAAAAGTGAG
GCAATATTCCAGAAAACAGAGGAAAGGGACAAGAAACAGATTAAAAGCAA
AACACGTTTAAATATTAATGAGAACAATGCTACCGATGTCCATGAAATTT
TGTGCAGTACTGCACTGTGAAGCTAAGCCCATTTCCAAAAACAGCTGAAT
GGAAAGATCTATTGTTCCCTTTACAGCAAGGCAGCAGACTTTTTACAGAG
ATTAATTGACTGGCCCAAGTCACAAGGTAGGTGACAGAGTGGGCTGAACA
CGTAACCACCATCCTAAGCACTGGGTCAAAAAAAACAAAGGCTGACTGTC
AACTGAAATTTAAAAGACGCAAAGACCATCAGTCGGGTGCCCAAGTTGGT
GAATGATGCAACCAACTGACAGAAGATGGAGAGGGAAAAGGGCAGTTTTT
GTAAATTTGGGGACATCTGACAAAAAGCTGATGACACAGGTGGGAGTTTT
TTGTTTGGGATTTTTTTTTTTTTTTCTTAAGACAGGGTCTTGCTTTGTCA
CCCAGACTGGAGTGCAATGGCTCAATCATAGCTCACTGTAGCTTCAAACT
CCGGGGCTCAAGTGAACCTCCCGGGATCAAGTGACCCTCCCGCCTCACCC
TCCAGAGTAGCTGGGACTACAGGCGCGTGCCACCACGCCGACCTAAGTGT
TTTTTTTGTTTTGTTTTTTGTAGAGAGGGGTCTAGCTATGTTGCCCAGGC
TGGTCTCCATCTCCTGGGCTCAAAGCTGTCCTTCCTCCTAGGCCTCCCAG
AGTGCAGGGATTACAGGCATAAGCCACCGCTCCCGGCCCGCCACAGCTGT
CTCTCCTGGTTCACGGTCACCCAAACGCCGGCTCGAAGTGTGGGAGAGGA
GGTTGGGGGCGACCCCAGGTGGGCACTGCTGGCGTCCGGCTGTCAATCCA
CAGCTCACGTCCTCACAGGTGCGCGCCTAGAGTCACGCGTCCAGCACCGC
CCGGCTGGCCGGGAAGAGGCGACCGGGTCCGTGGTCCGAGTCCCGCACCT
CCGGCCTCTCTCTGGGCCCCGGGGCAACAGCCCCTCCCGGGCCGCACAGG
CCGCACTGAGGGCGCCACTCCGGGGCTCCCGAACTCCCGGGCTCCCGGCG
GGGACGAGGCGCAGGGACGGGGGCACTTCCGGCTCGCGGGGCCCGGGTCG
CCCGCCCGCCCGACCCGCCCACCTGGCTGTCGCTGACGCAGAAGACGCGG
CCGCCACGGCTCAGGCACACGCGGGCGCCCGGGGGCTGCGCGGCCGCGCC
GCAGAAGGTGAAGGAACAGCGCGAGGCACGCAGCCGCCGCACCGTGGCGC
GCACGAGCTCAGCCGGCCGGCGACCCCAGCGCGCCCACAGGTACAGGTAG
CACAGCGTGATGAGCATGGCCGCGCCGCCGGCAGGGCGAGCCCGCCTTGC
CCGCCCGCCCCAGCGCCCCAGGCCCGGCCCCGCCCCGGCCGGAAGGGCCG
CGCCGCCCCCCCGGGCCAGGCGGCGCGGGGGTGGGGACGGCGGGGGAGGC
GGGGACCCGGAAGGTGACGCGGGCAACTGGAGGCTGCGGCGGGAGGGGCG
GGGGGGGGTGAGGCCGCGCCCGGCTGTGTGATGGGGAGCTCCGGAGGCCG
CGCCCAGGGCTGGTGGCGGCGGCGAGGGGCAGCGCTGGGGCGGGGGGTGT
GCACCGGGGTCAGGGGACGCCGGGGCTGCACCCGGAGAGGGGGCTCGAGG
GAGTGGAGGCCGGGGTGCGGGGCCGCGCCAGGGCTGAGGAGTGGGATGGG
TATGTTGTGGATGCGGGGGAGGGGAGGCTCCAGTGGCTGCCCGACCTGTT
TAAGCCAAGTCCGGCCTCCCTTCCTTGGAGGGGTGGGAGGCGGATTGAGG
AGGGGGCTCTGCCTATGTTCATAGCTGCCAAGGCCAACCTTTACTAACCA
GCAGCACACCGGGAGTCCCAGAGCGCTCCACAGCCGCTACCCAGTCGACT
TGGGAAAATAAGATAAGGCCGTTTTTATTAAATTATACTAAGCCTTCATG
CAAAAGATTTTAAGGTCAATCACATACATTCACGGGATGCAATAATGTTT
TTTTAAATAAGGACAGGAAACAGAAATTGAAGACAGATAAGCACCAAGAA
GGCTGCCTCTAAAAAGGCTGTGCCAGGAAGGCTCCCTATGGTGTTCTTGC
TACATGTGGGTCAACAGTTTGACTGTAAGCATCCTAACACCAGTGGGAAA
AGGAAAACATCACCATGATTTGGTGTTCTTGTCTCCAAGGGAAGCATAAT
TAGTCCTGACACAGAGGCTTCTCCCATAGAACCTCATTTCTTTAAAAGGC
ATTATGTAAAGAACGTGTTCTGAACAGCTGCGAAGCACAGCAAAGAATTC
CATCCAGTGGCTTCCTATTCTGGCCCTCGCTGAAAATAGGTGGCAAGATG
CAGCAAAAGCAATCATGTACACCACGTCCATGTCTTAATCTAAGGATAGT
TTTTGTTTGTTTGTTTTTGAGACAGTCTCTCTCTGTCACCCAGGCTGGAG
TGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCAAG
CGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCGTC
ACCATGCCTGGCTAACTTTTGTATTTTTAGTAGAGACAGGGTTTCACCAC
GTTGGCCAGGGTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTC
TGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACCGCGCCCAGCTAG
GATAGATTTTTTTTAAGAGACAAGGTTTCGTTCTGTCGCCCAGGCTGGAG
TGCCGTGGCATAATCACAGCTCTCTGCAGCTTCGAACTCTGAGCTGAAGT
GATCTTCCTGGCCACCATGCCCAGCTAATTTTTTAGAAATTATTTTTCAT
AGAGACAGGGTCTCGCTGTGTCGCCCAGGCTGGTCTCAAACTCCTGGTCT
CGAGCAGTCAAACTCCTGCCTGGATCTCCCAAAGTGCTGGGATTACAAGT
TTGAGCCATGGCGCCTAGCCATAAAGATAGATTTTTAAAGTACCTTGGCC
ATTTGTTCATCTGCTTTAATATAGCTGCATAGAACACCCACTCCCAGAAC
TTCAGACTTTTGGTTAGATAACATAGTATATTTTCCCCCTTGCATATAGC
GATAGATTTTTAAAAGAGAGAAAATCCAAAAAGAAATAACTGGGCTTAAA
AGCAAGCATCTCTGTGGACCAGAAATAGAAGAAAAACAAAGTGATAAACA
GGACTAAAGCCATATCCTACACTTCTCTACAGGACAGTGGCAGCCGGAAA
GTGGGTTCCTGCATGGTAACAAGACCTTAAAATTGTGTCACTGGAGAAGG
ACGTGCAGTTCCCGCTGAGGAGAGACTTGGCCACTCCAGGACAACACAGG
ACTACAAGTCAGGAATTTGAAGATGAAAAGTGCTCAACAGTGATAAATCC
TAAATGTTTCACTGAACAACCTTTCAGATAGCCTTCTTGAAGTTTGCTGA
ATTATGGCTATAAGGACCACTCCCCACCCCTGCTAGGTATGGAGAGGTCA
TCTCCTCTATCTGAAGGTGACCAACATCTCCAGTTTTTCCAAATTCCCTA
AGGGTTTTGAGACCACACCTTCCCACAGGTACTCTAACTCCACCTGGCCA
ATAGGAATTTTCTAGGTTTACCCTTAGGTGTTTCGAGATATGGTCTCAGA
ATACATCATGGGAAAATTACATTTTGGGGTCAATCCTGTATACCAATTCT
AGGTTAAAAGCATGGGGACCACCATGGTTCAACATGAGCTGACCCTTGCA
TTGAAGAGTACTGATACCATTCATGCCTGGGGAAGGAATAGAGGGAGGAA
GATATGAAGGGCACAGTGAGAAGTGAAACAGTCACATAACAAGCTCTGTT
TATGATCCCGCCCTAAAATGATTTCATTTTGCAAAGGTCAAGGATAGAGT
TGAGTTTCATCACCCCTATATAACAAAGGAATAGGGGAAGGATGCAAAAA
TAATACACCAAGGGATATTAATGTGTATGCACCTGATCCTCATCCTGTAG
TCCCTCACTGCTCAAAGTGTGGTCCTTAGAGCAGCAGCAGCAGCATCACT
TGGAAGCTCGCAAGAAAAGCGGAATCCTAGGCCCCACCCAACCCCAAATC
AGCGTCTGCATTTTGACAAAATCCCAGGAGACTCACAAACACATTAAAGT
TAGAGAAGCACTGCTAACATCTTCCTCTGTCATTCCCTGGGTCTGGGCTA
CTCTAGACTCTAATAAGACATTTCCAAAATGATGTGGAAAATAAGACCAC
AGACTAGGGATTTTTTTTTTTTTTTTTAGATGAAGTCTCACTTGCCCAGG
TTGGAGTGCAGCGCGATCTCAGCTCACTGCAACGTCCGCCTCCCAAGTTC
AAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCACAT
GCCACCACACCTGGCTAATTTGTGTATTTTTAGTAGAGATGGGGTTTCAC
CATGTTGGCCAGGCTGGTCTCAAACTCCTAACCTCAGGTGATCGTCCCAC
CTCAGCCTCCCAACGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGT
CAGACTAGGGATTTAGAAGCAAGACTTTGTCATTTATAAGAACACTGCAG
AAAGGAACAAGAATGACCCAGCTAGCCACTGAAGACCACCTCTGAAACCC
ATCAACATGACCGGCTTTCTATAGGAAAAGTCTCCACAGACTCAAAAAGT
CTCTAGTTTCTTGCCCTTAGGAAGGCATGCCCTGGGAATAATAGTTTGGG
GACAAGAGAGAGTAGAGTGTTTACTGTCCTATCCCCCATTAAATACATGG
CAGAACTTCCCCAGGGAAAGCCTATCATACTGACATTAACTCAGTACCTG
TTTGAACTTGGAGAGCATTCAGAATTCTCATCAGTCAAATGGCCAGAGCT
GAGAAGGATAGCTTGTTTTGTTTGTTTTTGAGACAGGGTCTTGCTATGTC
ACCCAGGCTGGAGGGCAGTGGTGCAATCCCGACTCACTGCAGCCTCGACC
TCGTGGGCTCAAGCAATCCTCCCTCCTCAGTTTCCCAAAGTGTTGGGATT
ACAGGCATGAGCCACCACACCTGGCTAATTTTTGTATTTTTTGTAGAGAC
AAGGTTTTACCCTGTTGCCCAGGCTGGTTTCCAACTCCTGAGCTCAAGCC
ATCTGCCCACCTTAGCCTCCCAAAGTTGTGGGATTACAGGCACATGCCAC
CACACCTGGCTAATTTTTATATTTTTTTGTAGAGACAGGATTTTGCCATG
TTGCCCAGGCTTGTCTCGAACTCCTGGATTCAAGCAATCTACCCGCCTCG
GCCTCCCAAAGTACCGGGATTACAAGCGTGAGCCACCGTGCCCAGCCTGG
GATACTTTCTAAGAACCAAGGAACTATGTAGAAAATCTTCGCCGGGCACA
GTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGAT
CACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGT
CTCTATTAAAAAATACAAAAAAGTTAGCCAGGCGTGGTGGCGGGCGCCTG
TAATCCCAGCTACTGAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGG
AGGCGGAGCTTGTAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGG
CGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAGAAAGAAAAGAAAAT
CTTGATCTCTATTCAGTAACTTTAATACGTATATTAACATGTTCTTGTTT
TTGGAACAATCGTCAAATCAAGCAAAAAGTAATTTTATTTTGTTAATCAA
AATAAAGAGAAAAGTAGACAATATTTAGAGCATCAAAAGAATTTAAATTA
GAACATCTTTAACTATTGGAAATATGCATTTGAACTCATGTCTTTAAGAG
GAAAATAATTATCTTTCCTAGCTCTTTCACTGAGATGGCCTCAGAGTAGC
CTTACCCCAAGATGCACCTGAGTGCTCAGATTCTTGAATGGGTGCTCTTC
TCCTCATTACAAGGAACTAGAAATCCTTGGAGAAATCACTGATTCTGGTG
TTCAAGAGATACCAGATAAGCTGGAACATCTTATGCTAGGAAGCAGGAGA
AGCTTCAAAGAAAAATAGGTCCAGGCAGAAGGATGCAGGAGACAAGCTAG
AAGTGCCAAATCAGGACGATTTGAGTATCAAATTGAAATACACCCAATTA
TGAAGGTACCCAATTTTCAAGAGCCGGCTGGGCGCGGTGGCTCACACCTG
TAATCCTACCACTCTGGGAGACTGAGGCGGGCAGATCACCTGAAATCAAG
AGTTCAAGACCAGCCTGGGCAACATGGCGAAACCCCATCTCTACTAAA
 G
G
 1 a0004
a0004
 1 HG01981.hp2
HG01981.hp2
 exon_loss_variant HIGH c.-5031_330+3813del
c.-5031_330+3813del
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/11 chr21 36958222

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
chr21:36754285 G
G
 A
A
 1 a0001c0015
a0001c0015
 1 HG03710.hp2
HG03710.hp2
 synonymous_variant LOW c.2583C>T
c.2583C>T
 p.Phe861Phe
p.Phe861Phe
 HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 11/11 2614/8273 2583/2622 861/873 chr21 36754285
chr21:36756631 G
G
 A
A
 3 a0001c0004
a0001c0006
a0009c0009
a0001c0004
a0001c0006
a0009c0009
 11 HG00735.hp1
HG01891.hp1
HG02145.hp1
others(8): Show 
HG00735.hp1
HG01891.hp1
HG02145.hp1
HG02647.hp1
HG02647.hp2
HG02818.hp1
HG02896.hp1
HG02897.hp2
HG03195.hp2
HG03471.hp2
NA19043.hp2
 synonymous_variant LOW c.2361C>T
c.2361C>T
 p.Val787Val
p.Val787Val
 HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 10/11 2392/8273 2361/2622 787/873 chr21 36756631
chr21:36767236 G
G
 T
T
 1 a0008c0012
a0008c0012
 1 NA18940.hp1
NA18940.hp1
 synonymous_variant LOW c.1942C>A
c.1942C>A
 p.Arg648Arg
p.Arg648Arg
 HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 7/11 1973/8273 1942/2622 648/873 chr21 36767236
chr21:36767237 G
G
 A
A
 1 a0008c0012
a0008c0012
 1 NA18940.hp1
NA18940.hp1
 synonymous_variant LOW c.1941C>T
c.1941C>T
 p.Ala647Ala
p.Ala647Ala
 HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 7/11 1972/8273 1941/2622 647/873 chr21 36767237
chr21:36767240 C
C
 G
G
 1 a0008c0012
a0008c0012
 1 NA18940.hp1
NA18940.hp1
 synonymous_variant LOW c.1938G>C
c.1938G>C
 p.Ala646Ala
p.Ala646Ala
 HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 7/11 1969/8273 1938/2622 646/873 chr21 36767240
chr21:36767240 C
C
 T
T
 1 a0001c0013
a0001c0013
 1 HG02896.hp2
HG02896.hp2
 synonymous_variant LOW c.1938G>A
c.1938G>A
 p.Ala646Ala
p.Ala646Ala
 HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 7/11 1969/8273 1938/2622 646/873 chr21 36767240
chr21:36930377 G
G
 A
A
 2 a0001c0006
a0001c0017
a0001c0006
a0001c0017
 3 HG02145.hp1
HG03195.hp1
NA19043.hp2
HG02145.hp1
HG03195.hp1
NA19043.hp2
 synonymous_variant LOW c.1494C>T
c.1494C>T
 p.Asn498Asn
p.Asn498Asn
 HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/11 1525/8273 1494/2622 498/873 chr21 36930377
chr21:36936611 G
G
 A
A
 2 a0001c0003
a0001c0007
a0001c0003
a0001c0007
 12 HG00323.hp1
HG01106.hp1
HG01109.hp2
others(9): Show 
HG00323.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01255.hp2
HG02129.hp1
HG02257.hp1
HG02717.hp2
HG03669.hp1
NA18947.hp2
NA18971.hp2
NA20805.hp1
 synonymous_variant LOW c.1275C>T
c.1275C>T
 p.Ser425Ser
p.Ser425Ser
 HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/11 1306/8273 1275/2622 425/873 chr21 36936611
chr21:36936812 C
C
 T
T
 1 a0001c0007
a0001c0007
 2 HG01109.hp2
HG02257.hp1
HG01109.hp2
HG02257.hp1
 synonymous_variant LOW c.1074G>A
c.1074G>A
 p.Thr358Thr
p.Thr358Thr
 HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/11 1105/8273 1074/2622 358/873 chr21 36936812
chr21:36936986 C
C
 T
T
 1 a0001c0006
a0001c0006
 2 HG02145.hp1
NA19043.hp2
HG02145.hp1
NA19043.hp2
 synonymous_variant LOW c.900G>A
c.900G>A
 p.Arg300Arg
p.Arg300Arg
 HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/11 931/8273 900/2622 300/873 chr21 36936986
chr21:36937160 G
G
 A
A
 1 a0001c0018
a0001c0018
 1 HG02622.hp1
HG02622.hp1
 synonymous_variant LOW c.726C>T
c.726C>T
 p.Pro242Pro
p.Pro242Pro
 HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/11 757/8273 726/2622 242/873 chr21 36937160
chr21:36937190 A
A
 G
G
 1 a0001c0010
a0001c0010
 1 NA18970.hp1
NA18970.hp1
 synonymous_variant LOW c.696T>C
c.696T>C
 p.Pro232Pro
p.Pro232Pro
 HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/11 727/8273 696/2622 232/873 chr21 36937190
chr21:36966474 G
G
 T
T
 1 a0001c0008
a0001c0008
 1 HG04228.hp1
HG04228.hp1
 synonymous_variant LOW c.165C>A
c.165C>A
 p.Gly55Gly
p.Gly55Gly
 HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 1/11 196/8273 165/2622 55/873 chr21 36966474

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
chr21:36748722 T
T
 C
C
 1 a0001c0001t0096
a0001c0001t0096
 1 HG01346.hp2
HG01346.hp2
 3_prime_UTR_variant MODIFIER c.*5524A>G
c.*5524A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 11/11 5524 chr21 36748722
chr21:36748831 A
A
 G
G
 1 a0001c0001t0095
a0001c0001t0095
 1 HG01496.hp2
HG01496.hp2
 3_prime_UTR_variant MODIFIER c.*5415T>C
c.*5415T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 11/11 5415 chr21 36748831
chr21:36749115 C
C
 T
T
 1 a0001c0001t0057
a0001c0001t0057
 1 NA18979.hp1
NA18979.hp1
 3_prime_UTR_variant MODIFIER c.*5131G>A
c.*5131G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 11/11 5131 chr21 36749115
chr21:36749236 T
T
 C
C
 60 a0001c0001t0003
a0001c0001t0004
a0001c0001t0005
others(57): Show 
a0001c0001t0003
a0001c0001t0004
a0001c0001t0005
a0001c0001t0006
a0001c0001t0007
a0001c0001t0008
a0001c0001t0009
a0001c0001t0010
a0001c0001t0012
a0001c0001t0020
a0001c0001t0021
a0001c0001t0022
a0001c0001t0026
a0001c0001t0031
a0001c0001t0032
a0001c0001t0034
a0001c0001t0044
a0001c0001t0053
a0001c0001t0055
a0001c0001t0059
a0001c0001t0061
a0001c0001t0063
a0001c0001t0066
a0001c0001t0069
a0001c0001t0073
a0001c0001t0074
a0001c0001t0075
a0001c0001t0076
a0001c0001t0081
a0001c0001t0084
a0001c0001t0085
a0001c0001t0088
a0001c0001t0089
a0001c0001t0090
a0001c0001t0091
a0001c0001t0097
a0001c0001t0099
a0001c0001t0101
a0001c0001t0105
a0001c0001t0107
a0001c0001t0110
a0001c0003t0003
a0001c0003t0007
a0001c0003t0012
a0001c0004t0004
a0001c0004t0017
a0001c0006t0023
a0001c0007t0007
a0001c0007t0012
a0001c0008t0008
a0001c0013t0022
a0001c0018t0004
a0002c0002t0003
a0002c0002t0025
a0002c0002t0041
a0002c0002t0045
a0002c0002t0062
a0003c0005t0058
a0003c0005t0092
a0009c0009t0012
 123 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(120): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00639.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01361.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01975.hp1
HG02027.hp2
HG02040.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02976.hp1
HG03130.hp2
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03490.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp2
HG03669.hp1
HG03704.hp1
HG03704.hp2
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18612.hp2
NA18940.hp2
NA18942.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp2
NA18961.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18970.hp2
NA18971.hp2
NA18984.hp1
NA18984.hp2
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19068.hp2
NA19074.hp1
NA19084.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*5010A>G
c.*5010A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 11/11 5010 chr21 36749236
chr21:36749271 G
G
 A
A
 10 a0001c0001t0018
a0001c0001t0033
a0001c0001t0056
others(7): Show 
a0001c0001t0018
a0001c0001t0033
a0001c0001t0056
a0001c0001t0065
a0001c0001t0071
a0001c0004t0042
a0002c0002t0018
a0002c0002t0046
a0002c0002t0064
a0005c0011t0033
 11 HG00735.hp1
HG01952.hp2
HG02886.hp2
others(8): Show 
HG00735.hp1
HG01952.hp2
HG02886.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03209.hp1
HG03540.hp1
HG03579.hp2
NA18522.hp2
NA19240.hp2
 3_prime_UTR_variant MODIFIER c.*4975C>T
c.*4975C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 11/11 4975 chr21 36749271
chr21:36749278 A
A
 G
G
 1 a0001c0001t0095
a0001c0001t0095
 1 HG01496.hp2
HG01496.hp2
 3_prime_UTR_variant MODIFIER c.*4968T>C
c.*4968T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 11/11 4968 chr21 36749278
chr21:36749423 C
C
 G
G
 1 a0002c0002t0062
a0002c0002t0062
 1 HG03209.hp2
HG03209.hp2
 3_prime_UTR_variant MODIFIER c.*4823G>C
c.*4823G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 11/11 4823 chr21 36749423
chr21:36749444 CTGACT
CTGACT
 C
C
 34 a0001c0001t0003
a0001c0001t0004
a0001c0001t0005
others(31): Show 
a0001c0001t0003
a0001c0001t0004
a0001c0001t0005
a0001c0001t0006
a0001c0001t0009
a0001c0001t0010
a0001c0001t0012
a0001c0001t0020
a0001c0001t0026
a0001c0001t0032
a0001c0001t0055
a0001c0001t0061
a0001c0001t0063
a0001c0001t0074
a0001c0001t0075
a0001c0001t0076
a0001c0001t0081
a0001c0001t0088
a0001c0001t0089
a0001c0001t0090
a0001c0001t0099
a0001c0001t0105
a0001c0001t0106
a0001c0001t0107
a0001c0001t0110
a0001c0003t0003
a0001c0003t0012
a0001c0004t0004
a0001c0006t0023
a0001c0007t0012
a0001c0018t0004
a0002c0002t0003
a0002c0002t0062
a0009c0009t0012
 80 HG00280.hp2
HG00735.hp2
HG01071.hp1
others(77): Show 
HG00280.hp2
HG00735.hp2
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01123.hp1
HG01175.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01361.hp2
HG01515.hp1
HG01884.hp2
HG01975.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02486.hp1
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02683.hp2
HG02723.hp2
HG02818.hp1
HG02895.hp1
HG02897.hp1
HG02922.hp1
HG02976.hp1
HG03130.hp2
HG03209.hp2
HG03239.hp2
HG03453.hp2
HG03492.hp2
HG03669.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18940.hp2
NA18942.hp1
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp2
NA18961.hp1
NA18967.hp1
NA18968.hp1
NA18970.hp2
NA18971.hp2
NA18984.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19068.hp2
NA19074.hp1
NA19084.hp2
 3_prime_UTR_variant MODIFIER c.*4797_*4801delAGTC
others(1): Show 
c.*4797_*4801delAGTCA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 11/11 4797 chr21 36749444
chr21:36749448 C
C
 CT
CT
 19 a0001c0001t0013
a0001c0001t0016
a0001c0001t0024
others(16): Show 
a0001c0001t0013
a0001c0001t0016
a0001c0001t0024
a0001c0001t0029
a0001c0001t0030
a0001c0001t0039
a0001c0001t0044
a0001c0001t0082
a0001c0001t0083
a0001c0001t0087
a0001c0001t0094
a0001c0001t0104
a0001c0003t0054
a0001c0003t0060
a0001c0004t0067
a0001c0015t0052
a0002c0002t0013
a0002c0002t0043
a0002c0002t0046
 28 HG00673.hp1
HG00741.hp2
HG01081.hp2
others(25): Show 
HG00673.hp1
HG00741.hp2
HG01081.hp2
HG01891.hp1
HG01981.hp1
HG02040.hp2
HG02080.hp1
HG02129.hp1
HG02486.hp2
HG02523.hp2
HG02615.hp2
HG02809.hp1
HG02818.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03225.hp2
HG03471.hp1
HG03579.hp2
HG03710.hp1
HG03710.hp2
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18945.hp2
NA18947.hp2
NA18989.hp2
NA19057.hp2
 3_prime_UTR_variant MODIFIER c.*4797dupA
c.*4797dupA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 11/11 4797 chr21 36749448
chr21:36749448 C
C
 CTT
CTT
 6 a0001c0001t0033
a0001c0001t0056
a0001c0001t0065
others(3): Show 
a0001c0001t0033
a0001c0001t0056
a0001c0001t0065
a0001c0001t0080
a0001c0004t0042
a0005c0011t0033
 6 HG00735.hp1
HG02976.hp2
HG03041.hp2
others(3): Show 
HG00735.hp1
HG02976.hp2
HG03041.hp2
HG03209.hp1
HG03540.hp1
NA18979.hp2
 3_prime_UTR_variant MODIFIER c.*4796_*4797dupAA
c.*4796_*4797dupAA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 11/11 4797 chr21 36749448
chr21:36749448 C
C
 CTTT
CTTT
 4 a0001c0001t0018
a0001c0001t0071
a0002c0002t0018
others(1): Show 
a0001c0001t0018
a0001c0001t0071
a0002c0002t0018
a0002c0002t0064
 5 HG01952.hp2
HG02886.hp2
HG03041.hp1
others(2): Show 
HG01952.hp2
HG02886.hp2
HG03041.hp1
NA18522.hp2
NA19240.hp2
 3_prime_UTR_variant MODIFIER c.*4795_*4797dupAAA
c.*4795_*4797dupAAA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 11/11 4797 chr21 36749448
chr21:36749448 CT
CT
 C
C
 26 a0001c0001t0007
a0001c0001t0008
a0001c0001t0015
others(23): Show 
a0001c0001t0007
a0001c0001t0008
a0001c0001t0015
a0001c0001t0021
a0001c0001t0022
a0001c0001t0031
a0001c0001t0034
a0001c0001t0037
a0001c0001t0038
a0001c0001t0047
a0001c0001t0053
a0001c0001t0059
a0001c0001t0069
a0001c0001t0084
a0001c0001t0091
a0001c0001t0101
a0001c0001t0109
a0001c0003t0007
a0001c0007t0007
a0001c0008t0008
a0001c0013t0022
a0002c0002t0015
a0002c0002t0025
a0002c0002t0040
a0002c0002t0041
a0003c0005t0092
 45 HG00323.hp1
HG00323.hp2
HG00639.hp1
others(42): Show 
HG00323.hp1
HG00323.hp2
HG00639.hp1
HG00738.hp1
HG00738.hp2
HG01070.hp1
HG01109.hp2
HG01168.hp1
HG01175.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01884.hp1
HG01891.hp2
HG02027.hp2
HG02040.hp1
HG02109.hp2
HG02280.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02683.hp1
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03239.hp1
HG03453.hp1
HG03490.hp1
HG03492.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04228.hp1
HG06807.hp1
NA18984.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*4797delA
c.*4797delA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 11/11 4797 chr21 36749448
chr21:36749466 T
T
 G
G
 1 a0007c0014t0070
a0007c0014t0070
 1 HG00741.hp1
HG00741.hp1
 3_prime_UTR_variant MODIFIER c.*4780A>C
c.*4780A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 11/11 4780 chr21 36749466
chr21:36749583 G
G
 A
A
 4 a0001c0001t0055
a0001c0001t0061
a0001c0001t0081
others(1): Show 
a0001c0001t0055
a0001c0001t0061
a0001c0001t0081
a0001c0001t0090
 4 HG03492.hp2
HG03704.hp1
HG03704.hp2
others(1): Show 
HG03492.hp2
HG03704.hp1
HG03704.hp2
HG04204.hp2
 3_prime_UTR_variant MODIFIER c.*4663C>T
c.*4663C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 11/11 4663 chr21 36749583
chr21:36749605 G
G
 A
A
 1 a0001c0001t0093
a0001c0001t0093
 1 HG01099.hp2
HG01099.hp2
 3_prime_UTR_variant MODIFIER c.*4641C>T
c.*4641C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 11/11 4641 chr21 36749605
chr21:36749870 T
T
 C
C
 1 a0002c0002t0046
a0002c0002t0046
 1 HG03579.hp2
HG03579.hp2
 3_prime_UTR_variant MODIFIER c.*4376A>G
c.*4376A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 11/11 4376 chr21 36749870
chr21:36750010 C
C
 T
T
 1 a0001c0001t0085
a0001c0001t0085
 1 HG06807.hp2
HG06807.hp2
 3_prime_UTR_variant MODIFIER c.*4236G>A
c.*4236G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 11/11 4236 chr21 36750010
chr21:36750113 T
T
 G
G
 26 a0001c0001t0013
a0001c0001t0016
a0001c0001t0030
others(23): Show 
a0001c0001t0013
a0001c0001t0016
a0001c0001t0030
a0001c0001t0035
a0001c0001t0039
a0001c0001t0044
a0001c0001t0076
a0001c0001t0079
a0001c0001t0080
a0001c0001t0081
a0001c0001t0083
a0001c0001t0088
a0001c0001t0098
a0001c0001t0099
a0001c0001t0102
a0001c0001t0104
a0001c0003t0054
a0001c0003t0060
a0001c0004t0067
a0001c0004t0068
a0001c0015t0052
a0002c0002t0013
a0002c0002t0043
a0002c0002t0045
a0002c0002t0046
a0008c0012t0035
 33 HG00673.hp1
HG00741.hp2
HG01081.hp2
others(30): Show 
HG00673.hp1
HG00741.hp2
HG01081.hp2
HG01891.hp1
HG02040.hp2
HG02080.hp1
HG02129.hp1
HG02135.hp1
HG02486.hp2
HG02523.hp2
HG02615.hp2
HG03098.hp1
HG03139.hp2
HG03195.hp2
HG03471.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
NA18522.hp1
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp2
NA18945.hp2
NA18947.hp2
NA18971.hp1
NA18975.hp1
NA18979.hp2
NA19030.hp2
NA19057.hp2
NA19074.hp2
NA19084.hp2
 3_prime_UTR_variant MODIFIER c.*4133A>C
c.*4133A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 11/11 4133 chr21 36750113
chr21:36750168 G
G
 A
A
 1 a0001c0001t0100
a0001c0001t0100
 1 HG00280.hp1
HG00280.hp1
 3_prime_UTR_variant MODIFIER c.*4078C>T
c.*4078C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 11/11 4078 chr21 36750168
chr21:36750441 G
G
 A
A
 15 a0001c0001t0011
a0001c0001t0014
a0001c0001t0034
others(12): Show 
a0001c0001t0011
a0001c0001t0014
a0001c0001t0034
a0001c0001t0035
a0001c0001t0055
a0001c0001t0061
a0001c0001t0077
a0001c0001t0082
a0001c0001t0083
a0001c0001t0089
a0001c0001t0090
a0001c0001t0101
a0001c0001t0102
a0001c0010t0011
a0008c0012t0035
 22 HG00673.hp2
HG00738.hp1
HG00738.hp2
others(19): Show 
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01071.hp1
HG01081.hp2
HG01099.hp1
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG01981.hp1
HG02135.hp1
HG03492.hp2
HG03704.hp2
HG04115.hp1
HG04204.hp2
NA18939.hp2
NA18940.hp1
NA18947.hp1
NA18970.hp1
NA18975.hp2
NA18977.hp1
NA19074.hp2
 3_prime_UTR_variant MODIFIER c.*3805C>T
c.*3805C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 11/11 3805 chr21 36750441
chr21:36750736 C
C
 T
T
 1 a0001c0001t0071
a0001c0001t0071
 1 NA19240.hp2
NA19240.hp2
 3_prime_UTR_variant MODIFIER c.*3510G>A
c.*3510G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 11/11 3510 chr21 36750736
chr21:36750798 T
T
 A
A
 1 a0001c0001t0091
a0001c0001t0091
 1 HG02683.hp1
HG02683.hp1
 3_prime_UTR_variant MODIFIER c.*3448A>T
c.*3448A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 11/11 3448 chr21 36750798
chr21:36750993 G
G
 A
A
 1 a0001c0001t0084
a0001c0001t0084
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*3253C>T
c.*3253C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 11/11 3253 chr21 36750993
chr21:36750999 T
T
 C
C
 1 a0001c0001t0085
a0001c0001t0085
 1 HG06807.hp2
HG06807.hp2
 3_prime_UTR_variant MODIFIER c.*3247A>G
c.*3247A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 11/11 3247 chr21 36750999
chr21:36751019 C
C
 CA
CA
 7 a0001c0001t0009
a0001c0001t0020
a0001c0001t0051
others(4): Show 
a0001c0001t0009
a0001c0001t0020
a0001c0001t0051
a0001c0001t0074
a0001c0001t0086
a0001c0015t0052
a0002c0002t0062
 13 HG00280.hp2
HG00735.hp2
HG01255.hp1
others(10): Show 
HG00280.hp2
HG00735.hp2
HG01255.hp1
HG01256.hp2
HG01258.hp2
HG01361.hp2
HG02083.hp1
HG03130.hp1
HG03209.hp2
HG03710.hp2
NA18961.hp2
NA19004.hp1
NA19057.hp1
 3_prime_UTR_variant MODIFIER c.*3226dupT
c.*3226dupT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 11/11 3226 chr21 36751019
chr21:36751103 A
A
 AAT
AAT
 54 a0001c0001t0004
a0001c0001t0007
a0001c0001t0008
others(51): Show 
a0001c0001t0004
a0001c0001t0007
a0001c0001t0008
a0001c0001t0009
a0001c0001t0012
a0001c0001t0013
a0001c0001t0016
a0001c0001t0018
a0001c0001t0019
a0001c0001t0020
a0001c0001t0024
a0001c0001t0026
a0001c0001t0031
a0001c0001t0032
a0001c0001t0033
a0001c0001t0034
a0001c0001t0035
a0001c0001t0039
a0001c0001t0047
a0001c0001t0051
a0001c0001t0071
a0001c0001t0073
a0001c0001t0074
a0001c0001t0076
a0001c0001t0080
a0001c0001t0081
a0001c0001t0082
a0001c0001t0083
a0001c0001t0084
a0001c0001t0085
a0001c0001t0086
a0001c0001t0093
a0001c0001t0104
a0001c0001t0105
a0001c0001t0106
a0001c0003t0007
a0001c0003t0012
a0001c0003t0050
a0001c0004t0004
a0001c0004t0017
a0001c0004t0072
a0001c0006t0023
a0001c0007t0007
a0001c0007t0012
a0001c0008t0008
a0001c0015t0052
a0001c0018t0004
a0002c0002t0013
a0002c0002t0018
a0002c0002t0025
a0005c0011t0033
a0007c0014t0070
a0008c0012t0035
a0009c0009t0012
 95 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(92): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01175.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01361.hp2
HG01496.hp1
HG01515.hp1
HG01884.hp2
HG01891.hp2
HG01952.hp2
HG01981.hp1
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02083.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02486.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03927.hp1
HG04115.hp1
HG04204.hp1
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18939.hp1
NA18940.hp1
NA18941.hp2
NA18945.hp2
NA18961.hp2
NA18979.hp2
NA19004.hp1
NA19030.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19074.hp2
NA19084.hp2
NA19240.hp1
NA19240.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*3141_*3142dupAT
c.*3141_*3142dupAT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 11/11 3142 chr21 36751103
chr21:36751300 C
C
 T
T
 1 a0003c0005t0092
a0003c0005t0092
 1 HG01175.hp2
HG01175.hp2
 3_prime_UTR_variant MODIFIER c.*2946G>A
c.*2946G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 11/11 2946 chr21 36751300
chr21:36751617 T
T
 G
G
 1 a0002c0002t0046
a0002c0002t0046
 1 HG03579.hp2
HG03579.hp2
 3_prime_UTR_variant MODIFIER c.*2629A>C
c.*2629A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 11/11 2629 chr21 36751617
chr21:36751624 C
C
 T
T
 66 a0001c0001t0003
a0001c0001t0004
a0001c0001t0005
others(63): Show 
a0001c0001t0003
a0001c0001t0004
a0001c0001t0005
a0001c0001t0007
a0001c0001t0008
a0001c0001t0009
a0001c0001t0012
a0001c0001t0013
a0001c0001t0016
a0001c0001t0018
a0001c0001t0019
a0001c0001t0020
a0001c0001t0024
a0001c0001t0026
a0001c0001t0031
a0001c0001t0032
a0001c0001t0033
a0001c0001t0034
a0001c0001t0035
a0001c0001t0036
a0001c0001t0039
a0001c0001t0047
a0001c0001t0051
a0001c0001t0053
a0001c0001t0055
a0001c0001t0073
a0001c0001t0074
a0001c0001t0075
a0001c0001t0076
a0001c0001t0080
a0001c0001t0081
a0001c0001t0082
a0001c0001t0083
a0001c0001t0084
a0001c0001t0085
a0001c0001t0086
a0001c0001t0087
a0001c0001t0088
a0001c0001t0089
a0001c0001t0090
a0001c0001t0091
a0001c0001t0105
a0001c0001t0106
a0001c0001t0110
a0001c0003t0003
a0001c0003t0007
a0001c0003t0012
a0001c0003t0050
a0001c0003t0054
a0001c0004t0004
a0001c0004t0017
a0001c0004t0072
a0001c0007t0007
a0001c0007t0012
a0001c0008t0008
a0001c0015t0052
a0001c0018t0004
a0002c0002t0003
a0002c0002t0013
a0002c0002t0018
a0002c0002t0025
a0002c0002t0027
a0003c0005t0027
a0005c0011t0033
a0008c0012t0035
a0009c0009t0012
 124 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(121): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp2
HG01071.hp1
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01175.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01361.hp2
HG01496.hp1
HG01515.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp2
HG01952.hp2
HG01981.hp1
HG02040.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02135.hp2
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02486.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18961.hp1
NA18961.hp2
NA18968.hp1
NA18970.hp2
NA18971.hp2
NA18979.hp2
NA18984.hp1
NA18989.hp2
NA19004.hp1
NA19004.hp2
NA19030.hp1
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19068.hp2
NA19074.hp2
NA19084.hp2
NA19240.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*2622G>A
c.*2622G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 11/11 2622 chr21 36751624
chr21:36751691 A
A
 G
G
 3 a0001c0001t0049
a0001c0001t0078
a0001c0001t0079
a0001c0001t0049
a0001c0001t0078
a0001c0001t0079
 3 NA18942.hp2
NA18971.hp1
NA18977.hp2
NA18942.hp2
NA18971.hp1
NA18977.hp2
 3_prime_UTR_variant MODIFIER c.*2555T>C
c.*2555T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 11/11 2555 chr21 36751691
chr21:36751969 T
T
 A
A
 1 a0001c0001t0103
a0001c0001t0103
 1 HG00438.hp2
HG00438.hp2
 3_prime_UTR_variant MODIFIER c.*2277A>T
c.*2277A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 11/11 2277 chr21 36751969
chr21:36752003 G
G
 A
A
 1 a0001c0001t0104
a0001c0001t0104
 1 HG02040.hp2
HG02040.hp2
 3_prime_UTR_variant MODIFIER c.*2243C>T
c.*2243C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 11/11 2243 chr21 36752003
chr21:36752210 G
G
 A
A
 1 a0001c0001t0105
a0001c0001t0105
 1 HG01884.hp2
HG01884.hp2
 3_prime_UTR_variant MODIFIER c.*2036C>T
c.*2036C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 11/11 2036 chr21 36752210
chr21:36752502 C
C
 T
T
 1 a0001c0001t0077
a0001c0001t0077
 1 HG01099.hp1
HG01099.hp1
 3_prime_UTR_variant MODIFIER c.*1744G>A
c.*1744G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 11/11 1744 chr21 36752502
chr21:36752521 T
T
 C
C
 1 a0001c0001t0071
a0001c0001t0071
 1 NA19240.hp2
NA19240.hp2
 3_prime_UTR_variant MODIFIER c.*1725A>G
c.*1725A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 11/11 1725 chr21 36752521
chr21:36752645 TTTTG
TTTTG
 T
T
 4 a0001c0001t0029
a0001c0001t0030
a0001c0001t0044
others(1): Show 
a0001c0001t0029
a0001c0001t0030
a0001c0001t0044
a0002c0002t0043
 6 HG00741.hp2
HG02486.hp2
HG02615.hp2
others(3): Show 
HG00741.hp2
HG02486.hp2
HG02615.hp2
HG02809.hp1
HG02818.hp2
HG03471.hp1
 3_prime_UTR_variant MODIFIER c.*1597_*1600delCAAA
c.*1597_*1600delCAAA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 11/11 1597 chr21 36752645
chr21:36752656 T
T
 A
A
 1 a0001c0001t0106
a0001c0001t0106
 1 HG02622.hp2
HG02622.hp2
 3_prime_UTR_variant MODIFIER c.*1590A>T
c.*1590A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 11/11 1590 chr21 36752656
chr21:36752762 T
T
 C
C
 11 a0001c0001t0024
a0001c0001t0026
a0001c0001t0031
others(8): Show 
a0001c0001t0024
a0001c0001t0026
a0001c0001t0031
a0001c0001t0032
a0001c0001t0047
a0001c0001t0073
a0001c0004t0017
a0001c0004t0042
a0001c0004t0072
a0002c0002t0025
a0002c0002t0048
 18 HG00735.hp1
HG01257.hp2
HG01258.hp1
others(15): Show 
HG00735.hp1
HG01257.hp2
HG01258.hp1
HG02145.hp2
HG02257.hp2
HG02280.hp2
HG02559.hp1
HG02647.hp2
HG02717.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG03098.hp2
HG03225.hp2
HG03471.hp2
HG03516.hp1
HG03516.hp2
HG06807.hp1
 3_prime_UTR_variant MODIFIER c.*1484A>G
c.*1484A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 11/11 1484 chr21 36752762
chr21:36752922 A
A
 G
G
 1 a0001c0001t0076
a0001c0001t0076
 1 NA19084.hp2
NA19084.hp2
 3_prime_UTR_variant MODIFIER c.*1324T>C
c.*1324T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 11/11 1324 chr21 36752922
chr21:36753040 G
G
 T
T
 9 a0001c0001t0022
a0001c0001t0029
a0001c0001t0030
others(6): Show 
a0001c0001t0022
a0001c0001t0029
a0001c0001t0030
a0001c0001t0044
a0001c0001t0069
a0001c0013t0022
a0002c0002t0043
a0002c0002t0045
a0002c0002t0046
 11 HG00741.hp2
HG01884.hp1
HG02486.hp2
others(8): Show 
HG00741.hp2
HG01884.hp1
HG02486.hp2
HG02615.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG03471.hp1
HG03579.hp2
NA18522.hp1
 3_prime_UTR_variant MODIFIER c.*1206C>A
c.*1206C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 11/11 1206 chr21 36753040
chr21:36753656 T
T
 C
C
 1 a0002c0002t0048
a0002c0002t0048
 1 HG03516.hp2
HG03516.hp2
 3_prime_UTR_variant MODIFIER c.*590A>G
c.*590A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 11/11 590 chr21 36753656
chr21:36753699 G
G
 A
A
 5 a0001c0001t0015
a0001c0001t0038
a0001c0001t0063
others(2): Show 
a0001c0001t0015
a0001c0001t0038
a0001c0001t0063
a0001c0001t0107
a0002c0002t0015
 8 HG02280.hp1
HG02572.hp2
HG02723.hp1
others(5): Show 
HG02280.hp1
HG02572.hp2
HG02723.hp1
HG02886.hp1
HG02922.hp2
HG02965.hp1
HG03453.hp1
HG03453.hp2
 3_prime_UTR_variant MODIFIER c.*547C>T
c.*547C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 11/11 547 chr21 36753699
chr21:36753725 G
G
 A
A
 22 a0001c0001t0022
a0001c0001t0024
a0001c0001t0026
others(19): Show 
a0001c0001t0022
a0001c0001t0024
a0001c0001t0026
a0001c0001t0029
a0001c0001t0030
a0001c0001t0031
a0001c0001t0032
a0001c0001t0044
a0001c0001t0047
a0001c0001t0069
a0001c0001t0071
a0001c0001t0073
a0001c0004t0017
a0001c0004t0072
a0001c0006t0023
a0001c0013t0022
a0002c0002t0025
a0002c0002t0043
a0002c0002t0045
a0002c0002t0046
a0002c0002t0048
a0007c0014t0070
 32 HG00741.hp1
HG00741.hp2
HG01257.hp2
others(29): Show 
HG00741.hp1
HG00741.hp2
HG01257.hp2
HG01258.hp1
HG01884.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02280.hp2
HG02486.hp2
HG02559.hp1
HG02615.hp2
HG02647.hp2
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG03098.hp2
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp2
HG06807.hp1
NA18522.hp1
NA19043.hp2
NA19240.hp2
 3_prime_UTR_variant MODIFIER c.*521C>T
c.*521C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 11/11 521 chr21 36753725
chr21:36753730 C
C
 G
G
 1 a0001c0001t0075
a0001c0001t0075
 1 HG02109.hp1
HG02109.hp1
 3_prime_UTR_variant MODIFIER c.*516G>C
c.*516G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 11/11 516 chr21 36753730
chr21:36753816 A
A
 G
G
 1 a0001c0001t0074
a0001c0001t0074
 1 HG00735.hp2
HG00735.hp2
 3_prime_UTR_variant MODIFIER c.*430T>C
c.*430T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 11/11 430 chr21 36753816
chr21:36753871 G
G
 C
C
 2 a0001c0017t0108
a0002c0002t0064
a0001c0017t0108
a0002c0002t0064
 2 HG03041.hp1
HG03195.hp1
HG03041.hp1
HG03195.hp1
 3_prime_UTR_variant MODIFIER c.*375C>G
c.*375C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 11/11 375 chr21 36753871
chr21:36753974 G
G
 A
A
 1 a0001c0001t0109
a0001c0001t0109
 1 HG02965.hp2
HG02965.hp2
 3_prime_UTR_variant MODIFIER c.*272C>T
c.*272C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 11/11 272 chr21 36753974
chr21:36753987 A
A
 G
G
 31 a0001c0001t0022
a0001c0001t0024
a0001c0001t0026
others(28): Show 
a0001c0001t0022
a0001c0001t0024
a0001c0001t0026
a0001c0001t0028
a0001c0001t0029
a0001c0001t0030
a0001c0001t0031
a0001c0001t0032
a0001c0001t0044
a0001c0001t0047
a0001c0001t0065
a0001c0001t0066
a0001c0001t0069
a0001c0001t0071
a0001c0001t0073
a0001c0003t0111
a0001c0004t0017
a0001c0004t0042
a0001c0004t0067
a0001c0004t0068
a0001c0004t0072
a0001c0006t0023
a0001c0013t0022
a0002c0002t0025
a0002c0002t0040
a0002c0002t0041
a0002c0002t0043
a0002c0002t0045
a0002c0002t0046
a0002c0002t0048
a0007c0014t0070
 42 HG00639.hp1
HG00735.hp1
HG00741.hp1
others(39): Show 
HG00639.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01106.hp2
HG01257.hp2
HG01258.hp1
HG01884.hp1
HG01891.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02280.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp2
HG06807.hp1
NA18522.hp1
NA19043.hp2
NA19240.hp2
 3_prime_UTR_variant MODIFIER c.*259T>C
c.*259T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 11/11 259 chr21 36753987
chr21:36754078 C
C
 A
A
 1 a0001c0001t0110
a0001c0001t0110
 1 NA18968.hp1
NA18968.hp1
 3_prime_UTR_variant MODIFIER c.*168G>T
c.*168G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 11/11 168 chr21 36754078
chr21:36754206 T
T
 C
C
 1 a0001c0001t0039
a0001c0001t0039
 2 NA18941.hp2
NA19057.hp2
NA18941.hp2
NA19057.hp2
 3_prime_UTR_variant MODIFIER c.*40A>G
c.*40A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 11/11 40 chr21 36754206
chr21:36754227 G
G
 A
A
 2 a0001c0001t0028
a0001c0003t0111
a0001c0001t0028
a0001c0003t0111
 3 HG02717.hp2
HG03139.hp1
HG03225.hp1
HG02717.hp2
HG03139.hp1
HG03225.hp1
 3_prime_UTR_variant MODIFIER c.*19C>T
c.*19C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 11/11 19 chr21 36754227
chr21:36966669 T
T
 C
C
 75 a0001c0001t0001
a0001c0001t0004
a0001c0001t0005
others(72): Show 
a0001c0001t0001
a0001c0001t0004
a0001c0001t0005
a0001c0001t0006
a0001c0001t0008
a0001c0001t0011
a0001c0001t0016
a0001c0001t0019
a0001c0001t0020
a0001c0001t0021
a0001c0001t0029
a0001c0001t0030
a0001c0001t0031
a0001c0001t0032
a0001c0001t0033
a0001c0001t0034
a0001c0001t0035
a0001c0001t0036
a0001c0001t0037
a0001c0001t0038
a0001c0001t0039
a0001c0001t0065
a0001c0001t0066
a0001c0001t0069
a0001c0001t0071
a0001c0001t0073
a0001c0001t0074
a0001c0001t0075
a0001c0001t0076
a0001c0001t0077
a0001c0001t0078
a0001c0001t0079
a0001c0001t0080
a0001c0001t0081
a0001c0001t0082
a0001c0001t0083
a0001c0001t0084
a0001c0001t0085
a0001c0001t0086
a0001c0001t0087
a0001c0001t0088
a0001c0001t0089
a0001c0001t0090
a0001c0001t0091
a0001c0001t0093
a0001c0001t0094
a0001c0001t0095
a0001c0001t0096
a0001c0001t0097
a0001c0001t0098
a0001c0001t0099
a0001c0001t0100
a0001c0001t0101
a0001c0001t0102
a0001c0001t0103
a0001c0001t0104
a0001c0001t0105
a0001c0001t0106
a0001c0001t0107
a0001c0001t0109
a0001c0001t0110
a0001c0003t0111
a0001c0004t0004
a0001c0004t0067
a0001c0004t0068
a0001c0004t0072
a0001c0008t0008
a0001c0010t0011
a0001c0017t0108
a0001c0018t0004
a0003c0005t0092
a0005c0011t0033
a0006c0016t0001
a0007c0014t0070
a0008c0012t0035
 150 HG00280.hp1
HG00438.hp1
HG00438.hp2
others(147): Show 
HG00280.hp1
HG00438.hp1
HG00438.hp2
HG00639.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02257.hp2
HG02300.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03704.hp1
HG03710.hp1
HG03927.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
homoSapiens_chm13v2.hp1
 5_prime_UTR_variant MODIFIER c.-31A>G
c.-31A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 1/11 31 chr21 36966669

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
chr21:36754436 G
G
 A
A
 1 a0001c0001t0085g0110
a0001c0001t0085g0110
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.2451-19C>T
c.2451-19C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 10/10 chr21 36754436
chr21:36754463 C
C
 T
T
 6 a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0031g0245
others(3): Show 
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0031g0245
a0001c0001t0073g0246
a0002c0002t0025g0146
a0002c0002t0025g0149
 6 HG01257.hp2
HG01258.hp1
HG02280.hp2
others(3): Show 
HG01257.hp2
HG01258.hp1
HG02280.hp2
HG02559.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.2451-46G>A
c.2451-46G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 10/10 chr21 36754463
chr21:36754713 C
C
 T
T
 1 a0001c0001t0001g0043
a0001c0001t0001g0043
 1 HG02300.hp1
HG02300.hp1
 intron_variant MODIFIER c.2451-296G>A
c.2451-296G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 10/10 chr21 36754713
chr21:36754723 C
C
 T
T
 3 a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0003t0111g0137
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0003t0111g0137
 3 HG02717.hp2
HG03139.hp1
HG03225.hp1
HG02717.hp2
HG03139.hp1
HG03225.hp1
 intron_variant MODIFIER c.2451-306G>A
c.2451-306G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 10/10 chr21 36754723
chr21:36754926 A
A
 G
G
 13 a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
others(10): Show 
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0019g0101
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0051g0168
a0001c0001t0074g0087
a0001c0001t0086g0044
a0001c0015t0052g0239
 13 HG00280.hp2
HG00735.hp2
HG01255.hp1
others(10): Show 
HG00280.hp2
HG00735.hp2
HG01255.hp1
HG01256.hp2
HG01258.hp2
HG01361.hp2
HG02083.hp1
HG03130.hp1
HG03710.hp2
NA18961.hp2
NA19004.hp1
NA19030.hp1
NA19057.hp1
 intron_variant MODIFIER c.2451-509T>C
c.2451-509T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 10/10 chr21 36754926
chr21:36755062 A
A
 C
C
 1 a0001c0001t0077g0039
a0001c0001t0077g0039
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.2451-645T>G
c.2451-645T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 10/10 chr21 36755062
chr21:36755064 A
A
 ACACACAC
others(3): Show 
ACACACACAAG
 1 a0001c0001t0056g0198
a0001c0001t0056g0198
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.2451-657_2451-648d
others(12): Show 
c.2451-657_2451-648dupCTTGTGTGTG
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 10/10 chr21 36755064
chr21:36755325 C
C
 T
T
 25 a0001c0001t0003g0173
a0001c0001t0004g0007
a0001c0001t0004g0009
others(22): Show 
a0001c0001t0003g0173
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0058
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0012g0234
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0084g0075
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0008t0008g0001
 25 HG00323.hp1
HG00323.hp2
HG00738.hp2
others(22): Show 
HG00323.hp1
HG00323.hp2
HG00738.hp2
HG01081.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01496.hp1
HG01891.hp2
HG02257.hp1
HG02602.hp2
HG02683.hp2
HG03239.hp1
HG03540.hp1
HG03831.hp2
HG03927.hp1
HG04115.hp1
HG04204.hp1
HG04228.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2451-908G>A
c.2451-908G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 10/10 chr21 36755325
chr21:36755396 TA
TA
 T
T
 20 a0001c0001t0022g0187
a0001c0001t0028g0192
a0001c0001t0030g0048
others(17): Show 
a0001c0001t0022g0187
a0001c0001t0028g0192
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0037g0254
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0003t0111g0137
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0013t0022g0177
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0007c0014t0070g0131
 20 HG00741.hp1
HG00741.hp2
HG01884.hp1
others(17): Show 
HG00741.hp1
HG00741.hp2
HG01884.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02615.hp2
HG02647.hp2
HG02717.hp2
HG02809.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG03139.hp1
HG03471.hp1
HG03579.hp2
NA18522.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.2451-980delT
c.2451-980delT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 10/10 chr21 36755396
chr21:36755397 A
A
 C
C
 1 a0001c0001t0014g0241
a0001c0001t0014g0241
 1 HG00673.hp2
HG00673.hp2
 intron_variant MODIFIER c.2451-980T>G
c.2451-980T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 10/10 chr21 36755397
chr21:36755398 A
A
 T
T
 1 a0001c0001t0014g0241
a0001c0001t0014g0241
 1 HG00673.hp2
HG00673.hp2
 intron_variant MODIFIER c.2451-981T>A
c.2451-981T>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 10/10 chr21 36755398
chr21:36755562 C
C
 T
T
 1 a0002c0002t0040g0242
a0002c0002t0040g0242
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.2450+980G>A
c.2450+980G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 10/10 chr21 36755562
chr21:36755573 C
C
 T
T
 2 a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0006t0023g0212
a0001c0006t0023g0222
 2 HG02145.hp1
NA19043.hp2
HG02145.hp1
NA19043.hp2
 intron_variant MODIFIER c.2450+969G>A
c.2450+969G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 10/10 chr21 36755573
chr21:36755705 G
G
 A
A
 1 a0001c0001t0091g0042
a0001c0001t0091g0042
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.2450+837C>T
c.2450+837C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 10/10 chr21 36755705
chr21:36755706 C
C
 T
T
 2 a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0039g0033
a0001c0001t0039g0126
 2 NA18941.hp2
NA19057.hp2
NA18941.hp2
NA19057.hp2
 intron_variant MODIFIER c.2450+836G>A
c.2450+836G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 10/10 chr21 36755706
chr21:36755717 C
C
 T
T
 2 a0001c0001t0018g0176
a0002c0002t0018g0153
a0001c0001t0018g0176
a0002c0002t0018g0153
 2 HG02886.hp2
NA18522.hp2
HG02886.hp2
NA18522.hp2
 intron_variant MODIFIER c.2450+825G>A
c.2450+825G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 10/10 chr21 36755717
chr21:36756164 C
C
 T
T
 7 a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0031g0057
others(4): Show 
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0073g0246
a0002c0002t0025g0146
a0002c0002t0025g0149
 7 HG01257.hp2
HG01258.hp1
HG02280.hp2
others(4): Show 
HG01257.hp2
HG01258.hp1
HG02280.hp2
HG02559.hp1
HG02717.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.2450+378G>A
c.2450+378G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 10/10 chr21 36756164
chr21:36756166 C
C
 T
T
 1 a0001c0004t0042g0209
a0001c0004t0042g0209
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.2450+376G>A
c.2450+376G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 10/10 chr21 36756166
chr21:36756171 G
G
 A
A
 4 a0001c0001t0022g0187
a0001c0001t0069g0255
a0001c0013t0022g0177
others(1): Show 
a0001c0001t0022g0187
a0001c0001t0069g0255
a0001c0013t0022g0177
a0002c0002t0040g0242
 4 HG01884.hp1
HG02559.hp2
HG02809.hp2
others(1): Show 
HG01884.hp1
HG02559.hp2
HG02809.hp2
HG02896.hp2
 intron_variant MODIFIER c.2450+371C>T
c.2450+371C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 10/10 chr21 36756171
chr21:36756177 A
A
 G
G
 6 a0001c0001t0015g0141
a0001c0001t0022g0187
a0001c0001t0028g0167
others(3): Show 
a0001c0001t0015g0141
a0001c0001t0022g0187
a0001c0001t0028g0167
a0001c0001t0069g0255
a0001c0013t0022g0177
a0002c0002t0040g0242
 6 HG01884.hp1
HG02559.hp2
HG02809.hp2
others(3): Show 
HG01884.hp1
HG02559.hp2
HG02809.hp2
HG02896.hp2
HG03225.hp1
HG03453.hp1
 intron_variant MODIFIER c.2450+365T>C
c.2450+365T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 10/10 chr21 36756177
chr21:36756188 C
C
 T
T
 2 a0001c0001t0018g0189
a0002c0002t0018g0153
a0001c0001t0018g0189
a0002c0002t0018g0153
 2 HG01952.hp2
NA18522.hp2
HG01952.hp2
NA18522.hp2
 intron_variant MODIFIER c.2450+354G>A
c.2450+354G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 10/10 chr21 36756188
chr21:36756214 A
A
 G
G
 1 a0001c0001t0071g0089
a0001c0001t0071g0089
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.2450+328T>C
c.2450+328T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 10/10 chr21 36756214
chr21:36756242 T
T
 A
A
 1 a0002c0002t0046g0150
a0002c0002t0046g0150
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.2450+300A>T
c.2450+300A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 10/10 chr21 36756242
chr21:36756249 T
T
 A
A
 2 a0001c0001t0018g0189
a0002c0002t0018g0153
a0001c0001t0018g0189
a0002c0002t0018g0153
 2 HG01952.hp2
NA18522.hp2
HG01952.hp2
NA18522.hp2
 intron_variant MODIFIER c.2450+293A>T
c.2450+293A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 10/10 chr21 36756249
chr21:36756253 ACG
ACG
 A
A
 28 a0001c0001t0002g0193
a0001c0001t0005g0135
a0001c0001t0013g0223
others(25): Show 
a0001c0001t0002g0193
a0001c0001t0005g0135
a0001c0001t0013g0223
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0037g0254
a0001c0001t0047g0188
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0085g0110
a0001c0001t0093g0133
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0013t0022g0177
a0001c0017t0108g0082
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0046g0150
a0002c0002t0064g0243
a0009c0009t0012g0196
 28 HG01099.hp2
HG01257.hp2
HG01258.hp1
others(25): Show 
HG01099.hp2
HG01257.hp2
HG01258.hp1
HG01891.hp1
HG02109.hp2
HG02145.hp1
HG02280.hp2
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03516.hp1
HG03579.hp2
HG06807.hp1
HG06807.hp2
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.2450+287_2450+288d
others(4): Show 
c.2450+287_2450+288delCG
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 10/10 chr21 36756253
chr21:36756255 G
G
 A
A
 109 a0001c0001t0001g0010
a0001c0001t0001g0017
a0001c0001t0001g0024
others(106): Show 
a0001c0001t0001g0010
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0040
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0128
a0001c0001t0002g0172
a0001c0001t0002g0183
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0166
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0228
a0001c0001t0004g0009
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0005g0003
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0006g0012
a0001c0001t0006g0029
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0084
a0001c0001t0010g0213
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0247
a0001c0001t0020g0034
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0022g0187
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0044g0161
a0001c0001t0051g0168
a0001c0001t0056g0198
a0001c0001t0059g0180
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0075g0049
a0001c0001t0077g0039
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0091g0042
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0099g0124
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0054g0217
a0001c0003t0111g0137
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0072g0248
a0001c0010t0011g0020
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0048g0144
a0005c0011t0033g0139
a0006c0016t0001g0116
a0008c0012t0035g0069
 109 HG00323.hp1
HG00438.hp1
HG00639.hp1
others(106): Show 
HG00323.hp1
HG00438.hp1
HG00639.hp1
HG00735.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01168.hp2
HG01169.hp1
HG01243.hp1
HG01256.hp1
HG01257.hp1
HG01361.hp1
HG01433.hp2
HG01496.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG02040.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02145.hp2
HG02257.hp2
HG02280.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02683.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03516.hp2
HG03710.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp2
NA18975.hp2
NA18977.hp1
NA18984.hp2
NA18989.hp1
NA19004.hp2
NA19009.hp2
NA19030.hp2
NA19043.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19084.hp1
NA19088.hp1
NA19240.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2450+287C>T
c.2450+287C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 10/10 chr21 36756255
chr21:36756266 A
A
 G
G
 17 a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
others(14): Show 
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0022g0187
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0085g0110
a0001c0001t0107g0050
a0002c0002t0015g0142
a0002c0002t0041g0148
a0002c0002t0043g0152
 17 HG00639.hp1
HG00741.hp2
HG01106.hp2
others(14): Show 
HG00639.hp1
HG00741.hp2
HG01106.hp2
HG01884.hp1
HG02280.hp1
HG02572.hp2
HG02615.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG06807.hp2
 intron_variant MODIFIER c.2450+276T>C
c.2450+276T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 10/10 chr21 36756266
chr21:36756267 C
C
 T
T
 17 a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
others(14): Show 
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0022g0187
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0085g0110
a0001c0001t0107g0050
a0002c0002t0015g0142
a0002c0002t0041g0148
a0002c0002t0043g0152
 17 HG00639.hp1
HG00741.hp2
HG01106.hp2
others(14): Show 
HG00639.hp1
HG00741.hp2
HG01106.hp2
HG01884.hp1
HG02280.hp1
HG02572.hp2
HG02615.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG06807.hp2
 intron_variant MODIFIER c.2450+275G>A
c.2450+275G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 10/10 chr21 36756267
chr21:36756271 C
C
 T
T
 16 a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
others(13): Show 
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0085g0110
a0001c0001t0107g0050
a0002c0002t0015g0142
a0002c0002t0041g0148
a0002c0002t0043g0152
 16 HG00639.hp1
HG00741.hp2
HG01106.hp2
others(13): Show 
HG00639.hp1
HG00741.hp2
HG01106.hp2
HG02280.hp1
HG02572.hp2
HG02615.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG06807.hp2
 intron_variant MODIFIER c.2450+271G>A
c.2450+271G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 10/10 chr21 36756271
chr21:36756406 G
G
 A
A
 145 a0001c0001t0001g0006
a0001c0001t0001g0041
a0001c0001t0001g0072
others(142): Show 
a0001c0001t0001g0006
a0001c0001t0001g0041
a0001c0001t0001g0072
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0193
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0009
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0004
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0113
a0001c0001t0005g0135
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0007g0162
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0249
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0106
a0001c0001t0019g0061
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0069g0255
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0081g0016
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0099g0124
a0001c0001t0102g0063
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0054g0217
a0001c0003t0111g0137
a0001c0004t0072g0248
a0001c0007t0007g0200
a0001c0008t0008g0001
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0040g0242
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0007c0014t0070g0131
 145 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(142): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01071.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01891.hp2
HG01975.hp1
HG02027.hp2
HG02040.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02135.hp1
HG02145.hp2
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18945.hp2
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18959.hp1
NA18968.hp2
NA18970.hp2
NA18971.hp2
NA18984.hp1
NA18989.hp2
NA19004.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2450+136C>T
c.2450+136C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 10/10 chr21 36756406
chr21:36756407 T
T
 C
C
 1 a0001c0001t0019g0247
a0001c0001t0019g0247
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.2450+135A>G
c.2450+135A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 10/10 chr21 36756407
chr21:36756429 C
C
 T
T
 12 a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0010g0213
others(9): Show 
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0010g0213
a0001c0001t0018g0176
a0001c0001t0022g0187
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0093g0133
a0001c0013t0022g0177
a0002c0002t0043g0152
 12 HG00741.hp2
HG01099.hp2
HG01884.hp1
others(9): Show 
HG00741.hp2
HG01099.hp2
HG01884.hp1
HG02615.hp2
HG02723.hp2
HG02809.hp2
HG02886.hp2
HG02896.hp2
HG02976.hp1
HG03130.hp2
HG03471.hp1
NA19240.hp2
 intron_variant MODIFIER c.2450+113G>A
c.2450+113G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 10/10 chr21 36756429
chr21:36756450 C
C
 CA
CA
 16 a0001c0001t0001g0024
a0001c0001t0001g0066
a0001c0001t0002g0165
others(13): Show 
a0001c0001t0001g0024
a0001c0001t0001g0066
a0001c0001t0002g0165
a0001c0001t0004g0138
a0001c0001t0005g0094
a0001c0001t0006g0019
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0019g0247
a0001c0001t0021g0129
a0001c0001t0044g0161
a0001c0010t0011g0020
a0002c0002t0003g0156
a0003c0005t0058g0214
a0003c0005t0092g0134
a0007c0014t0070g0131
 16 HG00741.hp1
HG01175.hp1
HG01175.hp2
others(13): Show 
HG00741.hp1
HG01175.hp1
HG01175.hp2
HG01257.hp1
HG01978.hp1
HG02486.hp2
HG03540.hp2
NA18940.hp2
NA18944.hp1
NA18961.hp1
NA18967.hp1
NA18970.hp1
NA18984.hp2
NA18993.hp1
NA19009.hp1
NA19240.hp1
 intron_variant MODIFIER c.2450+91dupT
c.2450+91dupT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 10/10 chr21 36756450
chr21:36756450 CA
CA
 C
C
 35 a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0001g0062
others(32): Show 
a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0001g0062
a0001c0001t0003g0166
a0001c0001t0005g0056
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0213
a0001c0001t0018g0189
a0001c0001t0019g0101
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0037g0083
a0001c0001t0053g0186
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0090g0005
a0001c0013t0022g0177
a0001c0015t0052g0239
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0041g0148
 35 HG00639.hp1
HG00741.hp2
HG01106.hp2
others(32): Show 
HG00639.hp1
HG00741.hp2
HG01106.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01515.hp2
HG01884.hp1
HG01952.hp2
HG01975.hp2
HG02027.hp2
HG02083.hp1
HG02280.hp2
HG02559.hp1
HG02615.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02896.hp2
HG02976.hp1
HG03130.hp2
HG03225.hp1
HG03710.hp2
HG03927.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp2
NA18942.hp1
NA18948.hp1
NA18959.hp2
NA19004.hp1
NA19004.hp2
NA19030.hp1
NA19240.hp2
 intron_variant MODIFIER c.2450+91delT
c.2450+91delT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 10/10 chr21 36756450
chr21:36756450 CAAA
CAAA
 C
C
 10 a0001c0001t0001g0072
a0001c0001t0007g0194
a0001c0001t0019g0061
others(7): Show 
a0001c0001t0001g0072
a0001c0001t0007g0194
a0001c0001t0019g0061
a0001c0001t0032g0111
a0001c0001t0037g0254
a0001c0001t0051g0168
a0001c0001t0075g0049
a0001c0001t0082g0112
a0001c0003t0012g0205
a0001c0004t0042g0209
 10 HG00735.hp1
HG01106.hp1
HG01109.hp1
others(7): Show 
HG00735.hp1
HG01106.hp1
HG01109.hp1
HG01123.hp2
HG01981.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp2
HG03130.hp1
HG03831.hp2
 intron_variant MODIFIER c.2450+89_2450+91del
others(3): Show 
c.2450+89_2450+91delTTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 10/10 chr21 36756450
chr21:36756450 CAAAA
CAAAA
 C
C
 85 a0001c0001t0001g0006
a0001c0001t0001g0041
a0001c0001t0001g0071
others(82): Show 
a0001c0001t0001g0006
a0001c0001t0001g0041
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0238
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0230
a0001c0001t0004g0007
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0005g0004
a0001c0001t0005g0052
a0001c0001t0005g0113
a0001c0001t0005g0135
a0001c0001t0006g0085
a0001c0001t0006g0109
a0001c0001t0007g0162
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0012g0234
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0016g0047
a0001c0001t0016g0106
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0028g0192
a0001c0001t0032g0081
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0036g0140
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0056g0198
a0001c0001t0061g0163
a0001c0001t0065g0252
a0001c0001t0074g0087
a0001c0001t0076g0090
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0085g0110
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0091g0042
a0001c0001t0094g0031
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0008t0008g0001
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0040g0242
a0002c0002t0045g0151
a0002c0002t0062g0145
a0005c0011t0033g0139
a0009c0009t0012g0196
 85 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(82): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00735.hp2
HG00738.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01975.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02129.hp1
HG02145.hp1
HG02257.hp2
HG02486.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp2
HG02818.hp1
HG02896.hp1
HG02897.hp2
HG02976.hp2
HG03041.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03471.hp2
HG03490.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp1
HG03927.hp1
HG04115.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18945.hp2
NA18951.hp2
NA18959.hp1
NA18970.hp2
NA18971.hp2
NA18989.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19084.hp2
NA19088.hp1
NA20129.hp2
 intron_variant MODIFIER c.2450+88_2450+91del
others(4): Show 
c.2450+88_2450+91delTTTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 10/10 chr21 36756450
chr21:36756450 CAAAAA
CAAAAA
 C
C
 8 a0001c0001t0001g0122
a0001c0001t0002g0174
a0001c0001t0007g0170
others(5): Show 
a0001c0001t0001g0122
a0001c0001t0002g0174
a0001c0001t0007g0170
a0001c0001t0007g0227
a0001c0001t0035g0097
a0001c0001t0097g0038
a0001c0003t0007g0221
a0002c0002t0013g0147
 8 HG01168.hp1
HG01346.hp1
HG01496.hp1
others(5): Show 
HG01168.hp1
HG01346.hp1
HG01496.hp1
HG02040.hp1
HG03139.hp2
NA18967.hp2
NA19074.hp2
NA20805.hp2
 intron_variant MODIFIER c.2450+87_2450+91del
others(5): Show 
c.2450+87_2450+91delTTTTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 10/10 chr21 36756450
chr21:36756470 A
A
 C
C
 1 a0001c0001t0019g0101
a0001c0001t0019g0101
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.2450+72T>G
c.2450+72T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 10/10 chr21 36756470
chr21:36756761 C
C
 T
T
 1 a0001c0001t0003g0184
a0001c0001t0003g0184
 1 NA19068.hp2
NA19068.hp2
 splice_region_variant&intron_variant LOW c.2237-6G>A
c.2237-6G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 9/10 chr21 36756761
chr21:36756821 A
A
 C
C
 150 a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
others(147): Show 
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0128
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0003g0228
a0001c0001t0003g0244
a0001c0001t0004g0009
a0001c0001t0004g0032
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0115
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0096
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0227
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0021g0129
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0036g0123
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0093g0133
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0003t0007g0210
a0001c0003t0050g0206
a0001c0003t0060g0203
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0017t0108g0082
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
 150 HG00280.hp1
HG00438.hp1
HG00438.hp2
others(147): Show 
HG00280.hp1
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01123.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01496.hp2
HG01515.hp1
HG01884.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02109.hp2
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG04115.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp2
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19084.hp1
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2237-66T>G
c.2237-66T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 9/10 chr21 36756821
chr21:36757174 C
C
 T
T
 110 a0001c0001t0001g0006
a0001c0001t0001g0041
a0001c0001t0001g0071
others(107): Show 
a0001c0001t0001g0006
a0001c0001t0001g0041
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0174
a0001c0001t0002g0238
a0001c0001t0003g0175
a0001c0001t0003g0226
a0001c0001t0003g0230
a0001c0001t0004g0007
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0113
a0001c0001t0005g0135
a0001c0001t0006g0085
a0001c0001t0006g0109
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0249
a0001c0001t0012g0234
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0016g0047
a0001c0001t0016g0106
a0001c0001t0019g0061
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0130
a0001c0001t0028g0192
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0061g0163
a0001c0001t0065g0252
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0094g0031
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0054g0217
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0008t0008g0001
a0001c0015t0052g0239
a0001c0018t0004g0060
a0002c0002t0013g0147
a0002c0002t0045g0151
a0002c0002t0062g0145
a0005c0011t0033g0139
a0009c0009t0012g0196
 110 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(107): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02486.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp2
HG02818.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18945.hp2
NA18950.hp1
NA18951.hp2
NA18961.hp2
NA18967.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp1
NA18984.hp1
NA19004.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19074.hp2
NA19084.hp2
NA19088.hp2
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.2237-419G>A
c.2237-419G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 9/10 chr21 36757174
chr21:36757184 T
T
 C
C
 110 a0001c0001t0001g0006
a0001c0001t0001g0041
a0001c0001t0001g0071
others(107): Show 
a0001c0001t0001g0006
a0001c0001t0001g0041
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0174
a0001c0001t0002g0238
a0001c0001t0003g0175
a0001c0001t0003g0226
a0001c0001t0003g0230
a0001c0001t0004g0007
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0113
a0001c0001t0005g0135
a0001c0001t0006g0085
a0001c0001t0006g0109
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0249
a0001c0001t0012g0234
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0016g0047
a0001c0001t0016g0106
a0001c0001t0019g0061
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0130
a0001c0001t0028g0192
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0061g0163
a0001c0001t0065g0252
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0094g0031
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0054g0217
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0008t0008g0001
a0001c0015t0052g0239
a0001c0018t0004g0060
a0002c0002t0013g0147
a0002c0002t0045g0151
a0002c0002t0062g0145
a0005c0011t0033g0139
a0009c0009t0012g0196
 110 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(107): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02486.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp2
HG02818.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18945.hp2
NA18950.hp1
NA18951.hp2
NA18961.hp2
NA18967.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp1
NA18984.hp1
NA19004.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19074.hp2
NA19084.hp2
NA19088.hp2
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.2237-429A>G
c.2237-429A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 9/10 chr21 36757184
chr21:36757204 G
G
 A
A
 1 a0001c0001t0037g0083
a0001c0001t0037g0083
 1 HG01515.hp2
HG01515.hp2
 intron_variant MODIFIER c.2237-449C>T
c.2237-449C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 9/10 chr21 36757204
chr21:36757347 T
T
 C
C
 1 a0001c0001t0008g0078
a0001c0001t0008g0078
 1 HG03927.hp1
HG03927.hp1
 intron_variant MODIFIER c.2237-592A>G
c.2237-592A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 9/10 chr21 36757347
chr21:36757471 G
G
 A
A
 110 a0001c0001t0001g0006
a0001c0001t0001g0041
a0001c0001t0001g0071
others(107): Show 
a0001c0001t0001g0006
a0001c0001t0001g0041
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0174
a0001c0001t0002g0238
a0001c0001t0003g0175
a0001c0001t0003g0226
a0001c0001t0003g0230
a0001c0001t0004g0007
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0113
a0001c0001t0005g0135
a0001c0001t0006g0085
a0001c0001t0006g0109
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0249
a0001c0001t0012g0234
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0016g0047
a0001c0001t0016g0106
a0001c0001t0019g0061
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0130
a0001c0001t0028g0192
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0061g0163
a0001c0001t0065g0252
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0094g0031
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0054g0217
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0008t0008g0001
a0001c0015t0052g0239
a0001c0018t0004g0060
a0002c0002t0013g0147
a0002c0002t0045g0151
a0002c0002t0062g0145
a0005c0011t0033g0139
a0009c0009t0012g0196
 110 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(107): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02486.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp2
HG02818.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18945.hp2
NA18950.hp1
NA18951.hp2
NA18961.hp2
NA18967.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp1
NA18984.hp1
NA19004.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19074.hp2
NA19084.hp2
NA19088.hp2
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.2237-716C>T
c.2237-716C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 9/10 chr21 36757471
chr21:36757605 C
C
 A
A
 14 a0001c0001t0001g0071
a0001c0001t0002g0158
a0001c0001t0002g0160
others(11): Show 
a0001c0001t0001g0071
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0003g0230
a0001c0001t0005g0021
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0021g0130
a0001c0001t0035g0097
a0001c0001t0061g0163
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0091g0042
a0001c0003t0003g0199
 14 HG01081.hp2
HG01361.hp1
HG01981.hp1
others(11): Show 
HG01081.hp2
HG01361.hp1
HG01981.hp1
HG02027.hp2
HG02602.hp2
HG02683.hp1
HG03239.hp1
HG03490.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG04228.hp2
NA18950.hp1
NA19074.hp2
 intron_variant MODIFIER c.2237-850G>T
c.2237-850G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 9/10 chr21 36757605
chr21:36757641 C
C
 A
A
 103 a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
others(100): Show 
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0128
a0001c0001t0002g0165
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0244
a0001c0001t0004g0032
a0001c0001t0005g0003
a0001c0001t0005g0086
a0001c0001t0005g0115
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0125
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0227
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0213
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0013g0231
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0016g0098
a0001c0001t0018g0176
a0001c0001t0019g0101
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0021g0129
a0001c0001t0022g0187
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0036g0123
a0001c0001t0037g0083
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0057g0225
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0090g0005
a0001c0001t0093g0133
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0110g0023
a0001c0003t0007g0210
a0001c0003t0050g0206
a0001c0003t0060g0203
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0027g0157
a0002c0002t0041g0148
a0004c0019t0112g0258
a0006c0016t0001g0116
a0008c0012t0035g0069
 103 HG00280.hp1
HG00438.hp1
HG00438.hp2
others(100): Show 
HG00280.hp1
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp2
HG00738.hp1
HG01070.hp2
HG01071.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01123.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02083.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02257.hp1
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02683.hp2
HG02723.hp2
HG02809.hp2
HG02886.hp2
HG02896.hp2
HG02976.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03490.hp1
HG03492.hp1
HG03492.hp2
HG03710.hp2
HG03927.hp2
HG04115.hp2
HG04204.hp2
NA18612.hp2
NA18939.hp2
NA18940.hp1
NA18942.hp2
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19068.hp1
NA19074.hp1
NA19084.hp1
NA19088.hp1
NA19240.hp2
NA20805.hp1
 intron_variant MODIFIER c.2237-886G>T
c.2237-886G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 9/10 chr21 36757641
chr21:36757729 C
C
 A
A
 77 a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
others(74): Show 
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0128
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0244
a0001c0001t0004g0032
a0001c0001t0005g0003
a0001c0001t0005g0086
a0001c0001t0005g0115
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0125
a0001c0001t0007g0227
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0013g0231
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0016g0098
a0001c0001t0021g0129
a0001c0001t0036g0123
a0001c0001t0049g0233
a0001c0001t0057g0225
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0110g0023
a0001c0003t0007g0210
a0001c0003t0050g0206
a0001c0003t0060g0203
a0001c0007t0012g0207
a0001c0010t0011g0020
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0027g0157
a0004c0019t0112g0258
a0006c0016t0001g0116
a0008c0012t0035g0069
 77 HG00280.hp1
HG00438.hp1
HG00438.hp2
others(74): Show 
HG00280.hp1
HG00438.hp1
HG00438.hp2
HG00639.hp2
HG00673.hp2
HG00738.hp1
HG01070.hp2
HG01071.hp2
HG01099.hp1
HG01123.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01255.hp2
HG01257.hp1
HG01346.hp2
HG01496.hp2
HG01515.hp1
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02257.hp1
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02683.hp2
HG03239.hp2
HG03490.hp1
HG03492.hp1
HG04115.hp2
NA18612.hp2
NA18939.hp2
NA18940.hp1
NA18942.hp2
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp1
NA19088.hp1
NA20805.hp1
 intron_variant MODIFIER c.2237-974G>T
c.2237-974G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 9/10 chr21 36757729
chr21:36757760 A
A
 G
G
 159 a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
others(156): Show 
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0128
a0001c0001t0002g0165
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0003g0228
a0001c0001t0003g0244
a0001c0001t0004g0009
a0001c0001t0004g0032
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0115
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0096
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0227
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0021g0129
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0033g0104
a0001c0001t0036g0123
a0001c0001t0037g0083
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0093g0133
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0003t0007g0210
a0001c0003t0050g0206
a0001c0003t0060g0203
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
 159 HG00280.hp1
HG00438.hp1
HG00438.hp2
others(156): Show 
HG00280.hp1
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01123.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02083.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03710.hp2
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19084.hp1
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2237-1005T>C
c.2237-1005T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 9/10 chr21 36757760
chr21:36757761 A
A
 C
C
 10 a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
others(7): Show 
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0009c0009t0012g0196
 10 HG00735.hp1
HG01891.hp1
HG02145.hp1
others(7): Show 
HG00735.hp1
HG01891.hp1
HG02145.hp1
HG02647.hp1
HG02647.hp2
HG02818.hp1
HG02896.hp1
HG02897.hp2
HG03195.hp2
NA19043.hp2
 intron_variant MODIFIER c.2237-1006T>G
c.2237-1006T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 9/10 chr21 36757761
chr21:36757850 G
G
 A
A
 2 a0001c0001t0005g0003
a0001c0001t0019g0061
a0001c0001t0005g0003
a0001c0001t0019g0061
 2 HG01109.hp1
NA18945.hp1
HG01109.hp1
NA18945.hp1
 intron_variant MODIFIER c.2237-1095C>T
c.2237-1095C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 9/10 chr21 36757850
chr21:36757850 G
G
 T
T
 2 a0001c0001t0001g0128
a0001c0001t0002g0172
a0001c0001t0001g0128
a0001c0001t0002g0172
 2 HG01070.hp2
HG01071.hp2
HG01070.hp2
HG01071.hp2
 intron_variant MODIFIER c.2237-1095C>A
c.2237-1095C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 9/10 chr21 36757850
chr21:36757851 T
T
 C
C
 2 a0001c0001t0001g0128
a0001c0001t0002g0172
a0001c0001t0001g0128
a0001c0001t0002g0172
 2 HG01070.hp2
HG01071.hp2
HG01070.hp2
HG01071.hp2
 intron_variant MODIFIER c.2237-1096A>G
c.2237-1096A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 9/10 chr21 36757851
chr21:36757853 C
C
 T
T
 1 a0001c0001t0103g0100
a0001c0001t0103g0100
 1 HG00438.hp2
HG00438.hp2
 intron_variant MODIFIER c.2237-1098G>A
c.2237-1098G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 9/10 chr21 36757853
chr21:36757879 C
C
 T
T
 1 a0001c0001t0037g0254
a0001c0001t0037g0254
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.2237-1124G>A
c.2237-1124G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 9/10 chr21 36757879
chr21:36757975 C
C
 T
T
 1 a0002c0002t0062g0145
a0002c0002t0062g0145
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.2237-1220G>A
c.2237-1220G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 9/10 chr21 36757975
chr21:36758128 C
C
 T
T
 1 a0001c0001t0056g0198
a0001c0001t0056g0198
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.2237-1373G>A
c.2237-1373G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 9/10 chr21 36758128
chr21:36758305 G
G
 A
A
 3 a0001c0001t0051g0168
a0001c0001t0066g0059
a0002c0002t0041g0148
a0001c0001t0051g0168
a0001c0001t0066g0059
a0002c0002t0041g0148
 3 HG00639.hp1
HG01106.hp2
HG03130.hp1
HG00639.hp1
HG01106.hp2
HG03130.hp1
 intron_variant MODIFIER c.2236+1422C>T
c.2236+1422C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 9/10 chr21 36758305
chr21:36758319 G
G
 A
A
 3 a0001c0001t0051g0168
a0001c0001t0066g0059
a0002c0002t0041g0148
a0001c0001t0051g0168
a0001c0001t0066g0059
a0002c0002t0041g0148
 3 HG00639.hp1
HG01106.hp2
HG03130.hp1
HG00639.hp1
HG01106.hp2
HG03130.hp1
 intron_variant MODIFIER c.2236+1408C>T
c.2236+1408C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 9/10 chr21 36758319
chr21:36758753 C
C
 T
T
 3 a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
 3 HG02647.hp2
HG02896.hp1
HG02897.hp2
HG02647.hp2
HG02896.hp1
HG02897.hp2
 intron_variant MODIFIER c.2236+974G>A
c.2236+974G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 9/10 chr21 36758753
chr21:36758784 C
C
 T
T
 1 a0001c0001t0030g0257
a0001c0001t0030g0257
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.2236+943G>A
c.2236+943G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 9/10 chr21 36758784
chr21:36758823 A
A
 T
T
 1 a0001c0001t0037g0254
a0001c0001t0037g0254
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.2236+904T>A
c.2236+904T>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 9/10 chr21 36758823
chr21:36758916 G
G
 A
A
 3 a0001c0001t0001g0027
a0001c0001t0001g0077
a0002c0002t0002g0143
a0001c0001t0001g0027
a0001c0001t0001g0077
a0002c0002t0002g0143
 3 NA18948.hp1
NA18959.hp1
NA19088.hp1
NA18948.hp1
NA18959.hp1
NA19088.hp1
 intron_variant MODIFIER c.2236+811C>T
c.2236+811C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 9/10 chr21 36758916
chr21:36758983 CA
CA
 C
C
 15 a0001c0001t0002g0165
a0001c0001t0006g0132
a0001c0001t0009g0201
others(12): Show 
a0001c0001t0002g0165
a0001c0001t0006g0132
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0016g0106
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0028g0192
a0001c0001t0037g0083
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0059g0180
a0001c0001t0086g0044
a0001c0001t0090g0005
a0001c0015t0052g0239
 15 HG01070.hp1
HG01256.hp2
HG01258.hp2
others(12): Show 
HG01070.hp1
HG01256.hp2
HG01258.hp2
HG01515.hp2
HG01978.hp1
HG02083.hp1
HG02976.hp1
HG03139.hp1
HG03492.hp2
HG03710.hp2
HG03927.hp2
HG04204.hp2
NA18945.hp2
NA18961.hp2
NA19004.hp1
 intron_variant MODIFIER c.2236+743delT
c.2236+743delT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 9/10 chr21 36758983
chr21:36759209 T
T
 C
C
 1 a0001c0001t0110g0023
a0001c0001t0110g0023
 1 NA18968.hp1
NA18968.hp1
 intron_variant MODIFIER c.2236+518A>G
c.2236+518A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 9/10 chr21 36759209
chr21:36759384 T
T
 C
C
 1 a0001c0003t0003g0199
a0001c0003t0003g0199
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.2236+343A>G
c.2236+343A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 9/10 chr21 36759384
chr21:36759424 C
C
 T
T
 4 a0001c0001t0022g0187
a0001c0001t0069g0255
a0001c0001t0093g0133
others(1): Show 
a0001c0001t0022g0187
a0001c0001t0069g0255
a0001c0001t0093g0133
a0001c0013t0022g0177
 4 HG01099.hp2
HG01884.hp1
HG02809.hp2
others(1): Show 
HG01099.hp2
HG01884.hp1
HG02809.hp2
HG02896.hp2
 intron_variant MODIFIER c.2236+303G>A
c.2236+303G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 9/10 chr21 36759424
chr21:36759481 T
T
 G
G
 1 a0001c0001t0065g0252
a0001c0001t0065g0252
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.2236+246A>C
c.2236+246A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 9/10 chr21 36759481
chr21:36759494 C
C
 T
T
 2 a0001c0001t0018g0189
a0002c0002t0018g0153
a0001c0001t0018g0189
a0002c0002t0018g0153
 2 HG01952.hp2
NA18522.hp2
HG01952.hp2
NA18522.hp2
 intron_variant MODIFIER c.2236+233G>A
c.2236+233G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 9/10 chr21 36759494
chr21:36759547 T
T
 C
C
 22 a0001c0001t0003g0184
a0001c0001t0003g0228
a0001c0001t0004g0009
others(19): Show 
a0001c0001t0003g0184
a0001c0001t0003g0228
a0001c0001t0004g0009
a0001c0001t0004g0138
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0006g0096
a0001c0001t0006g0127
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0016g0091
a0001c0001t0033g0104
a0001c0001t0059g0180
a0001c0001t0084g0075
a0001c0001t0089g0099
a0002c0002t0048g0144
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0007c0014t0070g0131
 22 HG00673.hp1
HG00741.hp1
HG01070.hp1
others(19): Show 
HG00673.hp1
HG00741.hp1
HG01070.hp1
HG01071.hp1
HG01175.hp1
HG01175.hp2
HG01256.hp1
HG02895.hp1
HG02897.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
NA18940.hp2
NA18942.hp1
NA18944.hp1
NA18950.hp2
NA18967.hp1
NA18993.hp2
NA19068.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2236+180A>G
c.2236+180A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 9/10 chr21 36759547
chr21:36759568 G
G
 A
A
 110 a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
others(107): Show 
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0128
a0001c0001t0002g0165
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0244
a0001c0001t0004g0032
a0001c0001t0005g0003
a0001c0001t0005g0086
a0001c0001t0005g0115
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0125
a0001c0001t0007g0227
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0013g0231
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0016g0098
a0001c0001t0018g0189
a0001c0001t0019g0101
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0021g0129
a0001c0001t0022g0187
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0036g0123
a0001c0001t0037g0083
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0057g0225
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0090g0005
a0001c0001t0093g0133
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0110g0023
a0001c0003t0007g0210
a0001c0003t0050g0206
a0001c0003t0060g0203
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0018g0153
a0002c0002t0027g0157
a0002c0002t0041g0148
a0004c0019t0112g0258
a0006c0016t0001g0116
a0008c0012t0035g0069
a0009c0009t0012g0196
 110 HG00280.hp1
HG00438.hp1
HG00438.hp2
others(107): Show 
HG00280.hp1
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp1
HG01070.hp2
HG01071.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01123.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02083.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02809.hp2
HG02818.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG03130.hp1
HG03139.hp1
HG03195.hp2
HG03225.hp1
HG03239.hp2
HG03490.hp1
HG03492.hp1
HG03492.hp2
HG03710.hp2
HG03927.hp2
HG04115.hp2
HG04204.hp2
NA18522.hp2
NA18612.hp2
NA18939.hp2
NA18940.hp1
NA18942.hp2
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp1
NA19088.hp1
NA20805.hp1
 intron_variant MODIFIER c.2236+159C>T
c.2236+159C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 9/10 chr21 36759568
chr21:36759871 C
C
 T
T
 87 a0001c0001t0001g0006
a0001c0001t0001g0041
a0001c0001t0001g0071
others(84): Show 
a0001c0001t0001g0006
a0001c0001t0001g0041
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0174
a0001c0001t0002g0238
a0001c0001t0003g0175
a0001c0001t0003g0226
a0001c0001t0003g0230
a0001c0001t0004g0007
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0113
a0001c0001t0005g0135
a0001c0001t0006g0085
a0001c0001t0006g0109
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0249
a0001c0001t0012g0234
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0016g0047
a0001c0001t0016g0106
a0001c0001t0019g0061
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0130
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0140
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0061g0163
a0001c0001t0065g0252
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0085g0110
a0001c0001t0091g0042
a0001c0001t0094g0031
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0054g0217
a0001c0003t0111g0137
a0001c0004t0072g0248
a0001c0007t0007g0200
a0001c0008t0008g0001
a0001c0018t0004g0060
a0002c0002t0013g0147
a0002c0002t0045g0151
a0002c0002t0062g0145
a0005c0011t0033g0139
 87 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(84): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00735.hp2
HG00738.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp2
HG01975.hp1
HG01981.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02145.hp2
HG02257.hp2
HG02486.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp2
HG03139.hp2
HG03209.hp2
HG03239.hp1
HG03471.hp2
HG03490.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG04115.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18945.hp2
NA18950.hp1
NA18951.hp2
NA18967.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp1
NA18984.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19074.hp2
NA19084.hp2
NA19088.hp2
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.2122-30G>A
c.2122-30G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 8/10 chr21 36759871
chr21:36759876 C
C
 T
T
 1 a0001c0001t0037g0254
a0001c0001t0037g0254
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.2122-35G>A
c.2122-35G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 8/10 chr21 36759876
chr21:36759948 G
G
 A
A
 3 a0001c0001t0051g0168
a0001c0001t0066g0059
a0002c0002t0041g0148
a0001c0001t0051g0168
a0001c0001t0066g0059
a0002c0002t0041g0148
 3 HG00639.hp1
HG01106.hp2
HG03130.hp1
HG00639.hp1
HG01106.hp2
HG03130.hp1
 intron_variant MODIFIER c.2122-107C>T
c.2122-107C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 8/10 chr21 36759948
chr21:36760160 C
C
 T
T
 1 a0001c0001t0001g0122
a0001c0001t0001g0122
 1 HG01346.hp1
HG01346.hp1
 intron_variant MODIFIER c.2122-319G>A
c.2122-319G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 8/10 chr21 36760160
chr21:36760170 A
A
 T
T
 1 a0001c0001t0011g0118
a0001c0001t0011g0118
 1 NA18947.hp1
NA18947.hp1
 intron_variant MODIFIER c.2122-329T>A
c.2122-329T>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 8/10 chr21 36760170
chr21:36760171 T
T
 C
C
 10 a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
others(7): Show 
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0009c0009t0012g0196
 10 HG00735.hp1
HG01891.hp1
HG02145.hp1
others(7): Show 
HG00735.hp1
HG01891.hp1
HG02145.hp1
HG02647.hp1
HG02647.hp2
HG02818.hp1
HG02896.hp1
HG02897.hp2
HG03195.hp2
NA19043.hp2
 intron_variant MODIFIER c.2122-330A>G
c.2122-330A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 8/10 chr21 36760171
chr21:36760235 C
C
 T
T
 1 a0001c0001t0098g0035
a0001c0001t0098g0035
 1 NA18975.hp1
NA18975.hp1
 intron_variant MODIFIER c.2122-394G>A
c.2122-394G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 8/10 chr21 36760235
chr21:36760529 G
G
 A
A
 3 a0001c0001t0004g0007
a0001c0001t0004g0014
a0001c0001t0012g0234
a0001c0001t0004g0007
a0001c0001t0004g0014
a0001c0001t0012g0234
 3 HG01081.hp1
HG01243.hp2
HG04204.hp1
HG01081.hp1
HG01243.hp2
HG04204.hp1
 intron_variant MODIFIER c.2122-688C>T
c.2122-688C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 8/10 chr21 36760529
chr21:36760535 G
G
 A
A
 1 a0001c0018t0004g0060
a0001c0018t0004g0060
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.2122-694C>T
c.2122-694C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 8/10 chr21 36760535
chr21:36760609 C
C
 CA
CA
 22 a0001c0001t0004g0058
a0001c0001t0009g0178
a0001c0001t0009g0235
others(19): Show 
a0001c0001t0004g0058
a0001c0001t0009g0178
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0011g0022
a0001c0001t0018g0189
a0001c0001t0019g0101
a0001c0001t0032g0111
a0001c0001t0074g0087
a0001c0001t0085g0110
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0002c0002t0018g0153
a0006c0016t0001g0116
a0009c0009t0012g0196
 22 HG00280.hp2
HG00735.hp1
HG00735.hp2
others(19): Show 
HG00280.hp2
HG00735.hp1
HG00735.hp2
HG01192.hp2
HG01255.hp1
HG01361.hp2
HG01891.hp1
HG01952.hp2
HG02145.hp1
HG02145.hp2
HG02647.hp1
HG02647.hp2
HG02818.hp1
HG02896.hp1
HG02897.hp2
HG03195.hp2
HG06807.hp2
NA18522.hp2
NA18977.hp1
NA18989.hp1
NA19030.hp1
NA19043.hp2
 intron_variant MODIFIER c.2122-769dupT
c.2122-769dupT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 8/10 chr21 36760609
chr21:36760673 G
G
 A
A
 1 a0001c0001t0104g0114
a0001c0001t0104g0114
 1 HG02040.hp2
HG02040.hp2
 intron_variant MODIFIER c.2122-832C>T
c.2122-832C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 8/10 chr21 36760673
chr21:36760801 A
A
 G
G
 3 a0001c0001t0001g0027
a0001c0001t0001g0077
a0002c0002t0002g0143
a0001c0001t0001g0027
a0001c0001t0001g0077
a0002c0002t0002g0143
 3 NA18948.hp1
NA18959.hp1
NA19088.hp1
NA18948.hp1
NA18959.hp1
NA19088.hp1
 intron_variant MODIFIER c.2122-960T>C
c.2122-960T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 8/10 chr21 36760801
chr21:36760803 C
C
 G
G
 2 a0001c0001t0028g0167
a0001c0001t0037g0254
a0001c0001t0028g0167
a0001c0001t0037g0254
 2 HG02109.hp2
HG03225.hp1
HG02109.hp2
HG03225.hp1
 intron_variant MODIFIER c.2122-962G>C
c.2122-962G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 8/10 chr21 36760803
chr21:36760892 T
T
 G
G
 4 a0001c0001t0022g0187
a0001c0001t0069g0255
a0001c0001t0093g0133
others(1): Show 
a0001c0001t0022g0187
a0001c0001t0069g0255
a0001c0001t0093g0133
a0001c0013t0022g0177
 4 HG01099.hp2
HG01884.hp1
HG02809.hp2
others(1): Show 
HG01099.hp2
HG01884.hp1
HG02809.hp2
HG02896.hp2
 intron_variant MODIFIER c.2122-1051A>C
c.2122-1051A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 8/10 chr21 36760892
chr21:36760907 C
C
 T
T
 23 a0001c0001t0002g0193
a0001c0001t0013g0223
a0001c0001t0015g0141
others(20): Show 
a0001c0001t0002g0193
a0001c0001t0013g0223
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0019g0247
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0107g0050
a0001c0017t0108g0082
a0002c0002t0015g0142
a0002c0002t0040g0242
a0002c0002t0043g0152
a0002c0002t0046g0150
a0002c0002t0064g0243
 23 HG00741.hp2
HG02280.hp1
HG02486.hp2
others(20): Show 
HG00741.hp2
HG02280.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG03041.hp1
HG03098.hp1
HG03195.hp1
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp2
NA19240.hp1
 intron_variant MODIFIER c.2122-1066G>A
c.2122-1066G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 8/10 chr21 36760907
chr21:36761051 C
C
 T
T
 2 a0001c0001t0044g0161
a0002c0002t0046g0150
a0001c0001t0044g0161
a0002c0002t0046g0150
 2 HG02486.hp2
HG03579.hp2
HG02486.hp2
HG03579.hp2
 intron_variant MODIFIER c.2122-1210G>A
c.2122-1210G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 8/10 chr21 36761051
chr21:36761064 C
C
 T
T
 2 a0001c0001t0001g0071
a0001c0001t0083g0013
a0001c0001t0001g0071
a0001c0001t0083g0013
 2 HG01081.hp2
HG01361.hp1
HG01081.hp2
HG01361.hp1
 intron_variant MODIFIER c.2122-1223G>A
c.2122-1223G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 8/10 chr21 36761064
chr21:36761079 G
G
 A
A
 1 a0001c0001t0037g0254
a0001c0001t0037g0254
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.2122-1238C>T
c.2122-1238C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 8/10 chr21 36761079
chr21:36761133 C
C
 A
A
 1 a0009c0009t0012g0196
a0009c0009t0012g0196
 1 HG02647.hp1
HG02647.hp1
 intron_variant MODIFIER c.2122-1292G>T
c.2122-1292G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 8/10 chr21 36761133
chr21:36761271 T
T
 G
G
 1 a0001c0001t0001g0122
a0001c0001t0001g0122
 1 HG01346.hp1
HG01346.hp1
 intron_variant MODIFIER c.2122-1430A>C
c.2122-1430A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 8/10 chr21 36761271
chr21:36761386 C
C
 T
T
 10 a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
others(7): Show 
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0063g0208
a0001c0001t0107g0050
a0002c0002t0015g0142
 10 HG02280.hp1
HG02572.hp2
HG02723.hp1
others(7): Show 
HG02280.hp1
HG02572.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp1
HG03453.hp1
HG03453.hp2
 intron_variant MODIFIER c.2122-1545G>A
c.2122-1545G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 8/10 chr21 36761386
chr21:36761467 G
G
 A
A
 1 a0001c0001t0002g0193
a0001c0001t0002g0193
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.2122-1626C>T
c.2122-1626C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 8/10 chr21 36761467
chr21:36761468 C
C
 T
T
 1 a0001c0001t0005g0056
a0001c0001t0005g0056
 1 NA18942.hp1
NA18942.hp1
 intron_variant MODIFIER c.2122-1627G>A
c.2122-1627G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 8/10 chr21 36761468
chr21:36761646 G
G
 T
T
 1 a0002c0002t0062g0145
a0002c0002t0062g0145
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.2122-1805C>A
c.2122-1805C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 8/10 chr21 36761646
chr21:36761812 C
C
 T
T
 97 a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
others(94): Show 
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0128
a0001c0001t0002g0165
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0244
a0001c0001t0004g0032
a0001c0001t0005g0003
a0001c0001t0005g0086
a0001c0001t0005g0115
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0125
a0001c0001t0007g0227
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0013g0231
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0016g0098
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0021g0129
a0001c0001t0022g0187
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0036g0123
a0001c0001t0037g0083
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0057g0225
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0090g0005
a0001c0001t0093g0133
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0110g0023
a0001c0003t0007g0210
a0001c0003t0050g0206
a0001c0003t0060g0203
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0027g0157
a0002c0002t0041g0148
a0004c0019t0112g0258
a0006c0016t0001g0116
a0008c0012t0035g0069
 97 HG00280.hp1
HG00438.hp1
HG00438.hp2
others(94): Show 
HG00280.hp1
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp2
HG00738.hp1
HG01070.hp2
HG01071.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01123.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02083.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02257.hp1
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02683.hp2
HG02809.hp2
HG02896.hp2
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03490.hp1
HG03492.hp1
HG03492.hp2
HG03710.hp2
HG03927.hp2
HG04115.hp2
HG04204.hp2
NA18612.hp2
NA18939.hp2
NA18940.hp1
NA18942.hp2
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp1
NA19088.hp1
NA20805.hp1
 intron_variant MODIFIER c.2122-1971G>A
c.2122-1971G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 8/10 chr21 36761812
chr21:36761847 C
C
 T
T
 1 a0005c0011t0033g0139
a0005c0011t0033g0139
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.2122-2006G>A
c.2122-2006G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 8/10 chr21 36761847
chr21:36761889 C
C
 T
T
 1 a0001c0001t0085g0110
a0001c0001t0085g0110
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.2122-2048G>A
c.2122-2048G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 8/10 chr21 36761889
chr21:36761890 G
G
 A
A
 9 a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
others(6): Show 
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0009c0009t0012g0196
 9 HG01891.hp1
HG02145.hp1
HG02647.hp1
others(6): Show 
HG01891.hp1
HG02145.hp1
HG02647.hp1
HG02647.hp2
HG02818.hp1
HG02896.hp1
HG02897.hp2
HG03195.hp2
NA19043.hp2
 intron_variant MODIFIER c.2122-2049C>T
c.2122-2049C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 8/10 chr21 36761890
chr21:36761965 C
C
 A
A
 172 a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
others(169): Show 
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0128
a0001c0001t0002g0165
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0003g0228
a0001c0001t0003g0244
a0001c0001t0004g0009
a0001c0001t0004g0032
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0115
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0096
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0227
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0021g0129
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0033g0104
a0001c0001t0036g0123
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0093g0133
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0003t0007g0210
a0001c0003t0050g0206
a0001c0003t0060g0203
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 172 HG00280.hp1
HG00438.hp1
HG00438.hp2
others(169): Show 
HG00280.hp1
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01123.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.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.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03710.hp2
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp2
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19084.hp1
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2122-2124G>T
c.2122-2124G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 8/10 chr21 36761965
chr21:36762112 A
A
 C
C
 77 a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
others(74): Show 
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0128
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0244
a0001c0001t0004g0032
a0001c0001t0005g0003
a0001c0001t0005g0086
a0001c0001t0005g0115
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0125
a0001c0001t0007g0227
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0013g0231
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0016g0098
a0001c0001t0021g0129
a0001c0001t0036g0123
a0001c0001t0049g0233
a0001c0001t0057g0225
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0110g0023
a0001c0003t0007g0210
a0001c0003t0050g0206
a0001c0003t0060g0203
a0001c0007t0012g0207
a0001c0010t0011g0020
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0027g0157
a0004c0019t0112g0258
a0006c0016t0001g0116
a0008c0012t0035g0069
 77 HG00280.hp1
HG00438.hp1
HG00438.hp2
others(74): Show 
HG00280.hp1
HG00438.hp1
HG00438.hp2
HG00639.hp2
HG00673.hp2
HG00738.hp1
HG01070.hp2
HG01071.hp2
HG01099.hp1
HG01123.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01255.hp2
HG01257.hp1
HG01346.hp2
HG01496.hp2
HG01515.hp1
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02257.hp1
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02683.hp2
HG03239.hp2
HG03490.hp1
HG03492.hp1
HG04115.hp2
NA18612.hp2
NA18939.hp2
NA18940.hp1
NA18942.hp2
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp1
NA19088.hp1
NA20805.hp1
 intron_variant MODIFIER c.2122-2271T>G
c.2122-2271T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 8/10 chr21 36762112
chr21:36762210 T
T
 G
G
 96 a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
others(93): Show 
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0128
a0001c0001t0002g0165
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0244
a0001c0001t0004g0032
a0001c0001t0005g0003
a0001c0001t0005g0086
a0001c0001t0005g0115
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0125
a0001c0001t0007g0227
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0013g0231
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0016g0098
a0001c0001t0018g0189
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0021g0129
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0036g0123
a0001c0001t0037g0083
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0057g0225
a0001c0001t0066g0059
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0090g0005
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0110g0023
a0001c0003t0007g0210
a0001c0003t0050g0206
a0001c0003t0060g0203
a0001c0004t0072g0248
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0015t0052g0239
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0018g0153
a0002c0002t0027g0157
a0002c0002t0041g0148
a0004c0019t0112g0258
a0006c0016t0001g0116
a0008c0012t0035g0069
 96 HG00280.hp1
HG00438.hp1
HG00438.hp2
others(93): Show 
HG00280.hp1
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp2
HG00738.hp1
HG01070.hp2
HG01071.hp2
HG01099.hp1
HG01106.hp2
HG01123.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02083.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02257.hp1
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02683.hp2
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03239.hp2
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03492.hp2
HG03710.hp2
HG03927.hp2
HG04115.hp2
HG04204.hp2
NA18522.hp2
NA18612.hp2
NA18939.hp2
NA18940.hp1
NA18942.hp2
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp1
NA19088.hp1
NA20805.hp1
 intron_variant MODIFIER c.2122-2369A>C
c.2122-2369A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 8/10 chr21 36762210
chr21:36762391 G
G
 A
A
 233 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(230): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0009
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0221
a0001c0003t0050g0206
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 233 HG00280.hp1
HG00280.hp2
HG00438.hp1
others(230): Show 
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2122-2550C>T
c.2122-2550C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 8/10 chr21 36762391
chr21:36762545 G
G
 C
C
 60 a0001c0001t0002g0193
a0001c0001t0003g0184
a0001c0001t0003g0228
others(57): Show 
a0001c0001t0002g0193
a0001c0001t0003g0184
a0001c0001t0003g0228
a0001c0001t0004g0009
a0001c0001t0004g0138
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0006g0096
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0013g0223
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0091
a0001c0001t0018g0176
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0033g0104
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0059g0180
a0001c0001t0063g0208
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0089g0099
a0001c0001t0107g0050
a0001c0017t0108g0082
a0002c0002t0015g0142
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0043g0152
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0007c0014t0070g0131
 60 HG00673.hp1
HG00741.hp1
HG00741.hp2
others(57): Show 
HG00673.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01071.hp1
HG01175.hp1
HG01175.hp2
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG06807.hp1
HG06807.hp2
NA18940.hp2
NA18942.hp1
NA18944.hp1
NA18950.hp2
NA18967.hp1
NA18993.hp2
NA19030.hp1
NA19068.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2121+2467C>G
c.2121+2467C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 8/10 chr21 36762545
chr21:36762820 C
C
 T
T
 11 a0001c0001t0002g0193
a0001c0001t0013g0223
a0001c0001t0019g0101
others(8): Show 
a0001c0001t0002g0193
a0001c0001t0013g0223
a0001c0001t0019g0101
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0044g0161
a0001c0001t0056g0198
a0001c0017t0108g0082
a0002c0002t0043g0152
a0002c0002t0046g0150
a0002c0002t0064g0243
 11 HG00741.hp2
HG02486.hp2
HG02572.hp1
others(8): Show 
HG00741.hp2
HG02486.hp2
HG02572.hp1
HG02615.hp2
HG03041.hp1
HG03098.hp1
HG03195.hp1
HG03209.hp1
HG03471.hp1
HG03579.hp2
NA19030.hp1
 intron_variant MODIFIER c.2121+2192G>A
c.2121+2192G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 8/10 chr21 36762820
chr21:36762828 G
G
 A
A
 1 a0001c0001t0019g0101
a0001c0001t0019g0101
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.2121+2184C>T
c.2121+2184C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 8/10 chr21 36762828
chr21:36763029 T
T
 C
C
 7 a0001c0001t0002g0193
a0001c0001t0030g0048
a0001c0001t0030g0257
others(4): Show 
a0001c0001t0002g0193
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0056g0198
a0001c0017t0108g0082
a0002c0002t0043g0152
a0002c0002t0064g0243
 7 HG00741.hp2
HG02572.hp1
HG02615.hp2
others(4): Show 
HG00741.hp2
HG02572.hp1
HG02615.hp2
HG03041.hp1
HG03195.hp1
HG03209.hp1
HG03471.hp1
 intron_variant MODIFIER c.2121+1983A>G
c.2121+1983A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 8/10 chr21 36763029
chr21:36763064 G
G
 A
A
 1 a0001c0001t0051g0168
a0001c0001t0051g0168
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.2121+1948C>T
c.2121+1948C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 8/10 chr21 36763064
chr21:36763107 C
C
 T
T
 10 a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
others(7): Show 
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0009c0009t0012g0196
 10 HG00735.hp1
HG01891.hp1
HG02145.hp1
others(7): Show 
HG00735.hp1
HG01891.hp1
HG02145.hp1
HG02647.hp1
HG02647.hp2
HG02818.hp1
HG02896.hp1
HG02897.hp2
HG03195.hp2
NA19043.hp2
 intron_variant MODIFIER c.2121+1905G>A
c.2121+1905G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 8/10 chr21 36763107
chr21:36763118 G
G
 A
A
 4 a0001c0001t0009g0178
a0001c0001t0009g0235
a0001c0001t0009g0236
others(1): Show 
a0001c0001t0009g0178
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0074g0087
 4 HG00280.hp2
HG00735.hp2
HG01255.hp1
others(1): Show 
HG00280.hp2
HG00735.hp2
HG01255.hp1
HG01361.hp2
 intron_variant MODIFIER c.2121+1894C>T
c.2121+1894C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 8/10 chr21 36763118
chr21:36763256 C
C
 T
T
 45 a0001c0001t0002g0193
a0001c0001t0003g0184
a0001c0001t0003g0228
others(42): Show 
a0001c0001t0002g0193
a0001c0001t0003g0184
a0001c0001t0003g0228
a0001c0001t0004g0009
a0001c0001t0004g0138
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0006g0096
a0001c0001t0006g0127
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0013g0223
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0091
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0033g0104
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0059g0180
a0001c0001t0063g0208
a0001c0001t0084g0075
a0001c0001t0089g0099
a0001c0001t0107g0050
a0001c0017t0108g0082
a0002c0002t0015g0142
a0002c0002t0043g0152
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0007c0014t0070g0131
 45 HG00673.hp1
HG00741.hp1
HG00741.hp2
others(42): Show 
HG00673.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01071.hp1
HG01175.hp1
HG01175.hp2
HG01256.hp1
HG02280.hp1
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG03041.hp1
HG03098.hp1
HG03195.hp1
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
NA18940.hp2
NA18942.hp1
NA18944.hp1
NA18950.hp2
NA18967.hp1
NA18993.hp2
NA19030.hp1
NA19068.hp2
NA19240.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2121+1756G>A
c.2121+1756G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 8/10 chr21 36763256
chr21:36763300 G
G
 A
A
 10 a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
others(7): Show 
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0009c0009t0012g0196
 10 HG00735.hp1
HG01891.hp1
HG02145.hp1
others(7): Show 
HG00735.hp1
HG01891.hp1
HG02145.hp1
HG02647.hp1
HG02647.hp2
HG02818.hp1
HG02896.hp1
HG02897.hp2
HG03195.hp2
NA19043.hp2
 intron_variant MODIFIER c.2121+1712C>T
c.2121+1712C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 8/10 chr21 36763300
chr21:36763488 C
C
 T
T
 45 a0001c0001t0002g0193
a0001c0001t0003g0184
a0001c0001t0003g0228
others(42): Show 
a0001c0001t0002g0193
a0001c0001t0003g0184
a0001c0001t0003g0228
a0001c0001t0004g0009
a0001c0001t0004g0138
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0006g0096
a0001c0001t0006g0127
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0013g0223
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0091
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0033g0104
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0059g0180
a0001c0001t0063g0208
a0001c0001t0084g0075
a0001c0001t0089g0099
a0001c0001t0107g0050
a0001c0017t0108g0082
a0002c0002t0015g0142
a0002c0002t0043g0152
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0007c0014t0070g0131
 45 HG00673.hp1
HG00741.hp1
HG00741.hp2
others(42): Show 
HG00673.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01071.hp1
HG01175.hp1
HG01175.hp2
HG01256.hp1
HG02280.hp1
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG03041.hp1
HG03098.hp1
HG03195.hp1
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
NA18940.hp2
NA18942.hp1
NA18944.hp1
NA18950.hp2
NA18967.hp1
NA18993.hp2
NA19030.hp1
NA19068.hp2
NA19240.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2121+1524G>A
c.2121+1524G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 8/10 chr21 36763488
chr21:36763489 G
G
 A
A
 1 a0001c0001t0011g0118
a0001c0001t0011g0118
 1 NA18947.hp1
NA18947.hp1
 intron_variant MODIFIER c.2121+1523C>T
c.2121+1523C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 8/10 chr21 36763489
chr21:36763899 G
G
 C
C
 78 a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
others(75): Show 
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0128
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0244
a0001c0001t0004g0032
a0001c0001t0005g0003
a0001c0001t0005g0086
a0001c0001t0005g0115
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0125
a0001c0001t0007g0227
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0013g0231
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0016g0098
a0001c0001t0021g0129
a0001c0001t0036g0123
a0001c0001t0037g0254
a0001c0001t0049g0233
a0001c0001t0057g0225
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0110g0023
a0001c0003t0007g0210
a0001c0003t0050g0206
a0001c0003t0060g0203
a0001c0007t0012g0207
a0001c0010t0011g0020
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0027g0157
a0004c0019t0112g0258
a0006c0016t0001g0116
a0008c0012t0035g0069
 78 HG00280.hp1
HG00438.hp1
HG00438.hp2
others(75): Show 
HG00280.hp1
HG00438.hp1
HG00438.hp2
HG00639.hp2
HG00673.hp2
HG00738.hp1
HG01070.hp2
HG01071.hp2
HG01099.hp1
HG01123.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01255.hp2
HG01257.hp1
HG01346.hp2
HG01496.hp2
HG01515.hp1
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02109.hp2
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02257.hp1
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02683.hp2
HG03239.hp2
HG03490.hp1
HG03492.hp1
HG04115.hp2
NA18612.hp2
NA18939.hp2
NA18940.hp1
NA18942.hp2
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp1
NA19088.hp1
NA20805.hp1
 intron_variant MODIFIER c.2121+1113C>G
c.2121+1113C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 8/10 chr21 36763899
chr21:36763960 T
T
 C
C
 257 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(254): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 257 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(254): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2121+1052A>G
c.2121+1052A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 8/10 chr21 36763960
chr21:36763965 T
T
 C
C
 257 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(254): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 257 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(254): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2121+1047A>G
c.2121+1047A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 8/10 chr21 36763965
chr21:36763968 G
G
 C
C
 1 a0001c0001t0013g0240
a0001c0001t0013g0240
 1 NA18939.hp1
NA18939.hp1
 intron_variant MODIFIER c.2121+1044C>G
c.2121+1044C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 8/10 chr21 36763968
chr21:36764112 C
C
 T
T
 1 a0001c0001t0019g0101
a0001c0001t0019g0101
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.2121+900G>A
c.2121+900G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 8/10 chr21 36764112
chr21:36764137 G
G
 A
A
 2 a0001c0001t0011g0022
a0006c0016t0001g0116
a0001c0001t0011g0022
a0006c0016t0001g0116
 2 NA18977.hp1
NA18989.hp1
NA18977.hp1
NA18989.hp1
 intron_variant MODIFIER c.2121+875C>T
c.2121+875C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 8/10 chr21 36764137
chr21:36764433 G
G
 T
T
 1 a0001c0001t0069g0255
a0001c0001t0069g0255
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.2121+579C>A
c.2121+579C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 8/10 chr21 36764433
chr21:36764501 C
C
 T
T
 3 a0001c0001t0004g0009
a0001c0001t0059g0180
a0001c0001t0084g0075
a0001c0001t0004g0009
a0001c0001t0059g0180
a0001c0001t0084g0075
 3 HG01070.hp1
HG01256.hp1
homoSapiens_chm13v2.hp1
HG01070.hp1
HG01256.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2121+511G>A
c.2121+511G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 8/10 chr21 36764501
chr21:36764950 CAAG
CAAG
 C
C
 5 a0001c0001t0022g0187
a0001c0001t0037g0254
a0001c0001t0069g0255
others(2): Show 
a0001c0001t0022g0187
a0001c0001t0037g0254
a0001c0001t0069g0255
a0001c0001t0093g0133
a0001c0013t0022g0177
 5 HG01099.hp2
HG01884.hp1
HG02109.hp2
others(2): Show 
HG01099.hp2
HG01884.hp1
HG02109.hp2
HG02809.hp2
HG02896.hp2
 intron_variant MODIFIER c.2121+59_2121+61del
others(3): Show 
c.2121+59_2121+61delCTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 8/10 chr21 36764950
chr21:36765296 C
C
 T
T
 48 a0001c0001t0002g0193
a0001c0001t0003g0184
a0001c0001t0003g0228
others(45): Show 
a0001c0001t0002g0193
a0001c0001t0003g0184
a0001c0001t0003g0228
a0001c0001t0004g0009
a0001c0001t0004g0138
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0006g0096
a0001c0001t0006g0127
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0013g0223
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0091
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0033g0104
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0051g0168
a0001c0001t0056g0198
a0001c0001t0059g0180
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0084g0075
a0001c0001t0089g0099
a0001c0001t0107g0050
a0001c0017t0108g0082
a0002c0002t0015g0142
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0007c0014t0070g0131
 48 HG00639.hp1
HG00673.hp1
HG00741.hp1
others(45): Show 
HG00639.hp1
HG00673.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01256.hp1
HG02280.hp1
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
NA18940.hp2
NA18942.hp1
NA18944.hp1
NA18950.hp2
NA18967.hp1
NA18993.hp2
NA19030.hp1
NA19068.hp2
NA19240.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1961-124G>A
c.1961-124G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 7/10 chr21 36765296
chr21:36765349 CTG
CTG
 C
C
 3 a0001c0001t0051g0168
a0001c0001t0066g0059
a0002c0002t0041g0148
a0001c0001t0051g0168
a0001c0001t0066g0059
a0002c0002t0041g0148
 3 HG00639.hp1
HG01106.hp2
HG03130.hp1
HG00639.hp1
HG01106.hp2
HG03130.hp1
 intron_variant MODIFIER c.1961-179_1961-178d
others(4): Show 
c.1961-179_1961-178delCA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 7/10 chr21 36765349
chr21:36765417 G
G
 C
C
 2 a0001c0001t0005g0113
a0001c0003t0003g0204
a0001c0001t0005g0113
a0001c0003t0003g0204
 2 NA18970.hp2
NA18971.hp2
NA18970.hp2
NA18971.hp2
 intron_variant MODIFIER c.1961-245C>G
c.1961-245C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 7/10 chr21 36765417
chr21:36765649 TTTATTA
TTTATTA
 T
T
 3 a0001c0001t0018g0189
a0001c0004t0072g0248
a0002c0002t0018g0153
a0001c0001t0018g0189
a0001c0004t0072g0248
a0002c0002t0018g0153
 3 HG01952.hp2
HG03471.hp2
NA18522.hp2
HG01952.hp2
HG03471.hp2
NA18522.hp2
 intron_variant MODIFIER c.1961-483_1961-478d
others(8): Show 
c.1961-483_1961-478delTAATAA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 7/10 chr21 36765649
chr21:36765795 C
C
 T
T
 1 a0001c0001t0057g0225
a0001c0001t0057g0225
 1 NA18979.hp1
NA18979.hp1
 intron_variant MODIFIER c.1961-623G>A
c.1961-623G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 7/10 chr21 36765795
chr21:36766022 T
T
 C
C
 1 a0001c0001t0001g0017
a0001c0001t0001g0017
 1 NA19068.hp1
NA19068.hp1
 intron_variant MODIFIER c.1961-850A>G
c.1961-850A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 7/10 chr21 36766022
chr21:36766030 C
C
 T
T
 10 a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
others(7): Show 
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0009c0009t0012g0196
 10 HG00735.hp1
HG01891.hp1
HG02145.hp1
others(7): Show 
HG00735.hp1
HG01891.hp1
HG02145.hp1
HG02647.hp1
HG02647.hp2
HG02818.hp1
HG02896.hp1
HG02897.hp2
HG03195.hp2
NA19043.hp2
 intron_variant MODIFIER c.1961-858G>A
c.1961-858G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 7/10 chr21 36766030
chr21:36766100 C
C
 T
T
 86 a0001c0001t0001g0006
a0001c0001t0001g0041
a0001c0001t0001g0071
others(83): Show 
a0001c0001t0001g0006
a0001c0001t0001g0041
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0174
a0001c0001t0002g0238
a0001c0001t0003g0175
a0001c0001t0003g0226
a0001c0001t0003g0230
a0001c0001t0004g0007
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0113
a0001c0001t0005g0135
a0001c0001t0006g0085
a0001c0001t0006g0109
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0249
a0001c0001t0012g0234
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0016g0047
a0001c0001t0016g0106
a0001c0001t0019g0061
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0130
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0140
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0061g0163
a0001c0001t0065g0252
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0085g0110
a0001c0001t0091g0042
a0001c0001t0094g0031
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0054g0217
a0001c0003t0111g0137
a0001c0007t0007g0200
a0001c0008t0008g0001
a0001c0018t0004g0060
a0002c0002t0013g0147
a0002c0002t0040g0242
a0002c0002t0045g0151
a0005c0011t0033g0139
 86 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(83): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00735.hp2
HG00738.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp2
HG01975.hp1
HG01981.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02145.hp2
HG02257.hp2
HG02486.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp1
HG03490.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG04115.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18945.hp2
NA18950.hp1
NA18951.hp2
NA18967.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp1
NA18984.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19074.hp2
NA19084.hp2
NA19088.hp2
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.1961-928G>A
c.1961-928G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 7/10 chr21 36766100
chr21:36766185 G
G
 A
A
 44 a0001c0001t0002g0193
a0001c0001t0003g0184
a0001c0001t0003g0228
others(41): Show 
a0001c0001t0002g0193
a0001c0001t0003g0184
a0001c0001t0003g0228
a0001c0001t0004g0009
a0001c0001t0004g0138
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0006g0096
a0001c0001t0006g0127
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0013g0223
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0091
a0001c0001t0019g0247
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0033g0104
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0059g0180
a0001c0001t0063g0208
a0001c0001t0084g0075
a0001c0001t0089g0099
a0001c0001t0107g0050
a0001c0017t0108g0082
a0002c0002t0015g0142
a0002c0002t0043g0152
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0007c0014t0070g0131
 44 HG00673.hp1
HG00741.hp1
HG00741.hp2
others(41): Show 
HG00673.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01071.hp1
HG01175.hp1
HG01175.hp2
HG01256.hp1
HG02280.hp1
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG03041.hp1
HG03098.hp1
HG03195.hp1
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
NA18940.hp2
NA18942.hp1
NA18944.hp1
NA18950.hp2
NA18967.hp1
NA18993.hp2
NA19068.hp2
NA19240.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1961-1013C>T
c.1961-1013C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 7/10 chr21 36766185
chr21:36766199 T
T
 A
A
 10 a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
others(7): Show 
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0009c0009t0012g0196
 10 HG00735.hp1
HG01891.hp1
HG02145.hp1
others(7): Show 
HG00735.hp1
HG01891.hp1
HG02145.hp1
HG02647.hp1
HG02647.hp2
HG02818.hp1
HG02896.hp1
HG02897.hp2
HG03195.hp2
NA19043.hp2
 intron_variant MODIFIER c.1960+1019A>T
c.1960+1019A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 7/10 chr21 36766199
chr21:36766353 A
A
 G
G
 1 a0001c0001t0001g0011
a0001c0001t0001g0011
 1 HG02523.hp1
HG02523.hp1
 intron_variant MODIFIER c.1960+865T>C
c.1960+865T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 7/10 chr21 36766353
chr21:36766415 C
C
 CA
CA
 48 a0001c0001t0002g0193
a0001c0001t0003g0184
a0001c0001t0003g0228
others(45): Show 
a0001c0001t0002g0193
a0001c0001t0003g0184
a0001c0001t0003g0228
a0001c0001t0004g0009
a0001c0001t0004g0138
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0006g0096
a0001c0001t0006g0127
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0013g0223
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0091
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0033g0104
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0051g0168
a0001c0001t0056g0198
a0001c0001t0059g0180
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0084g0075
a0001c0001t0089g0099
a0001c0001t0107g0050
a0001c0017t0108g0082
a0002c0002t0015g0142
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0007c0014t0070g0131
 48 HG00639.hp1
HG00673.hp1
HG00741.hp1
others(45): Show 
HG00639.hp1
HG00673.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01256.hp1
HG02280.hp1
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
NA18940.hp2
NA18942.hp1
NA18944.hp1
NA18950.hp2
NA18967.hp1
NA18993.hp2
NA19030.hp1
NA19068.hp2
NA19240.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1960+802dupT
c.1960+802dupT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 7/10 chr21 36766415
chr21:36766471 T
T
 C
C
 3 a0001c0001t0018g0189
a0001c0004t0072g0248
a0002c0002t0018g0153
a0001c0001t0018g0189
a0001c0004t0072g0248
a0002c0002t0018g0153
 3 HG01952.hp2
HG03471.hp2
NA18522.hp2
HG01952.hp2
HG03471.hp2
NA18522.hp2
 intron_variant MODIFIER c.1960+747A>G
c.1960+747A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 7/10 chr21 36766471
chr21:36766582 A
A
 C
C
 3 a0001c0001t0018g0189
a0001c0004t0072g0248
a0002c0002t0018g0153
a0001c0001t0018g0189
a0001c0004t0072g0248
a0002c0002t0018g0153
 3 HG01952.hp2
HG03471.hp2
NA18522.hp2
HG01952.hp2
HG03471.hp2
NA18522.hp2
 intron_variant MODIFIER c.1960+636T>G
c.1960+636T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 7/10 chr21 36766582
chr21:36766694 G
G
 A
A
 3 a0001c0001t0056g0198
a0001c0017t0108g0082
a0002c0002t0064g0243
a0001c0001t0056g0198
a0001c0017t0108g0082
a0002c0002t0064g0243
 3 HG03041.hp1
HG03195.hp1
HG03209.hp1
HG03041.hp1
HG03195.hp1
HG03209.hp1
 intron_variant MODIFIER c.1960+524C>T
c.1960+524C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 7/10 chr21 36766694
chr21:36766711 G
G
 A
A
 1 a0001c0001t0001g0062
a0001c0001t0001g0062
 1 HG01975.hp2
HG01975.hp2
 intron_variant MODIFIER c.1960+507C>T
c.1960+507C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 7/10 chr21 36766711
chr21:36766744 G
G
 T
T
 15 a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0010g0213
others(12): Show 
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0010g0213
a0001c0001t0018g0176
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0071g0089
a0001c0001t0073g0246
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0062g0145
 15 HG01257.hp2
HG01258.hp1
HG02280.hp2
others(12): Show 
HG01257.hp2
HG01258.hp1
HG02280.hp2
HG02559.hp1
HG02717.hp1
HG02723.hp2
HG02886.hp2
HG02976.hp1
HG03098.hp2
HG03130.hp2
HG03209.hp2
HG03225.hp2
HG03516.hp1
HG06807.hp1
NA19240.hp2
 intron_variant MODIFIER c.1960+474C>A
c.1960+474C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 7/10 chr21 36766744
chr21:36767018 G
G
 A
A
 1 a0001c0001t0101g0008
a0001c0001t0101g0008
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.1960+200C>T
c.1960+200C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 7/10 chr21 36767018
chr21:36767101 T
T
 A
A
 51 a0001c0001t0002g0193
a0001c0001t0003g0184
a0001c0001t0003g0228
others(48): Show 
a0001c0001t0002g0193
a0001c0001t0003g0184
a0001c0001t0003g0228
a0001c0001t0004g0009
a0001c0001t0004g0138
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0006g0096
a0001c0001t0006g0127
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0013g0223
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0091
a0001c0001t0018g0189
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0033g0104
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0051g0168
a0001c0001t0056g0198
a0001c0001t0059g0180
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0084g0075
a0001c0001t0089g0099
a0001c0001t0107g0050
a0001c0004t0072g0248
a0001c0017t0108g0082
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0007c0014t0070g0131
 51 HG00639.hp1
HG00673.hp1
HG00741.hp1
others(48): Show 
HG00639.hp1
HG00673.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01256.hp1
HG01952.hp2
HG02280.hp1
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
NA18522.hp2
NA18940.hp2
NA18942.hp1
NA18944.hp1
NA18950.hp2
NA18967.hp1
NA18993.hp2
NA19030.hp1
NA19068.hp2
NA19240.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1960+117A>T
c.1960+117A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 7/10 chr21 36767101
chr21:36767202 A
A
 T
T
 15 a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0010g0213
others(12): Show 
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0010g0213
a0001c0001t0018g0176
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0071g0089
a0001c0001t0073g0246
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0062g0145
 15 HG01257.hp2
HG01258.hp1
HG02280.hp2
others(12): Show 
HG01257.hp2
HG01258.hp1
HG02280.hp2
HG02559.hp1
HG02717.hp1
HG02723.hp2
HG02886.hp2
HG02976.hp1
HG03098.hp2
HG03130.hp2
HG03209.hp2
HG03225.hp2
HG03516.hp1
HG06807.hp1
NA19240.hp2
 intron_variant MODIFIER c.1960+16T>A
c.1960+16T>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 7/10 chr21 36767202
chr21:36767331 C
C
 A
A
 171 a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
others(168): Show 
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0128
a0001c0001t0002g0165
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0003g0228
a0001c0001t0003g0244
a0001c0001t0004g0009
a0001c0001t0004g0032
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0115
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0096
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0227
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0021g0129
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0033g0104
a0001c0001t0036g0123
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0093g0133
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0003t0007g0210
a0001c0003t0050g0206
a0001c0003t0060g0203
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 171 HG00280.hp1
HG00438.hp1
HG00438.hp2
others(168): Show 
HG00280.hp1
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01123.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.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.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03710.hp2
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19084.hp1
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-46G>T
c.1893-46G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36767331
chr21:36767528 G
G
 A
A
 12 a0001c0001t0002g0165
a0001c0001t0009g0201
a0001c0001t0009g0202
others(9): Show 
a0001c0001t0002g0165
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0028g0192
a0001c0001t0037g0083
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0086g0044
a0001c0001t0090g0005
a0001c0015t0052g0239
 12 HG01256.hp2
HG01258.hp2
HG01515.hp2
others(9): Show 
HG01256.hp2
HG01258.hp2
HG01515.hp2
HG01978.hp1
HG02083.hp1
HG03139.hp1
HG03492.hp2
HG03710.hp2
HG03927.hp2
HG04204.hp2
NA18961.hp2
NA19004.hp1
 intron_variant MODIFIER c.1893-243C>T
c.1893-243C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36767528
chr21:36767535 C
C
 T
T
 1 a0001c0001t0028g0192
a0001c0001t0028g0192
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.1893-250G>A
c.1893-250G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36767535
chr21:36767564 T
T
 G
G
 4 a0001c0001t0022g0187
a0001c0001t0069g0255
a0001c0001t0093g0133
others(1): Show 
a0001c0001t0022g0187
a0001c0001t0069g0255
a0001c0001t0093g0133
a0001c0013t0022g0177
 4 HG01099.hp2
HG01884.hp1
HG02809.hp2
others(1): Show 
HG01099.hp2
HG01884.hp1
HG02809.hp2
HG02896.hp2
 intron_variant MODIFIER c.1893-279A>C
c.1893-279A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36767564
chr21:36767577 T
T
 A
A
 47 a0001c0001t0002g0193
a0001c0001t0003g0184
a0001c0001t0003g0228
others(44): Show 
a0001c0001t0002g0193
a0001c0001t0003g0184
a0001c0001t0003g0228
a0001c0001t0004g0009
a0001c0001t0004g0138
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0013g0223
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0091
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0033g0104
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0059g0180
a0001c0001t0063g0208
a0001c0001t0084g0075
a0001c0001t0089g0099
a0001c0001t0107g0050
a0001c0003t0111g0137
a0001c0017t0108g0082
a0002c0002t0015g0142
a0002c0002t0043g0152
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0007c0014t0070g0131
 47 HG00673.hp1
HG00741.hp1
HG00741.hp2
others(44): Show 
HG00673.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01071.hp1
HG01175.hp1
HG01175.hp2
HG01256.hp1
HG01975.hp1
HG02280.hp1
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG03041.hp1
HG03098.hp1
HG03195.hp1
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
NA18940.hp2
NA18942.hp1
NA18944.hp1
NA18950.hp2
NA18967.hp1
NA18993.hp2
NA19030.hp1
NA19068.hp2
NA19240.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-292A>T
c.1893-292A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36767577
chr21:36767578 G
G
 A
A
 47 a0001c0001t0002g0193
a0001c0001t0003g0184
a0001c0001t0003g0228
others(44): Show 
a0001c0001t0002g0193
a0001c0001t0003g0184
a0001c0001t0003g0228
a0001c0001t0004g0009
a0001c0001t0004g0138
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0013g0223
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0091
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0033g0104
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0059g0180
a0001c0001t0063g0208
a0001c0001t0084g0075
a0001c0001t0089g0099
a0001c0001t0107g0050
a0001c0003t0111g0137
a0001c0017t0108g0082
a0002c0002t0015g0142
a0002c0002t0043g0152
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0007c0014t0070g0131
 47 HG00673.hp1
HG00741.hp1
HG00741.hp2
others(44): Show 
HG00673.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01071.hp1
HG01175.hp1
HG01175.hp2
HG01256.hp1
HG01975.hp1
HG02280.hp1
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG03041.hp1
HG03098.hp1
HG03195.hp1
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
NA18940.hp2
NA18942.hp1
NA18944.hp1
NA18950.hp2
NA18967.hp1
NA18993.hp2
NA19030.hp1
NA19068.hp2
NA19240.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-293C>T
c.1893-293C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36767578
chr21:36767579 G
G
 C
C
 47 a0001c0001t0002g0193
a0001c0001t0003g0184
a0001c0001t0003g0228
others(44): Show 
a0001c0001t0002g0193
a0001c0001t0003g0184
a0001c0001t0003g0228
a0001c0001t0004g0009
a0001c0001t0004g0138
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0013g0223
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0091
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0033g0104
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0059g0180
a0001c0001t0063g0208
a0001c0001t0084g0075
a0001c0001t0089g0099
a0001c0001t0107g0050
a0001c0003t0111g0137
a0001c0017t0108g0082
a0002c0002t0015g0142
a0002c0002t0043g0152
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0007c0014t0070g0131
 47 HG00673.hp1
HG00741.hp1
HG00741.hp2
others(44): Show 
HG00673.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01071.hp1
HG01175.hp1
HG01175.hp2
HG01256.hp1
HG01975.hp1
HG02280.hp1
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG03041.hp1
HG03098.hp1
HG03195.hp1
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
NA18940.hp2
NA18942.hp1
NA18944.hp1
NA18950.hp2
NA18967.hp1
NA18993.hp2
NA19030.hp1
NA19068.hp2
NA19240.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-294C>G
c.1893-294C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36767579
chr21:36767580 T
T
 C
C
 47 a0001c0001t0002g0193
a0001c0001t0003g0184
a0001c0001t0003g0228
others(44): Show 
a0001c0001t0002g0193
a0001c0001t0003g0184
a0001c0001t0003g0228
a0001c0001t0004g0009
a0001c0001t0004g0138
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0013g0223
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0091
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0033g0104
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0059g0180
a0001c0001t0063g0208
a0001c0001t0084g0075
a0001c0001t0089g0099
a0001c0001t0107g0050
a0001c0003t0111g0137
a0001c0017t0108g0082
a0002c0002t0015g0142
a0002c0002t0043g0152
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0007c0014t0070g0131
 47 HG00673.hp1
HG00741.hp1
HG00741.hp2
others(44): Show 
HG00673.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01071.hp1
HG01175.hp1
HG01175.hp2
HG01256.hp1
HG01975.hp1
HG02280.hp1
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG03041.hp1
HG03098.hp1
HG03195.hp1
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
NA18940.hp2
NA18942.hp1
NA18944.hp1
NA18950.hp2
NA18967.hp1
NA18993.hp2
NA19030.hp1
NA19068.hp2
NA19240.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-295A>G
c.1893-295A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36767580
chr21:36767705 T
T
 C
C
 51 a0001c0001t0002g0193
a0001c0001t0003g0184
a0001c0001t0003g0228
others(48): Show 
a0001c0001t0002g0193
a0001c0001t0003g0184
a0001c0001t0003g0228
a0001c0001t0004g0009
a0001c0001t0004g0138
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0006g0096
a0001c0001t0006g0127
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0013g0223
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0091
a0001c0001t0018g0189
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0033g0104
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0051g0168
a0001c0001t0056g0198
a0001c0001t0059g0180
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0084g0075
a0001c0001t0089g0099
a0001c0001t0107g0050
a0001c0004t0072g0248
a0001c0017t0108g0082
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0007c0014t0070g0131
 51 HG00639.hp1
HG00673.hp1
HG00741.hp1
others(48): Show 
HG00639.hp1
HG00673.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01256.hp1
HG01952.hp2
HG02280.hp1
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
NA18522.hp2
NA18940.hp2
NA18942.hp1
NA18944.hp1
NA18950.hp2
NA18967.hp1
NA18993.hp2
NA19030.hp1
NA19068.hp2
NA19240.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-420A>G
c.1893-420A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36767705
chr21:36767732 A
A
 C
C
 1 a0001c0001t0030g0257
a0001c0001t0030g0257
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.1893-447T>G
c.1893-447T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36767732
chr21:36767874 G
G
 A
A
 4 a0001c0001t0022g0187
a0001c0001t0069g0255
a0001c0001t0093g0133
others(1): Show 
a0001c0001t0022g0187
a0001c0001t0069g0255
a0001c0001t0093g0133
a0001c0013t0022g0177
 4 HG01099.hp2
HG01884.hp1
HG02809.hp2
others(1): Show 
HG01099.hp2
HG01884.hp1
HG02809.hp2
HG02896.hp2
 intron_variant MODIFIER c.1893-589C>T
c.1893-589C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36767874
chr21:36767961 A
A
 C
C
 86 a0001c0001t0001g0006
a0001c0001t0001g0041
a0001c0001t0001g0071
others(83): Show 
a0001c0001t0001g0006
a0001c0001t0001g0041
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0174
a0001c0001t0002g0238
a0001c0001t0003g0175
a0001c0001t0003g0226
a0001c0001t0003g0230
a0001c0001t0004g0007
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0113
a0001c0001t0005g0135
a0001c0001t0006g0085
a0001c0001t0006g0109
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0249
a0001c0001t0012g0234
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0016g0047
a0001c0001t0016g0106
a0001c0001t0019g0061
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0130
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0140
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0061g0163
a0001c0001t0065g0252
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0085g0110
a0001c0001t0091g0042
a0001c0001t0094g0031
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0054g0217
a0001c0003t0111g0137
a0001c0007t0007g0200
a0001c0008t0008g0001
a0001c0018t0004g0060
a0002c0002t0013g0147
a0002c0002t0040g0242
a0002c0002t0045g0151
a0005c0011t0033g0139
 86 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(83): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00735.hp2
HG00738.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp2
HG01975.hp1
HG01981.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02145.hp2
HG02257.hp2
HG02486.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp1
HG03490.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG04115.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18945.hp2
NA18950.hp1
NA18951.hp2
NA18967.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp1
NA18984.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19074.hp2
NA19084.hp2
NA19088.hp2
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.1893-676T>G
c.1893-676T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36767961
chr21:36768038 T
T
 C
C
 4 a0001c0001t0022g0187
a0001c0001t0069g0255
a0001c0001t0093g0133
others(1): Show 
a0001c0001t0022g0187
a0001c0001t0069g0255
a0001c0001t0093g0133
a0001c0013t0022g0177
 4 HG01099.hp2
HG01884.hp1
HG02809.hp2
others(1): Show 
HG01099.hp2
HG01884.hp1
HG02809.hp2
HG02896.hp2
 intron_variant MODIFIER c.1893-753A>G
c.1893-753A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36768038
chr21:36768044 G
G
 A
A
 1 a0001c0001t0014g0159
a0001c0001t0014g0159
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.1893-759C>T
c.1893-759C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36768044
chr21:36768077 T
T
 C
C
 1 a0001c0001t0002g0174
a0001c0001t0002g0174
 1 NA20805.hp2
NA20805.hp2
 intron_variant MODIFIER c.1893-792A>G
c.1893-792A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36768077
chr21:36768129 G
G
 T
T
 22 a0001c0001t0003g0184
a0001c0001t0003g0228
a0001c0001t0004g0009
others(19): Show 
a0001c0001t0003g0184
a0001c0001t0003g0228
a0001c0001t0004g0009
a0001c0001t0004g0138
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0006g0096
a0001c0001t0006g0127
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0016g0091
a0001c0001t0033g0104
a0001c0001t0059g0180
a0001c0001t0084g0075
a0001c0001t0089g0099
a0002c0002t0048g0144
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0007c0014t0070g0131
 22 HG00673.hp1
HG00741.hp1
HG01070.hp1
others(19): Show 
HG00673.hp1
HG00741.hp1
HG01070.hp1
HG01071.hp1
HG01175.hp1
HG01175.hp2
HG01256.hp1
HG02895.hp1
HG02897.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
NA18940.hp2
NA18942.hp1
NA18944.hp1
NA18950.hp2
NA18967.hp1
NA18993.hp2
NA19068.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-844C>A
c.1893-844C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36768129
chr21:36768199 G
G
 A
A
 1 a0001c0001t0057g0225
a0001c0001t0057g0225
 1 NA18979.hp1
NA18979.hp1
 intron_variant MODIFIER c.1893-914C>T
c.1893-914C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36768199
chr21:36768358 G
G
 C
C
 25 a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0010g0213
others(22): Show 
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0010g0213
a0001c0001t0018g0176
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0062g0145
a0009c0009t0012g0196
 25 HG00735.hp1
HG01257.hp2
HG01258.hp1
others(22): Show 
HG00735.hp1
HG01257.hp2
HG01258.hp1
HG01891.hp1
HG02145.hp1
HG02280.hp2
HG02559.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02723.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02897.hp2
HG02976.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp2
HG03516.hp1
HG06807.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.1893-1073C>G
c.1893-1073C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36768358
chr21:36768670 G
G
 T
T
 3 a0001c0001t0005g0052
a0001c0001t0005g0135
a0002c0002t0013g0147
a0001c0001t0005g0052
a0001c0001t0005g0135
a0002c0002t0013g0147
 3 HG02615.hp1
HG03139.hp2
NA19043.hp1
HG02615.hp1
HG03139.hp2
NA19043.hp1
 intron_variant MODIFIER c.1893-1385C>A
c.1893-1385C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36768670
chr21:36768809 G
G
 A
A
 1 a0001c0001t0005g0094
a0001c0001t0005g0094
 1 NA18940.hp2
NA18940.hp2
 intron_variant MODIFIER c.1893-1524C>T
c.1893-1524C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36768809
chr21:36768822 G
G
 C
C
 1 a0001c0001t0098g0035
a0001c0001t0098g0035
 1 NA18975.hp1
NA18975.hp1
 intron_variant MODIFIER c.1893-1537C>G
c.1893-1537C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36768822
chr21:36768923 C
C
 G
G
 1 a0001c0001t0037g0254
a0001c0001t0037g0254
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.1893-1638G>C
c.1893-1638G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36768923
chr21:36768950 G
G
 C
C
 1 a0001c0001t0018g0189
a0001c0001t0018g0189
 1 HG01952.hp2
HG01952.hp2
 intron_variant MODIFIER c.1893-1665C>G
c.1893-1665C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36768950
chr21:36769262 G
G
 A
A
 44 a0001c0001t0002g0193
a0001c0001t0003g0184
a0001c0001t0003g0228
others(41): Show 
a0001c0001t0002g0193
a0001c0001t0003g0184
a0001c0001t0003g0228
a0001c0001t0004g0009
a0001c0001t0004g0138
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0006g0096
a0001c0001t0006g0127
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0013g0223
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0091
a0001c0001t0019g0247
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0033g0104
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0059g0180
a0001c0001t0063g0208
a0001c0001t0084g0075
a0001c0001t0089g0099
a0001c0001t0107g0050
a0001c0017t0108g0082
a0002c0002t0015g0142
a0002c0002t0043g0152
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0007c0014t0070g0131
 44 HG00673.hp1
HG00741.hp1
HG00741.hp2
others(41): Show 
HG00673.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01071.hp1
HG01175.hp1
HG01175.hp2
HG01256.hp1
HG02280.hp1
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG03041.hp1
HG03098.hp1
HG03195.hp1
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
NA18940.hp2
NA18942.hp1
NA18944.hp1
NA18950.hp2
NA18967.hp1
NA18993.hp2
NA19068.hp2
NA19240.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-1977C>T
c.1893-1977C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36769262
chr21:36769346 G
G
 A
A
 3 a0001c0001t0051g0168
a0001c0001t0066g0059
a0002c0002t0041g0148
a0001c0001t0051g0168
a0001c0001t0066g0059
a0002c0002t0041g0148
 3 HG00639.hp1
HG01106.hp2
HG03130.hp1
HG00639.hp1
HG01106.hp2
HG03130.hp1
 intron_variant MODIFIER c.1893-2061C>T
c.1893-2061C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36769346
chr21:36769475 T
T
 C
C
 1 a0001c0001t0019g0101
a0001c0001t0019g0101
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.1893-2190A>G
c.1893-2190A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36769475
chr21:36769605 G
G
 A
A
 1 a0001c0001t0085g0110
a0001c0001t0085g0110
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.1893-2320C>T
c.1893-2320C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36769605
chr21:36769664 T
T
 G
G
 2 a0001c0001t0066g0059
a0002c0002t0041g0148
a0001c0001t0066g0059
a0002c0002t0041g0148
 2 HG00639.hp1
HG01106.hp2
HG00639.hp1
HG01106.hp2
 intron_variant MODIFIER c.1893-2379A>C
c.1893-2379A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36769664
chr21:36769704 T
T
 C
C
 2 a0001c0017t0108g0082
a0002c0002t0064g0243
a0001c0017t0108g0082
a0002c0002t0064g0243
 2 HG03041.hp1
HG03195.hp1
HG03041.hp1
HG03195.hp1
 intron_variant MODIFIER c.1893-2419A>G
c.1893-2419A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36769704
chr21:36769761 C
C
 T
T
 11 a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0004t0004g0046
others(8): Show 
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0009c0009t0012g0196
 11 HG01256.hp2
HG01258.hp2
HG01891.hp1
others(8): Show 
HG01256.hp2
HG01258.hp2
HG01891.hp1
HG02145.hp1
HG02647.hp1
HG02647.hp2
HG02818.hp1
HG02896.hp1
HG02897.hp2
HG03195.hp2
NA19043.hp2
 intron_variant MODIFIER c.1893-2476G>A
c.1893-2476G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36769761
chr21:36769796 C
C
 T
T
 10 a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
others(7): Show 
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0009c0009t0012g0196
 10 HG00735.hp1
HG01891.hp1
HG02145.hp1
others(7): Show 
HG00735.hp1
HG01891.hp1
HG02145.hp1
HG02647.hp1
HG02647.hp2
HG02818.hp1
HG02896.hp1
HG02897.hp2
HG03195.hp2
NA19043.hp2
 intron_variant MODIFIER c.1893-2511G>A
c.1893-2511G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36769796
chr21:36769870 G
G
 A
A
 2 a0001c0001t0001g0006
a0001c0001t0001g0122
a0001c0001t0001g0006
a0001c0001t0001g0122
 2 HG01346.hp1
HG01516.hp1
HG01346.hp1
HG01516.hp1
 intron_variant MODIFIER c.1893-2585C>T
c.1893-2585C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36769870
chr21:36770141 C
C
 CT
CT
 40 a0001c0001t0001g0017
a0001c0001t0002g0165
a0001c0001t0002g0171
others(37): Show 
a0001c0001t0001g0017
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0003g0173
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0006g0125
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0009g0236
a0001c0001t0010g0213
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0192
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0111
a0001c0001t0035g0097
a0001c0001t0037g0083
a0001c0001t0057g0225
a0001c0001t0069g0255
a0001c0001t0073g0246
a0001c0001t0075g0049
a0001c0001t0080g0093
a0001c0001t0086g0044
a0001c0001t0093g0133
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0062g0145
a0004c0019t0112g0258
 40 HG01099.hp2
HG01123.hp1
HG01192.hp2
others(37): Show 
HG01099.hp2
HG01123.hp1
HG01192.hp2
HG01257.hp2
HG01258.hp1
HG01361.hp2
HG01515.hp2
HG01884.hp1
HG01978.hp1
HG01981.hp2
HG02083.hp1
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02280.hp2
HG02486.hp1
HG02559.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02886.hp2
HG02896.hp2
HG02976.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03209.hp2
HG03225.hp2
HG03516.hp1
HG03710.hp2
HG03831.hp1
HG06807.hp1
NA18945.hp2
NA18961.hp2
NA18979.hp1
NA18979.hp2
NA19004.hp1
NA19068.hp1
NA19074.hp2
 intron_variant MODIFIER c.1893-2857dupA
c.1893-2857dupA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36770141
chr21:36770141 CT
CT
 C
C
 52 a0001c0001t0002g0193
a0001c0001t0004g0009
a0001c0001t0005g0094
others(49): Show 
a0001c0001t0002g0193
a0001c0001t0004g0009
a0001c0001t0005g0094
a0001c0001t0006g0096
a0001c0001t0006g0127
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0018g0189
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0028g0167
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0033g0104
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0051g0168
a0001c0001t0056g0198
a0001c0001t0059g0180
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0084g0075
a0001c0001t0107g0050
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0046g0150
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0007c0014t0070g0131
a0009c0009t0012g0196
 52 HG00639.hp1
HG00741.hp1
HG00741.hp2
others(49): Show 
HG00639.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01106.hp2
HG01175.hp2
HG01256.hp1
HG01891.hp1
HG01952.hp2
HG02145.hp1
HG02280.hp1
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG03041.hp1
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
NA18522.hp2
NA18940.hp2
NA18944.hp1
NA18993.hp2
NA19030.hp1
NA19043.hp2
NA19240.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-2857delA
c.1893-2857delA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36770141
chr21:36770141 CTT
CTT
 C
C
 5 a0001c0001t0003g0228
a0001c0001t0005g0056
a0001c0001t0016g0091
others(2): Show 
a0001c0001t0003g0228
a0001c0001t0005g0056
a0001c0001t0016g0091
a0001c0001t0089g0099
a0001c0004t0042g0209
 5 HG00673.hp1
HG00735.hp1
HG01071.hp1
others(2): Show 
HG00673.hp1
HG00735.hp1
HG01071.hp1
NA18942.hp1
NA18950.hp2
 intron_variant MODIFIER c.1893-2858_1893-285
others(6): Show 
c.1893-2858_1893-2857delAA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36770141
chr21:36770310 C
C
 A
A
 1 a0001c0010t0011g0020
a0001c0010t0011g0020
 1 NA18970.hp1
NA18970.hp1
 intron_variant MODIFIER c.1893-3025G>T
c.1893-3025G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36770310
chr21:36770946 G
G
 A
A
 1 a0001c0015t0052g0239
a0001c0015t0052g0239
 1 HG03710.hp2
HG03710.hp2
 intron_variant MODIFIER c.1893-3661C>T
c.1893-3661C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36770946
chr21:36770967 C
C
 G
G
 4 a0001c0001t0004g0138
a0001c0001t0006g0096
a0001c0001t0006g0127
others(1): Show 
a0001c0001t0004g0138
a0001c0001t0006g0096
a0001c0001t0006g0127
a0001c0001t0033g0104
 4 HG01175.hp1
HG02895.hp1
HG02897.hp1
others(1): Show 
HG01175.hp1
HG02895.hp1
HG02897.hp1
HG03540.hp1
 intron_variant MODIFIER c.1893-3682G>C
c.1893-3682G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36770967
chr21:36770969 C
C
 T
T
 12 a0001c0001t0002g0165
a0001c0001t0009g0201
a0001c0001t0009g0202
others(9): Show 
a0001c0001t0002g0165
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0028g0192
a0001c0001t0037g0083
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0086g0044
a0001c0001t0090g0005
a0001c0015t0052g0239
 12 HG01256.hp2
HG01258.hp2
HG01515.hp2
others(9): Show 
HG01256.hp2
HG01258.hp2
HG01515.hp2
HG01978.hp1
HG02083.hp1
HG03139.hp1
HG03492.hp2
HG03710.hp2
HG03927.hp2
HG04204.hp2
NA18961.hp2
NA19004.hp1
 intron_variant MODIFIER c.1893-3684G>A
c.1893-3684G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36770969
chr21:36770978 G
G
 T
T
 1 a0001c0001t0085g0110
a0001c0001t0085g0110
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.1893-3693C>A
c.1893-3693C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36770978
chr21:36771001 C
C
 T
T
 49 a0001c0001t0002g0193
a0001c0001t0003g0184
a0001c0001t0003g0228
others(46): Show 
a0001c0001t0002g0193
a0001c0001t0003g0184
a0001c0001t0003g0228
a0001c0001t0004g0009
a0001c0001t0004g0138
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0006g0096
a0001c0001t0006g0127
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0013g0223
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0091
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0021g0076
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0033g0104
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0051g0168
a0001c0001t0056g0198
a0001c0001t0059g0180
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0084g0075
a0001c0001t0089g0099
a0001c0001t0107g0050
a0001c0017t0108g0082
a0002c0002t0015g0142
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0007c0014t0070g0131
 49 HG00639.hp1
HG00673.hp1
HG00741.hp1
others(46): Show 
HG00639.hp1
HG00673.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01071.hp1
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01256.hp1
HG01433.hp2
HG02280.hp1
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
NA18940.hp2
NA18942.hp1
NA18944.hp1
NA18950.hp2
NA18967.hp1
NA18993.hp2
NA19030.hp1
NA19068.hp2
NA19240.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-3716G>A
c.1893-3716G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36771001
chr21:36771046 C
C
 T
T
 1 a0001c0015t0052g0239
a0001c0015t0052g0239
 1 HG03710.hp2
HG03710.hp2
 intron_variant MODIFIER c.1893-3761G>A
c.1893-3761G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36771046
chr21:36771219 C
C
 CAAAT
CAAAT
 17 a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
others(14): Show 
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0022g0187
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0037g0083
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0063g0208
a0001c0001t0069g0255
a0001c0001t0093g0133
a0001c0001t0098g0035
a0001c0001t0101g0008
a0001c0001t0107g0050
a0001c0013t0022g0177
a0002c0002t0015g0142
 17 HG00738.hp1
HG01099.hp2
HG01515.hp2
others(14): Show 
HG00738.hp1
HG01099.hp2
HG01515.hp2
HG01884.hp1
HG02280.hp1
HG02572.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG02922.hp2
HG02965.hp1
HG03453.hp1
HG03453.hp2
NA18975.hp1
 intron_variant MODIFIER c.1893-3938_1893-393
others(8): Show 
c.1893-3938_1893-3935dupATTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36771219
chr21:36771219 C
C
 CAAATAAA
others(1): Show 
CAAATAAAT
 10 a0001c0001t0002g0193
a0001c0001t0013g0223
a0001c0001t0030g0048
others(7): Show 
a0001c0001t0002g0193
a0001c0001t0013g0223
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0044g0161
a0001c0001t0056g0198
a0001c0017t0108g0082
a0002c0002t0043g0152
a0002c0002t0046g0150
a0002c0002t0064g0243
 10 HG00741.hp2
HG02486.hp2
HG02572.hp1
others(7): Show 
HG00741.hp2
HG02486.hp2
HG02572.hp1
HG02615.hp2
HG03041.hp1
HG03098.hp1
HG03195.hp1
HG03209.hp1
HG03471.hp1
HG03579.hp2
 intron_variant MODIFIER c.1893-3942_1893-393
others(12): Show 
c.1893-3942_1893-3935dupATTTATTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36771219
chr21:36771219 C
C
 CAAATAAA
others(5): Show 
CAAATAAATAAAT
 15 a0001c0001t0003g0228
a0001c0001t0004g0138
a0001c0001t0005g0056
others(12): Show 
a0001c0001t0003g0228
a0001c0001t0004g0138
a0001c0001t0005g0056
a0001c0001t0006g0096
a0001c0001t0006g0127
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0016g0091
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0033g0104
a0001c0001t0047g0188
a0001c0001t0089g0099
a0001c0004t0072g0248
 15 HG00673.hp1
HG01071.hp1
HG01175.hp1
others(12): Show 
HG00673.hp1
HG01071.hp1
HG01175.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG03471.hp2
HG03540.hp1
NA18942.hp1
NA18944.hp1
NA18950.hp2
NA18967.hp1
NA18993.hp2
NA19030.hp1
NA19240.hp1
 intron_variant MODIFIER c.1893-3946_1893-393
others(16): Show 
c.1893-3946_1893-3935dupATTTATTTATTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36771219
chr21:36771219 C
C
 CAAATAAA
others(9): Show 
CAAATAAATAAATAAAT
 17 a0001c0001t0003g0184
a0001c0001t0004g0009
a0001c0001t0005g0094
others(14): Show 
a0001c0001t0003g0184
a0001c0001t0004g0009
a0001c0001t0005g0094
a0001c0001t0021g0076
a0001c0001t0028g0167
a0001c0001t0051g0168
a0001c0001t0059g0180
a0001c0001t0066g0059
a0001c0001t0084g0075
a0002c0002t0018g0153
a0002c0002t0041g0148
a0002c0002t0048g0144
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0007c0014t0070g0131
 17 HG00639.hp1
HG00741.hp1
HG01070.hp1
others(14): Show 
HG00639.hp1
HG00741.hp1
HG01070.hp1
HG01106.hp2
HG01175.hp2
HG01256.hp1
HG01433.hp2
HG03130.hp1
HG03225.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
NA18522.hp2
NA18940.hp2
NA19068.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-3950_1893-393
others(20): Show 
c.1893-3950_1893-3935dupATTTATTTATTTATTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36771219
chr21:36771219 C
C
 CAAATAAA
others(17): Show 
CAAATAAATAAATAAATAAATAAAT
 1 a0001c0001t0018g0189
a0001c0001t0018g0189
 1 HG01952.hp2
HG01952.hp2
 intron_variant MODIFIER c.1893-3958_1893-393
others(28): Show 
c.1893-3958_1893-3935dupATTTATTTATTTATTTATTTATTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36771219
chr21:36771249 T
T
 A
A
 15 a0001c0001t0002g0165
a0001c0001t0009g0201
a0001c0001t0009g0202
others(12): Show 
a0001c0001t0002g0165
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0018g0189
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0028g0192
a0001c0001t0037g0083
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0086g0044
a0001c0001t0090g0005
a0001c0004t0072g0248
a0001c0015t0052g0239
a0002c0002t0018g0153
 15 HG01256.hp2
HG01258.hp2
HG01515.hp2
others(12): Show 
HG01256.hp2
HG01258.hp2
HG01515.hp2
HG01952.hp2
HG01978.hp1
HG02083.hp1
HG03139.hp1
HG03471.hp2
HG03492.hp2
HG03710.hp2
HG03927.hp2
HG04204.hp2
NA18522.hp2
NA18961.hp2
NA19004.hp1
 intron_variant MODIFIER c.1893-3964A>T
c.1893-3964A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36771249
chr21:36771274 C
C
 T
T
 1 a0001c0001t0013g0223
a0001c0001t0013g0223
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.1893-3989G>A
c.1893-3989G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36771274
chr21:36771306 C
C
 T
T
 12 a0001c0001t0002g0165
a0001c0001t0009g0201
a0001c0001t0009g0202
others(9): Show 
a0001c0001t0002g0165
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0028g0192
a0001c0001t0037g0083
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0086g0044
a0001c0001t0090g0005
a0001c0015t0052g0239
 12 HG01256.hp2
HG01258.hp2
HG01515.hp2
others(9): Show 
HG01256.hp2
HG01258.hp2
HG01515.hp2
HG01978.hp1
HG02083.hp1
HG03139.hp1
HG03492.hp2
HG03710.hp2
HG03927.hp2
HG04204.hp2
NA18961.hp2
NA19004.hp1
 intron_variant MODIFIER c.1893-4021G>A
c.1893-4021G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36771306
chr21:36771502 A
A
 G
G
 1 a0001c0001t0037g0254
a0001c0001t0037g0254
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.1893-4217T>C
c.1893-4217T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36771502
chr21:36771665 C
C
 G
G
 1 a0001c0001t0028g0167
a0001c0001t0028g0167
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.1893-4380G>C
c.1893-4380G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36771665
chr21:36771680 G
G
 C
C
 1 a0001c0001t0001g0062
a0001c0001t0001g0062
 1 HG01975.hp2
HG01975.hp2
 intron_variant MODIFIER c.1893-4395C>G
c.1893-4395C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36771680
chr21:36771748 C
C
 T
T
 180 a0001c0001t0001g0006
a0001c0001t0001g0041
a0001c0001t0001g0071
others(177): Show 
a0001c0001t0001g0006
a0001c0001t0001g0041
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0174
a0001c0001t0002g0193
a0001c0001t0002g0238
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0135
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0054g0217
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0008t0008g0001
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0007c0014t0070g0131
a0009c0009t0012g0196
 180 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(177): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00639.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18939.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18944.hp1
NA18945.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp1
NA18984.hp1
NA18993.hp2
NA19004.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp2
NA19074.hp2
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-4463G>A
c.1893-4463G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36771748
chr21:36771765 G
G
 A
A
 4 a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0013g0231
others(1): Show 
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0013g0231
a0002c0002t0027g0157
 4 HG02080.hp1
HG02135.hp2
NA19009.hp2
others(1): Show 
HG02080.hp1
HG02135.hp2
NA19009.hp2
NA19084.hp1
 intron_variant MODIFIER c.1893-4480C>T
c.1893-4480C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36771765
chr21:36771774 A
A
 G
G
 80 a0001c0001t0002g0165
a0001c0001t0002g0193
a0001c0001t0003g0184
others(77): Show 
a0001c0001t0002g0165
a0001c0001t0002g0193
a0001c0001t0003g0184
a0001c0001t0003g0228
a0001c0001t0004g0009
a0001c0001t0004g0138
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0006g0096
a0001c0001t0006g0127
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0013g0223
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0091
a0001c0001t0018g0189
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0021g0076
a0001c0001t0022g0187
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0033g0104
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0059g0180
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0093g0133
a0001c0001t0107g0050
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0007c0014t0070g0131
a0009c0009t0012g0196
 80 HG00639.hp1
HG00673.hp1
HG00735.hp1
others(77): Show 
HG00639.hp1
HG00673.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01071.hp1
HG01099.hp2
HG01106.hp2
HG01175.hp1
HG01175.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01433.hp2
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01952.hp2
HG01978.hp1
HG02083.hp1
HG02109.hp2
HG02145.hp1
HG02280.hp1
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03710.hp2
HG03927.hp2
HG04204.hp2
NA18522.hp2
NA18940.hp2
NA18942.hp1
NA18944.hp1
NA18950.hp2
NA18961.hp2
NA18967.hp1
NA18993.hp2
NA19004.hp1
NA19030.hp1
NA19043.hp2
NA19068.hp2
NA19240.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-4489T>C
c.1893-4489T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36771774
chr21:36771931 G
G
 A
A
 10 a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
others(7): Show 
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0009c0009t0012g0196
 10 HG00735.hp1
HG01891.hp1
HG02145.hp1
others(7): Show 
HG00735.hp1
HG01891.hp1
HG02145.hp1
HG02647.hp1
HG02647.hp2
HG02818.hp1
HG02896.hp1
HG02897.hp2
HG03195.hp2
NA19043.hp2
 intron_variant MODIFIER c.1893-4646C>T
c.1893-4646C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36771931
chr21:36771982 T
T
 C
C
 1 a0001c0003t0007g0221
a0001c0003t0007g0221
 1 HG01168.hp1
HG01168.hp1
 intron_variant MODIFIER c.1893-4697A>G
c.1893-4697A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36771982
chr21:36771996 C
C
 CA
CA
 21 a0001c0001t0002g0165
a0001c0001t0005g0115
a0001c0001t0009g0201
others(18): Show 
a0001c0001t0002g0165
a0001c0001t0005g0115
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0229
a0001c0001t0011g0022
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0021g0076
a0001c0001t0028g0192
a0001c0001t0037g0083
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0086g0044
a0001c0001t0090g0005
a0001c0015t0052g0239
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0007c0014t0070g0131
 21 HG00741.hp1
HG01175.hp2
HG01256.hp2
others(18): Show 
HG00741.hp1
HG01175.hp2
HG01256.hp2
HG01258.hp2
HG01433.hp2
HG01515.hp2
HG01978.hp1
HG02083.hp1
HG03139.hp1
HG03492.hp2
HG03540.hp2
HG03579.hp1
HG03710.hp2
HG03927.hp2
HG04115.hp2
HG04204.hp2
NA18961.hp2
NA18967.hp1
NA18977.hp1
NA19004.hp1
NA20129.hp1
 intron_variant MODIFIER c.1893-4712dupT
c.1893-4712dupT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36771996
chr21:36772038 A
A
 T
T
 133 a0001c0001t0001g0006
a0001c0001t0001g0041
a0001c0001t0001g0071
others(130): Show 
a0001c0001t0001g0006
a0001c0001t0001g0041
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0174
a0001c0001t0002g0193
a0001c0001t0002g0238
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0135
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0106
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0140
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0051g0168
a0001c0001t0056g0198
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0089g0099
a0001c0001t0091g0042
a0001c0001t0094g0031
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0054g0217
a0001c0003t0111g0137
a0001c0007t0007g0200
a0001c0008t0008g0001
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0007c0014t0070g0131
 133 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(130): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00639.hp1
HG00673.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp2
HG01975.hp1
HG01981.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02145.hp2
HG02257.hp2
HG02280.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG04115.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18612.hp1
NA18939.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18944.hp1
NA18945.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18967.hp1
NA18967.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp1
NA18984.hp1
NA18993.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19068.hp2
NA19074.hp2
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-4753T>A
c.1893-4753T>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36772038
chr21:36772107 C
C
 A
A
 1 a0001c0001t0028g0167
a0001c0001t0028g0167
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.1893-4822G>T
c.1893-4822G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36772107
chr21:36772305 C
C
 T
T
 1 a0001c0001t0018g0176
a0001c0001t0018g0176
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.1893-5020G>A
c.1893-5020G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36772305
chr21:36772420 T
T
 G
G
 12 a0001c0001t0002g0165
a0001c0001t0009g0201
a0001c0001t0009g0202
others(9): Show 
a0001c0001t0002g0165
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0028g0192
a0001c0001t0037g0083
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0086g0044
a0001c0001t0090g0005
a0001c0015t0052g0239
 12 HG01256.hp2
HG01258.hp2
HG01515.hp2
others(9): Show 
HG01256.hp2
HG01258.hp2
HG01515.hp2
HG01978.hp1
HG02083.hp1
HG03139.hp1
HG03492.hp2
HG03710.hp2
HG03927.hp2
HG04204.hp2
NA18961.hp2
NA19004.hp1
 intron_variant MODIFIER c.1893-5135A>C
c.1893-5135A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36772420
chr21:36772439 G
G
 C
C
 125 a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
others(122): Show 
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0128
a0001c0001t0002g0165
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0244
a0001c0001t0004g0032
a0001c0001t0005g0003
a0001c0001t0005g0086
a0001c0001t0005g0115
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0227
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0213
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0013g0231
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0016g0098
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0021g0129
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0036g0123
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0057g0225
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0090g0005
a0001c0001t0093g0133
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0110g0023
a0001c0003t0007g0210
a0001c0003t0050g0206
a0001c0003t0060g0203
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0041g0148
a0002c0002t0062g0145
a0004c0019t0112g0258
a0006c0016t0001g0116
a0008c0012t0035g0069
a0009c0009t0012g0196
 125 HG00438.hp1
HG00438.hp2
HG00639.hp1
others(122): Show 
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp1
HG01070.hp2
HG01071.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01891.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02976.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03710.hp2
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp2
NA18939.hp2
NA18940.hp1
NA18942.hp2
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp1
NA19088.hp1
NA19240.hp2
NA20805.hp1
 intron_variant MODIFIER c.1893-5154C>G
c.1893-5154C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36772439
chr21:36772623 A
A
 T
T
 3 a0001c0001t0051g0168
a0001c0001t0066g0059
a0002c0002t0041g0148
a0001c0001t0051g0168
a0001c0001t0066g0059
a0002c0002t0041g0148
 3 HG00639.hp1
HG01106.hp2
HG03130.hp1
HG00639.hp1
HG01106.hp2
HG03130.hp1
 intron_variant MODIFIER c.1893-5338T>A
c.1893-5338T>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36772623
chr21:36772638 C
C
 CA
CA
 25 a0001c0001t0003g0228
a0001c0001t0004g0009
a0001c0001t0005g0056
others(22): Show 
a0001c0001t0003g0228
a0001c0001t0004g0009
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0006g0096
a0001c0001t0006g0125
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0016g0091
a0001c0001t0021g0076
a0001c0001t0022g0187
a0001c0001t0032g0111
a0001c0001t0051g0168
a0001c0001t0059g0180
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0084g0075
a0001c0001t0089g0099
a0001c0001t0093g0133
a0001c0001t0100g0073
a0001c0013t0022g0177
a0002c0002t0041g0148
a0002c0002t0048g0144
a0005c0011t0033g0139
 25 HG00280.hp1
HG00639.hp1
HG00673.hp1
others(22): Show 
HG00280.hp1
HG00639.hp1
HG00673.hp1
HG01070.hp1
HG01071.hp1
HG01099.hp2
HG01106.hp2
HG01123.hp1
HG01256.hp1
HG01433.hp2
HG01884.hp1
HG02145.hp2
HG02809.hp2
HG02895.hp1
HG02896.hp2
HG02976.hp2
HG03130.hp1
HG03516.hp2
NA18940.hp2
NA18942.hp1
NA18944.hp1
NA18950.hp2
NA18967.hp1
NA18993.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-5354dupT
c.1893-5354dupT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36772638
chr21:36772638 C
C
 CAA
CAA
 8 a0001c0001t0006g0127
a0001c0001t0033g0104
a0001c0001t0037g0083
others(5): Show 
a0001c0001t0006g0127
a0001c0001t0033g0104
a0001c0001t0037g0083
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0007c0014t0070g0131
 8 HG00741.hp1
HG01175.hp2
HG01515.hp2
others(5): Show 
HG00741.hp1
HG01175.hp2
HG01515.hp2
HG02897.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
NA20129.hp1
 intron_variant MODIFIER c.1893-5355_1893-535
others(6): Show 
c.1893-5355_1893-5354dupTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36772638
chr21:36772638 C
C
 CAAA
CAAA
 12 a0001c0001t0002g0165
a0001c0001t0004g0138
a0001c0001t0009g0201
others(9): Show 
a0001c0001t0002g0165
a0001c0001t0004g0138
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0028g0192
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0086g0044
a0001c0001t0090g0005
a0001c0015t0052g0239
 12 HG01175.hp1
HG01256.hp2
HG01258.hp2
others(9): Show 
HG01175.hp1
HG01256.hp2
HG01258.hp2
HG01978.hp1
HG02083.hp1
HG03139.hp1
HG03492.hp2
HG03710.hp2
HG03927.hp2
HG04204.hp2
NA18961.hp2
NA19004.hp1
 intron_variant MODIFIER c.1893-5356_1893-535
others(7): Show 
c.1893-5356_1893-5354dupTTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36772638
chr21:36772638 CA
CA
 C
C
 97 a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
others(94): Show 
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0128
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0237
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0244
a0001c0001t0004g0032
a0001c0001t0005g0003
a0001c0001t0005g0086
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0256
a0001c0001t0007g0227
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0010g0213
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0013g0231
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0016g0098
a0001c0001t0018g0176
a0001c0001t0021g0129
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0036g0123
a0001c0001t0049g0233
a0001c0001t0057g0225
a0001c0001t0065g0252
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0110g0023
a0001c0003t0007g0210
a0001c0003t0050g0206
a0001c0003t0060g0203
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0012g0207
a0001c0010t0011g0020
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0062g0145
a0004c0019t0112g0258
a0006c0016t0001g0116
a0008c0012t0035g0069
a0009c0009t0012g0196
 97 HG00438.hp2
HG00639.hp2
HG00673.hp2
others(94): Show 
HG00438.hp2
HG00639.hp2
HG00673.hp2
HG00738.hp1
HG01070.hp2
HG01071.hp2
HG01099.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01496.hp2
HG01515.hp1
HG01891.hp1
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp1
HG02897.hp2
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG06807.hp1
NA18612.hp1
NA18612.hp2
NA18939.hp2
NA18940.hp1
NA18942.hp2
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA19004.hp2
NA19009.hp1
NA19043.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp1
NA19088.hp1
NA19240.hp2
NA20805.hp1
 intron_variant MODIFIER c.1893-5354delT
c.1893-5354delT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36772638
chr21:36772979 C
C
 CA
CA
 85 a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
others(82): Show 
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0120
a0001c0001t0001g0128
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0244
a0001c0001t0004g0032
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0086
a0001c0001t0005g0115
a0001c0001t0006g0012
a0001c0001t0006g0029
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0016g0047
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0021g0129
a0001c0001t0036g0123
a0001c0001t0049g0233
a0001c0001t0057g0225
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0085g0110
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0091g0042
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0098g0035
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0110g0023
a0001c0003t0007g0210
a0001c0003t0050g0206
a0001c0003t0060g0203
a0001c0007t0012g0207
a0001c0010t0011g0020
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0027g0157
a0002c0002t0062g0145
a0004c0019t0112g0258
a0006c0016t0001g0116
 85 HG00438.hp1
HG00438.hp2
HG00639.hp2
others(82): Show 
HG00438.hp1
HG00438.hp2
HG00639.hp2
HG00673.hp2
HG00738.hp1
HG01070.hp2
HG01071.hp2
HG01099.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01255.hp2
HG01257.hp1
HG01346.hp2
HG01496.hp2
HG01515.hp1
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02083.hp2
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02257.hp1
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02683.hp2
HG03209.hp2
HG03239.hp2
HG03490.hp1
HG03492.hp1
HG03710.hp1
HG03831.hp1
HG03831.hp2
HG04115.hp2
HG06807.hp2
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA19004.hp2
NA19009.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp1
NA19088.hp1
NA20805.hp1
 intron_variant MODIFIER c.1893-5695dupT
c.1893-5695dupT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36772979
chr21:36772979 C
C
 CAA
CAA
 15 a0001c0001t0006g0019
a0001c0001t0006g0132
a0001c0001t0006g0256
others(12): Show 
a0001c0001t0006g0019
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0010g0213
a0001c0001t0018g0176
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0071g0089
a0001c0001t0073g0246
a0002c0002t0025g0146
a0002c0002t0025g0149
 15 HG01257.hp2
HG01258.hp1
HG02280.hp2
others(12): Show 
HG01257.hp2
HG01258.hp1
HG02280.hp2
HG02559.hp1
HG02717.hp1
HG02723.hp2
HG02886.hp2
HG02976.hp1
HG03098.hp2
HG03130.hp2
HG03225.hp2
HG03516.hp1
HG06807.hp1
NA19009.hp1
NA19240.hp2
 intron_variant MODIFIER c.1893-5696_1893-569
others(6): Show 
c.1893-5696_1893-5695dupTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36772979
chr21:36772979 CA
CA
 C
C
 13 a0001c0001t0002g0165
a0001c0001t0006g0085
a0001c0001t0009g0201
others(10): Show 
a0001c0001t0002g0165
a0001c0001t0006g0085
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0028g0192
a0001c0001t0037g0083
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0086g0044
a0001c0001t0090g0005
a0001c0015t0052g0239
 13 HG01256.hp2
HG01258.hp2
HG01515.hp2
others(10): Show 
HG01256.hp2
HG01258.hp2
HG01515.hp2
HG01978.hp1
HG02083.hp1
HG03139.hp1
HG03492.hp2
HG03710.hp2
HG03927.hp2
HG04204.hp2
NA18612.hp1
NA18961.hp2
NA19004.hp1
 intron_variant MODIFIER c.1893-5695delT
c.1893-5695delT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36772979
chr21:36773256 G
G
 A
A
 1 a0001c0001t0019g0101
a0001c0001t0019g0101
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.1893-5971C>T
c.1893-5971C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36773256
chr21:36773317 T
T
 C
C
 1 a0001c0001t0001g0120
a0001c0001t0001g0120
 1 HG02083.hp2
HG02083.hp2
 intron_variant MODIFIER c.1893-6032A>G
c.1893-6032A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36773317
chr21:36773568 C
C
 T
T
 1 a0001c0001t0019g0101
a0001c0001t0019g0101
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.1893-6283G>A
c.1893-6283G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36773568
chr21:36773657 C
C
 G
G
 5 a0001c0001t0022g0187
a0001c0001t0037g0254
a0001c0001t0069g0255
others(2): Show 
a0001c0001t0022g0187
a0001c0001t0037g0254
a0001c0001t0069g0255
a0001c0001t0093g0133
a0001c0013t0022g0177
 5 HG01099.hp2
HG01884.hp1
HG02109.hp2
others(2): Show 
HG01099.hp2
HG01884.hp1
HG02109.hp2
HG02809.hp2
HG02896.hp2
 intron_variant MODIFIER c.1893-6372G>C
c.1893-6372G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36773657
chr21:36774336 C
C
 T
T
 87 a0001c0001t0001g0006
a0001c0001t0001g0041
a0001c0001t0001g0071
others(84): Show 
a0001c0001t0001g0006
a0001c0001t0001g0041
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0174
a0001c0001t0002g0238
a0001c0001t0003g0175
a0001c0001t0003g0226
a0001c0001t0003g0230
a0001c0001t0004g0007
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0113
a0001c0001t0005g0135
a0001c0001t0006g0085
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0249
a0001c0001t0012g0234
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0016g0047
a0001c0001t0016g0106
a0001c0001t0019g0061
a0001c0001t0020g0121
a0001c0001t0021g0130
a0001c0001t0030g0048
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0140
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0061g0163
a0001c0001t0065g0252
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0091g0042
a0001c0001t0094g0031
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0054g0217
a0001c0003t0111g0137
a0001c0007t0007g0200
a0001c0008t0008g0001
a0001c0018t0004g0060
a0002c0002t0013g0147
a0002c0002t0040g0242
a0002c0002t0045g0151
a0005c0011t0033g0139
 87 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(84): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00735.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp2
HG01975.hp1
HG01981.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02145.hp2
HG02257.hp2
HG02486.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp1
HG03490.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG04115.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18612.hp1
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18945.hp2
NA18950.hp1
NA18951.hp2
NA18967.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp1
NA18984.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19074.hp2
NA19084.hp2
NA19088.hp2
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.1893-7051G>A
c.1893-7051G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36774336
chr21:36774427 G
G
 A
A
 1 a0002c0002t0048g0144
a0002c0002t0048g0144
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.1893-7142C>T
c.1893-7142C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36774427
chr21:36774529 C
C
 T
T
 135 a0001c0001t0001g0006
a0001c0001t0001g0041
a0001c0001t0001g0071
others(132): Show 
a0001c0001t0001g0006
a0001c0001t0001g0041
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0174
a0001c0001t0002g0193
a0001c0001t0002g0238
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0135
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0106
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0140
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0051g0168
a0001c0001t0056g0198
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0089g0099
a0001c0001t0091g0042
a0001c0001t0094g0031
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0054g0217
a0001c0003t0111g0137
a0001c0007t0007g0200
a0001c0008t0008g0001
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0007c0014t0070g0131
 135 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(132): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00639.hp1
HG00673.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp2
HG01975.hp1
HG01981.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02145.hp2
HG02257.hp2
HG02280.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG04115.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18612.hp1
NA18939.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18944.hp1
NA18945.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18967.hp1
NA18967.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp1
NA18984.hp1
NA18993.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19068.hp2
NA19074.hp2
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-7244G>A
c.1893-7244G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36774529
chr21:36774672 C
C
 T
T
 5 a0001c0001t0001g0128
a0001c0001t0002g0172
a0001c0001t0002g0183
others(2): Show 
a0001c0001t0001g0128
a0001c0001t0002g0172
a0001c0001t0002g0183
a0001c0001t0014g0181
a0001c0001t0014g0182
 5 HG01070.hp2
HG01071.hp2
HG01168.hp2
others(2): Show 
HG01070.hp2
HG01071.hp2
HG01168.hp2
HG01169.hp1
HG02300.hp2
 intron_variant MODIFIER c.1893-7387G>A
c.1893-7387G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36774672
chr21:36774814 G
G
 T
T
 42 a0001c0001t0002g0193
a0001c0001t0003g0184
a0001c0001t0003g0228
others(39): Show 
a0001c0001t0002g0193
a0001c0001t0003g0184
a0001c0001t0003g0228
a0001c0001t0004g0009
a0001c0001t0004g0138
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0006g0096
a0001c0001t0006g0127
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0013g0223
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0091
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0021g0076
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0257
a0001c0001t0033g0104
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0059g0180
a0001c0001t0063g0208
a0001c0001t0084g0075
a0001c0001t0089g0099
a0001c0001t0107g0050
a0001c0017t0108g0082
a0002c0002t0015g0142
a0002c0002t0048g0144
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0007c0014t0070g0131
 42 HG00673.hp1
HG00741.hp1
HG01070.hp1
others(39): Show 
HG00673.hp1
HG00741.hp1
HG01070.hp1
HG01071.hp1
HG01175.hp1
HG01175.hp2
HG01256.hp1
HG01433.hp2
HG02280.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG03041.hp1
HG03098.hp1
HG03195.hp1
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
NA18940.hp2
NA18942.hp1
NA18944.hp1
NA18950.hp2
NA18967.hp1
NA18993.hp2
NA19030.hp1
NA19068.hp2
NA19240.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-7529C>A
c.1893-7529C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36774814
chr21:36775192 C
C
 G
G
 2 a0001c0001t0003g0230
a0001c0001t0008g0018
a0001c0001t0003g0230
a0001c0001t0008g0018
 2 HG03239.hp1
HG04228.hp2
HG03239.hp1
HG04228.hp2
 intron_variant MODIFIER c.1893-7907G>C
c.1893-7907G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36775192
chr21:36775301 G
G
 T
T
 86 a0001c0001t0001g0006
a0001c0001t0001g0041
a0001c0001t0001g0071
others(83): Show 
a0001c0001t0001g0006
a0001c0001t0001g0041
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0174
a0001c0001t0002g0238
a0001c0001t0003g0175
a0001c0001t0003g0226
a0001c0001t0003g0230
a0001c0001t0004g0007
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0113
a0001c0001t0005g0135
a0001c0001t0006g0085
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0249
a0001c0001t0012g0234
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0016g0047
a0001c0001t0016g0106
a0001c0001t0019g0061
a0001c0001t0020g0121
a0001c0001t0021g0130
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0140
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0061g0163
a0001c0001t0065g0252
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0091g0042
a0001c0001t0094g0031
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0054g0217
a0001c0003t0111g0137
a0001c0007t0007g0200
a0001c0008t0008g0001
a0001c0018t0004g0060
a0002c0002t0013g0147
a0002c0002t0040g0242
a0002c0002t0045g0151
a0005c0011t0033g0139
 86 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(83): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00735.hp2
HG00738.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp2
HG01975.hp1
HG01981.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02145.hp2
HG02257.hp2
HG02486.hp1
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp2
HG03139.hp2
HG03239.hp1
HG03490.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG04115.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18612.hp1
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18945.hp2
NA18950.hp1
NA18951.hp2
NA18967.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp1
NA18984.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19074.hp2
NA19084.hp2
NA19088.hp2
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.1893-8016C>A
c.1893-8016C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36775301
chr21:36775480 C
C
 T
T
 4 a0001c0001t0018g0189
a0001c0001t0037g0254
a0001c0004t0072g0248
others(1): Show 
a0001c0001t0018g0189
a0001c0001t0037g0254
a0001c0004t0072g0248
a0002c0002t0018g0153
 4 HG01952.hp2
HG02109.hp2
HG03471.hp2
others(1): Show 
HG01952.hp2
HG02109.hp2
HG03471.hp2
NA18522.hp2
 intron_variant MODIFIER c.1893-8195G>A
c.1893-8195G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36775480
chr21:36775623 C
C
 T
T
 1 a0001c0003t0060g0203
a0001c0003t0060g0203
 1 NA18947.hp2
NA18947.hp2
 intron_variant MODIFIER c.1893-8338G>A
c.1893-8338G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36775623
chr21:36775638 G
G
 A
A
 2 a0001c0001t0028g0167
a0001c0001t0044g0161
a0001c0001t0028g0167
a0001c0001t0044g0161
 2 HG02486.hp2
HG03225.hp1
HG02486.hp2
HG03225.hp1
 intron_variant MODIFIER c.1893-8353C>T
c.1893-8353C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36775638
chr21:36775655 T
T
 C
C
 257 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(254): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 257 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(254): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-8370A>G
c.1893-8370A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36775655
chr21:36775661 C
C
 A
A
 257 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(254): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 257 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(254): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-8376G>T
c.1893-8376G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36775661
chr21:36775667 T
T
 C
C
 257 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(254): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 257 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(254): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-8382A>G
c.1893-8382A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36775667
chr21:36775678 T
T
 G
G
 257 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(254): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 257 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(254): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-8393A>C
c.1893-8393A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36775678
chr21:36775700 AT
AT
 A
A
 257 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(254): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 257 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(254): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-8416delA
c.1893-8416delA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36775700
chr21:36775703 T
T
 C
C
 257 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(254): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 257 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(254): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-8418A>G
c.1893-8418A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36775703
chr21:36775709 C
C
 A
A
 1 a0001c0001t0019g0101
a0001c0001t0019g0101
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.1893-8424G>T
c.1893-8424G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36775709
chr21:36775730 T
T
 C
C
 257 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(254): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 257 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(254): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-8445A>G
c.1893-8445A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36775730
chr21:36775804 C
C
 T
T
 12 a0001c0001t0002g0165
a0001c0001t0009g0201
a0001c0001t0009g0202
others(9): Show 
a0001c0001t0002g0165
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0028g0192
a0001c0001t0037g0083
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0086g0044
a0001c0001t0090g0005
a0001c0015t0052g0239
 12 HG01256.hp2
HG01258.hp2
HG01515.hp2
others(9): Show 
HG01256.hp2
HG01258.hp2
HG01515.hp2
HG01978.hp1
HG02083.hp1
HG03139.hp1
HG03492.hp2
HG03710.hp2
HG03927.hp2
HG04204.hp2
NA18961.hp2
NA19004.hp1
 intron_variant MODIFIER c.1893-8519G>A
c.1893-8519G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36775804
chr21:36775855 T
T
 C
C
 257 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(254): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 257 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(254): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-8570A>G
c.1893-8570A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36775855
chr21:36775856 G
G
 A
A
 3 a0001c0001t0051g0168
a0001c0001t0066g0059
a0002c0002t0041g0148
a0001c0001t0051g0168
a0001c0001t0066g0059
a0002c0002t0041g0148
 3 HG00639.hp1
HG01106.hp2
HG03130.hp1
HG00639.hp1
HG01106.hp2
HG03130.hp1
 intron_variant MODIFIER c.1893-8571C>T
c.1893-8571C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36775856
chr21:36776100 C
C
 A
A
 3 a0001c0001t0051g0168
a0001c0001t0066g0059
a0002c0002t0041g0148
a0001c0001t0051g0168
a0001c0001t0066g0059
a0002c0002t0041g0148
 3 HG00639.hp1
HG01106.hp2
HG03130.hp1
HG00639.hp1
HG01106.hp2
HG03130.hp1
 intron_variant MODIFIER c.1893-8815G>T
c.1893-8815G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36776100
chr21:36776417 C
C
 CT
CT
 252 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(249): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 252 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(249): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-9133dupA
c.1893-9133dupA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36776417
chr21:36776832 C
C
 T
T
 48 a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0010g0213
others(45): Show 
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0044g0161
a0001c0001t0051g0168
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0093g0133
a0001c0001t0107g0050
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0013t0022g0177
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0041g0148
a0002c0002t0062g0145
a0009c0009t0012g0196
 48 HG00639.hp1
HG00735.hp1
HG01099.hp2
others(45): Show 
HG00639.hp1
HG00735.hp1
HG01099.hp2
HG01106.hp2
HG01257.hp2
HG01258.hp1
HG01884.hp1
HG01891.hp1
HG01952.hp2
HG02109.hp2
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03516.hp1
HG06807.hp1
NA18522.hp2
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.1893-9547G>A
c.1893-9547G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36776832
chr21:36776909 C
C
 A
A
 4 a0001c0001t0018g0189
a0001c0001t0037g0254
a0001c0004t0072g0248
others(1): Show 
a0001c0001t0018g0189
a0001c0001t0037g0254
a0001c0004t0072g0248
a0002c0002t0018g0153
 4 HG01952.hp2
HG02109.hp2
HG03471.hp2
others(1): Show 
HG01952.hp2
HG02109.hp2
HG03471.hp2
NA18522.hp2
 intron_variant MODIFIER c.1893-9624G>T
c.1893-9624G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36776909
chr21:36776932 T
T
 C
C
 5 a0001c0001t0022g0187
a0001c0001t0069g0255
a0001c0001t0093g0133
others(2): Show 
a0001c0001t0022g0187
a0001c0001t0069g0255
a0001c0001t0093g0133
a0001c0004t0042g0209
a0001c0013t0022g0177
 5 HG00735.hp1
HG01099.hp2
HG01884.hp1
others(2): Show 
HG00735.hp1
HG01099.hp2
HG01884.hp1
HG02809.hp2
HG02896.hp2
 intron_variant MODIFIER c.1893-9647A>G
c.1893-9647A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36776932
chr21:36777089 C
C
 T
T
 169 a0001c0001t0001g0006
a0001c0001t0001g0041
a0001c0001t0001g0071
others(166): Show 
a0001c0001t0001g0006
a0001c0001t0001g0041
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0174
a0001c0001t0002g0193
a0001c0001t0002g0238
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0135
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0140
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0051g0168
a0001c0001t0056g0198
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0089g0099
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0054g0217
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0008t0008g0001
a0001c0013t0022g0177
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0007c0014t0070g0131
a0009c0009t0012g0196
 169 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(166): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00639.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp2
HG01975.hp1
HG01981.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG04115.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18939.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18944.hp1
NA18945.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18967.hp1
NA18967.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp1
NA18984.hp1
NA18993.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp2
NA19074.hp2
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-9804G>A
c.1893-9804G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36777089
chr21:36777261 TC
TC
 T
T
 3 a0001c0001t0051g0168
a0001c0001t0066g0059
a0002c0002t0041g0148
a0001c0001t0051g0168
a0001c0001t0066g0059
a0002c0002t0041g0148
 3 HG00639.hp1
HG01106.hp2
HG03130.hp1
HG00639.hp1
HG01106.hp2
HG03130.hp1
 intron_variant MODIFIER c.1893-9977delG
c.1893-9977delG
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36777261
chr21:36777266 G
G
 A
A
 121 a0001c0001t0001g0006
a0001c0001t0001g0041
a0001c0001t0001g0071
others(118): Show 
a0001c0001t0001g0006
a0001c0001t0001g0041
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0174
a0001c0001t0002g0193
a0001c0001t0002g0238
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0135
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0106
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0130
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0140
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0065g0252
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0089g0099
a0001c0001t0091g0042
a0001c0001t0094g0031
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0054g0217
a0001c0003t0111g0137
a0001c0007t0007g0200
a0001c0008t0008g0001
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0013g0147
a0002c0002t0040g0242
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0007c0014t0070g0131
 121 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(118): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp2
HG01975.hp1
HG01981.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02145.hp2
HG02257.hp2
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03471.hp1
HG03490.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG04115.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18612.hp1
NA18939.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18944.hp1
NA18945.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18967.hp1
NA18967.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp1
NA18984.hp1
NA18993.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19068.hp2
NA19074.hp2
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-9981C>T
c.1893-9981C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36777266
chr21:36777350 T
T
 C
C
 25 a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0010g0213
others(22): Show 
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0018g0176
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0063g0208
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0107g0050
a0002c0002t0015g0142
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0062g0145
 25 HG01257.hp2
HG01258.hp1
HG02280.hp1
others(22): Show 
HG01257.hp2
HG01258.hp1
HG02280.hp1
HG02280.hp2
HG02559.hp1
HG02572.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03098.hp2
HG03130.hp2
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03516.hp1
HG06807.hp1
NA19240.hp2
 intron_variant MODIFIER c.1893-10065A>G
c.1893-10065A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36777350
chr21:36777368 A
A
 G
G
 1 a0001c0003t0003g0199
a0001c0003t0003g0199
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.1893-10083T>C
c.1893-10083T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36777368
chr21:36777384 C
C
 T
T
 1 a0001c0001t0006g0012
a0001c0001t0006g0012
 1 NA19074.hp1
NA19074.hp1
 intron_variant MODIFIER c.1893-10099G>A
c.1893-10099G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36777384
chr21:36777398 G
G
 A
A
 12 a0001c0001t0002g0165
a0001c0001t0009g0201
a0001c0001t0009g0202
others(9): Show 
a0001c0001t0002g0165
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0028g0192
a0001c0001t0037g0083
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0086g0044
a0001c0001t0090g0005
a0001c0015t0052g0239
 12 HG01256.hp2
HG01258.hp2
HG01515.hp2
others(9): Show 
HG01256.hp2
HG01258.hp2
HG01515.hp2
HG01978.hp1
HG02083.hp1
HG03139.hp1
HG03492.hp2
HG03710.hp2
HG03927.hp2
HG04204.hp2
NA18961.hp2
NA19004.hp1
 intron_variant MODIFIER c.1893-10113C>T
c.1893-10113C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36777398
chr21:36777426 C
C
 T
T
 1 a0001c0001t0044g0161
a0001c0001t0044g0161
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.1893-10141G>A
c.1893-10141G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36777426
chr21:36777475 A
A
 G
G
 1 a0002c0002t0045g0151
a0002c0002t0045g0151
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.1893-10190T>C
c.1893-10190T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36777475
chr21:36777557 G
G
 A
A
 5 a0001c0001t0001g0071
a0001c0001t0005g0021
a0001c0001t0035g0097
others(2): Show 
a0001c0001t0001g0071
a0001c0001t0005g0021
a0001c0001t0035g0097
a0001c0001t0082g0112
a0001c0001t0083g0013
 5 HG01081.hp2
HG01361.hp1
HG01981.hp1
others(2): Show 
HG01081.hp2
HG01361.hp1
HG01981.hp1
NA18950.hp1
NA19074.hp2
 intron_variant MODIFIER c.1893-10272C>T
c.1893-10272C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36777557
chr21:36777573 C
C
 T
T
 1 a0001c0001t0019g0101
a0001c0001t0019g0101
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.1893-10288G>A
c.1893-10288G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36777573
chr21:36777673 T
T
 C
C
 1 a0001c0001t0019g0101
a0001c0001t0019g0101
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.1893-10388A>G
c.1893-10388A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36777673
chr21:36777679 T
T
 C
C
 5 a0001c0001t0022g0187
a0001c0001t0069g0255
a0001c0001t0093g0133
others(2): Show 
a0001c0001t0022g0187
a0001c0001t0069g0255
a0001c0001t0093g0133
a0001c0004t0042g0209
a0001c0013t0022g0177
 5 HG00735.hp1
HG01099.hp2
HG01884.hp1
others(2): Show 
HG00735.hp1
HG01099.hp2
HG01884.hp1
HG02809.hp2
HG02896.hp2
 intron_variant MODIFIER c.1893-10394A>G
c.1893-10394A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36777679
chr21:36777724 G
G
 A
A
 9 a0001c0001t0001g0092
a0001c0001t0003g0226
a0001c0001t0005g0004
others(6): Show 
a0001c0001t0001g0092
a0001c0001t0003g0226
a0001c0001t0005g0004
a0001c0001t0005g0113
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0076g0090
a0001c0001t0094g0031
a0001c0003t0003g0204
 9 HG02080.hp2
NA18941.hp1
NA18941.hp2
others(6): Show 
HG02080.hp2
NA18941.hp1
NA18941.hp2
NA18970.hp2
NA18971.hp2
NA18984.hp1
NA19057.hp2
NA19084.hp2
NA19088.hp2
 intron_variant MODIFIER c.1893-10439C>T
c.1893-10439C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36777724
chr21:36777766 G
G
 A
A
 73 a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
others(70): Show 
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0128
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0244
a0001c0001t0004g0032
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0115
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0007g0227
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0013g0231
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0016g0098
a0001c0001t0021g0129
a0001c0001t0049g0233
a0001c0001t0057g0225
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0085g0110
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0101g0008
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0110g0023
a0001c0003t0007g0210
a0001c0003t0050g0206
a0001c0007t0012g0207
a0001c0010t0011g0020
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0027g0157
a0004c0019t0112g0258
a0006c0016t0001g0116
a0008c0012t0035g0069
 73 HG00438.hp1
HG00438.hp2
HG00639.hp2
others(70): Show 
HG00438.hp1
HG00438.hp2
HG00639.hp2
HG00673.hp2
HG00738.hp1
HG01070.hp2
HG01071.hp2
HG01099.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01255.hp2
HG01257.hp1
HG01346.hp2
HG01496.hp2
HG01515.hp1
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02129.hp2
HG02135.hp2
HG02257.hp1
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02683.hp2
HG03239.hp2
HG03490.hp1
HG03492.hp1
HG04115.hp2
HG06807.hp2
NA18612.hp2
NA18939.hp2
NA18940.hp1
NA18942.hp1
NA18942.hp2
NA18944.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp1
NA19088.hp1
NA20805.hp1
 intron_variant MODIFIER c.1893-10481C>T
c.1893-10481C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36777766
chr21:36777985 T
T
 C
C
 3 a0001c0001t0028g0167
a0001c0001t0044g0161
a0001c0001t0085g0110
a0001c0001t0028g0167
a0001c0001t0044g0161
a0001c0001t0085g0110
 3 HG02486.hp2
HG03225.hp1
HG06807.hp2
HG02486.hp2
HG03225.hp1
HG06807.hp2
 intron_variant MODIFIER c.1893-10700A>G
c.1893-10700A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36777985
chr21:36778094 A
A
 G
G
 1 a0001c0001t0028g0167
a0001c0001t0028g0167
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.1893-10809T>C
c.1893-10809T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36778094
chr21:36778157 G
G
 C
C
 2 a0001c0001t0001g0040
a0001c0001t0095g0117
a0001c0001t0001g0040
a0001c0001t0095g0117
 2 HG01496.hp2
HG01952.hp1
HG01496.hp2
HG01952.hp1
 intron_variant MODIFIER c.1893-10872C>G
c.1893-10872C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36778157
chr21:36778158 A
A
 G
G
 1 a0001c0001t0019g0101
a0001c0001t0019g0101
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.1893-10873T>C
c.1893-10873T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36778158
chr21:36778171 A
A
 G
G
 3 a0001c0001t0019g0101
a0003c0005t0002g0195
a0003c0005t0027g0218
a0001c0001t0019g0101
a0003c0005t0002g0195
a0003c0005t0027g0218
 3 HG03579.hp1
NA19030.hp1
NA20129.hp1
HG03579.hp1
NA19030.hp1
NA20129.hp1
 intron_variant MODIFIER c.1893-10886T>C
c.1893-10886T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36778171
chr21:36778183 A
A
 C
C
 1 a0001c0001t0103g0100
a0001c0001t0103g0100
 1 HG00438.hp2
HG00438.hp2
 intron_variant MODIFIER c.1893-10898T>G
c.1893-10898T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36778183
chr21:36778190 T
T
 C
C
 11 a0001c0001t0001g0011
a0001c0001t0003g0166
a0001c0001t0019g0061
others(8): Show 
a0001c0001t0001g0011
a0001c0001t0003g0166
a0001c0001t0019g0061
a0001c0001t0019g0247
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0067g0067
a0001c0004t0068g0088
a0009c0009t0012g0196
 11 HG01109.hp1
HG01891.hp1
HG02523.hp1
others(8): Show 
HG01109.hp1
HG01891.hp1
HG02523.hp1
HG02647.hp1
HG02647.hp2
HG02818.hp1
HG02896.hp1
HG02897.hp2
HG03195.hp2
NA19004.hp2
NA19240.hp1
 intron_variant MODIFIER c.1893-10905A>G
c.1893-10905A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36778190
chr21:36778314 C
C
 G
G
 1 a0001c0001t0030g0257
a0001c0001t0030g0257
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.1893-11029G>C
c.1893-11029G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36778314
chr21:36778526 G
G
 A
A
 1 a0001c0001t0110g0023
a0001c0001t0110g0023
 1 NA18968.hp1
NA18968.hp1
 intron_variant MODIFIER c.1893-11241C>T
c.1893-11241C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36778526
chr21:36778692 C
C
 T
T
 1 a0001c0001t0019g0101
a0001c0001t0019g0101
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.1893-11407G>A
c.1893-11407G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36778692
chr21:36778843 G
G
 A
A
 11 a0001c0001t0002g0165
a0001c0001t0009g0201
a0001c0001t0009g0202
others(8): Show 
a0001c0001t0002g0165
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0020g0034
a0001c0001t0028g0192
a0001c0001t0037g0083
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0086g0044
a0001c0001t0090g0005
a0001c0015t0052g0239
 11 HG01256.hp2
HG01258.hp2
HG01515.hp2
others(8): Show 
HG01256.hp2
HG01258.hp2
HG01515.hp2
HG01978.hp1
HG02083.hp1
HG03139.hp1
HG03492.hp2
HG03710.hp2
HG03927.hp2
HG04204.hp2
NA18961.hp2
 intron_variant MODIFIER c.1893-11558C>T
c.1893-11558C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36778843
chr21:36778865 A
A
 T
T
 1 a0001c0001t0065g0252
a0001c0001t0065g0252
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.1893-11580T>A
c.1893-11580T>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36778865
chr21:36778953 A
A
 T
T
 2 a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0009g0235
a0001c0001t0009g0236
 2 HG01255.hp1
HG01361.hp2
HG01255.hp1
HG01361.hp2
 intron_variant MODIFIER c.1893-11668T>A
c.1893-11668T>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36778953
chr21:36778971 GGTTCCTT
others(6501): Show 
GGTTCCTTTTGGTGAAAAACGGTCTTTTAAAAAAACTGGGGCTAAGAAAG
AGATAGAAAATGTGTGCATGTGTGTCTAGGGTGTATATATGCATTACAAT
TGTCCCTTGGTATTCATGGAGGATTTGTTCCAGACTGCCTCCCAAGTCCC
ACAGTGAGCTCTGTGGAACCTGAGTACACAAAAAATTGGCCTCCATATAC
ATGGGTTTCACATCCCATGAATAATCTGCTTTGGTTGAAAAAATTCCATG
TGTAGTAGACCCCTGCAGTTCATACCCCTGATGAATCAAAGGTCAACTGT
ATTTCCTTCCGTCCATCCATCCCTCCCTCCTTCCTTCCTTCCCTCCTTCC
TTCTTTCTTTCTTCCTTCCTCTAGATTCTCATCTTCTTTCTCTATCTAAT
CTATCCATCTACCACCCATCCATCCATCCAGTTTGAAAACCATAAGTTCA
TCATAAACTCCAATCCAATCCAATACCACAAGGTTCATTCTAGCCCCTCC
TTTTCTATATTCATAAATTCTTTCTCCAATAGTGGGAAATCTGGCTTGCA
TTATCTACACTATTTATTCATTTGCTCAATGCCATAATACACAGGGGGAA
GTGGTCTCAGCAGTGCTGATCCATATTACTGCGAAATCACACTTACTAAC
TAGAGTTCAATATTTGTTTACAGTTTTTTTTGCCCTTAGCCTGAGGGTAT
AGATTCAAATATTGTATTGAACATTTCCTTGGATTTGTTCTTTTTTTTTT
CCCCTTTACTTTAGTGTGGTTATTTTATTTGTCTGAAATCAGGTTAGGTT
TAACTGTACTTCTATATTACATTTTACCCCCACACCCAAACCCCACCAAT
CCTTCTTTCTTTTTCATTGTTTAACCTGGTTCAGAGTCGGAACTGTACAC
AGACAAGTATACTCCGAGAAGTGTCACACTCCCCTACCCATTCCTTCTAC
CTAGGTCTCCCACTCCACCTCCTTTCTGTAAACCACAAATCAAAATCTCA
TTCATTTCTGGTTTATTCTTCCTGTGTTCCTTTTTGCACAAATGAATGGA
TACATGCATATTTTCTTATTTCCTTGTCTTCCTTACAGAAAGTTACCATT
TTGTAGATGCTCTTTTGTCTCCCCCATCCACCTACCCCACACAATTAATA
TACCCGGGAACCACTAGGTTGCATACTCCTTATGAGAATCTAAGGCCTGA
TGATCTGAGGTGGAGCTGAGGCGGTGTTGCTAGTGCTGGGGAGCAGCTGC
AAATAAGTTCATAGAGCTTTTCCTCATTTTTTCTTTTTTTCAGACGGAGT
CTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCCCAGGTTCACA
CCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAACTACAGGTGCCCACC
ACCACGCCTGGCTTTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCA
TGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTCA
GCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGCACCCGGCTCCT
CATTTCTTCTTAAAGCTGAGCAGACTCCATTCTGTGGATGTAGCACAGCC
TCTTCAACCACTCTTTTATGTATAGGCATTTAGGTAGTTCCTAAAAGGAC
AGTATAATGAACACTCTTATTCGCATGGATTTTTATATTGCTGGAGGTAT
ATCTTCAGGGTAAATTGCTGGAAGTGGGATGCTGAGCCAGAAGGTAAACA
CACTGGTAGCTTTATCAGATTCTGCCAGAACCCCCACTACTGCACACAGC
CGCGCAGAGATACCTGTTTCCCTACAGCCTAACCAATGGACAGTGGCGTG
TGTCTGTGCATGTGCGTGTGTATACACAGTCAATGACCAGTTAATGTCTT
TTGAGTTAACTCAAAAGTTAAGAGTTTCTTATATATTAGGGCAGAGTCCC
CAGCTCTGCCCCACCCCCCCACCCCCCAGGCTGCACAGCAGGAGGTGAGA
AGCAGGCAGGCAGGTGAGTAAGAAAGCTAGAAAAGCTTCCTCTGTATTTA
CAGCCGCTCCCCACAGCTCACGTTACCACCTGAGCTCCACTTCCTGTCAG
ATCAGCGGCAGCATTAGATTCTCATAGGAGCCCTACTGTGAACTGCGCAT
GCAAGGGATCTAGGTTGCATACTCCTTATGAGAATCTAAGGCCTGATGAT
CTGAGGTGGAGCTGAGGCGGAGGTTGCAGTGAGCTGAGATCATGCCATTG
CACTCCAGCCTAGACAACAGGAGCGTGAAACTCTGTCTCAAAAAAAAAAA
AAAAAAAGCCTTGATGGTATTTTTAGTCTAAGTGCATTAAATGTATAAAT
TAACTTGGGGAGAACTGACCATCTTTGTGATTTTGAGTTGTCCTACCTAT
GAGCAAAGGATGACTTACATTTGTTCAAATATACTTTTGTGTCTTTCAGA
TTGTTTTAAAGTGATCTTGTGTTGATTGTGCATATTTCTTATGCACTATC
TTACGTATTTTATCTTATTTGTTGCTATTATGAATATATCCCATAATTTC
CTTTAACTAGTTATTGCTTGTTGTATATAAAAACTATTGATTTCTGTATA
ATAATTTTATATCCTGCTCTATTACTGAATTCTCTTATTGTTTGAGTTAG
AGAATCACTGATTCTTTAAGGTTTCTCATTTCCTCTGCAAACAGATAGTT
TTACTTCTTTTTCAATGATACCTTTAATTGACTTCTCTTGTCTGTTTGGA
TTGGCTAATACCTTTAGTACAATGCCAAACAGAGGTGGAGACAGTGGGCC
TCCTTGCCATGTTTCTTAGTGTTTCCCTGCTATATAAGATGCTATCTAGG
ACTCACAGACACTTACAAGTCAGTAAATTATCCACTAAGTCCTATTTTTG
GAATTTTTAAAAATCAGGACAGGGTGTTGAATTTTATAAAGTGTTTTCTC
AGTATCTATGGAAATAATCATACATTTTTCTTTTTTGATCTATTAACATA
TTAATGAGTTAAGAGATCTATTAATTTTTTTAATATTAAACCAATCTTGC
ATTCCTAGAAAAAAAAATCACATTTGTCTTAATGTTAGATTCTGTTAGTT
AATATTTATTTAGAATTTCTGCATTGATGCTCATTAGTGATACTGGCCTG
TAATTTTTATACTGTCTTTAACAGATTTAAGTATCAATATTATTTACTTC
ATTGAAATGAATTTGAAAATTTTCCTTCATTTTTGATGAGCCCATCCTTT
TTCCACTGAAGTACTCCTTCTGAGGAAGACTAAAAAAAAATTTCTGCCAA
TGATCCTGTAGGAAAATTCCAAAAGAAACCTTTTTGATTTCTTCTTGAAA
TAGCTTTCAGAACTCCTGTTCTCAATCAAATATCTTTGCACCTACAGGTC
TATGTGAGGTACTTGCAGCACATGGGTAGTAAGACAATGAGTTTATATTA
ATGTGGACTACATTTAAGAATCTACATATAAGAACCTTAACTGAGGCTTT
ACCTTAATACTCCAGACAAACAGGCTGGAGACCTGACCTCCTTAAGAGGT
CTGGACCAGTTCTGGTAGAGATCAGCCCAGAATGACCAGGCCTCTGAACA
TTCCACAAAACGTGTTCCATGGAGAGGGTGTAGAGGAGAATAGGGAGCAT
TACCGAACAGCAAAGGAAAACACTTTAAGACTCTCCTCAACCATTTCCAT
TAAAATTTCAGAAACAGGCCAGGTGCAGTGGCTCATGCCTGTAATCCCAG
CACTTTTGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGA
CCAACGTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACTACTAA
AATACTACTAAAAATTAGCTGAGCATAGTGGCAGGCACCTGTAGTCCTAG
ATACTCACGAGGCTGAGGCACAAGAATCACTTGAACTTGGGAGGCAGAGA
CTGCCGAGATCACACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTC
TGTCTCCGAAAAAAACCAAAACCAAAACAAAGAAAACCTCCAGAAACAGA
TGAGAACATATTTAGATGTTTTGTATTGTATTAATACTTTTTGCTCAATT
TTAACAAATGCCTCAGTCTTTGCTAGGAGCTACCCACCTCAACAAGCATG
GGTTCCTGGCCATACCATCAAGGTCACAGAGGCAAAGCTGCCTCCAGAGC
TAGGCTCTCAAACAATGCTGCCCATCAGAATCGCCTGCAGTTTTAAAACA
CAAAGCAAAAACAAACTGATGCTAAGACCCCAGATACCCTCTGAATCCCA
ACCTCCAGAGCCAGAGCTTGGGTGTGTCCCAGATGATTAGAATGCAGCTG
GTCCAAAGACTGGGGTTCTAAAACCACTGTTCCCAAAGCTATTTTTCAAT
GACTTTTTTAAAACTACATTTCTTTTAAAAAATTTCCAGAGCTACAACAT
CAAAGAGGCAGTAATTCTCTTCTGGTTCCTTCAATGATTGAAATGAAGCA
TCGCATTATTTTGATATTTACTAGGACGGCACAACAACAGTCCCACAGAT
GGAGAGATTTCATTTTCTAGAGCCAGAGGGTGGTAGGTAGTCGAGGAAAA
GGAAAAAGGGGAAAGGAACAAAGAACTGGCATTCGGACACAAAGTGTGCA
CCACAAAGTGCCATTACGTGCAAGACAGCCACTTAGTGTGTCTGAATCCC
TGTTGGTGTTCTGTCTCCCTACAGTGGCTTCATTCGCGATCACCAGATGT
CAGGTCTGCCAGATGTCGTTTTTAGCACCATGAAGCATAGCAAGGGCTGG
TGTCTCGCACACACACAAGCATGTGTGCACATGCACACACACACATGCAC
ATACACACACACACATACATGCACAAATCCACACACACACACACTTGATT
GCCACCTCAATATGGCAGGCTTCCAACAGTGAGCACACCAGCCAACATGG
CACCATCTTTCCACTCACTGTAAGATTTCTCCAAGGTCTTATAAATGAAT
GAATGAACGGGCCATGGGGAAGGGGTATCTTCAGCTATAGATCTCAAGAT
TCTACACTGCAAGCAAGCCAGTGGTTCCTTTGACTGAGCACCCATCCACA
TGCTGGGCCCTTGGTATGAGCCATGTTCTCATTTAAATGTCCCAGTGACT
CTCAAGACATCATCATTGCCAAGTAGTCTCATTTTACTGCTGATAAGTGG
AAGCTACACCGCAGAAGTGGCCTGGTGAGATCAGAGAACAGTCAACCAGG
TTTGCCTGGCTCAGAGGCCCATCTTCTGACTCACTAGGAAAGAATCTTTT
GCTTTTATCAAAACAGAATTTCAAGGTAGAAATACCACCTCTTTTTTTTT
TTTTTTTTTTTAATGAGACAGAGTCTTGCTCTTCACCCAGCCTGGAGTGC
AGCGGCACTATCTCAGCTCACTGAACCCTCTACCTCCCAGGTTCGAGCAA
TTCTCGTGCCTCAGCCACCTAAGTAGCTGGGACTACAGGCATGTGCCACC
ATGCTTGGCTAATTTTTGTATTTTTAGTAGAGATCGGGTTTTGCCATGTT
GGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCAGC
TTCCGAAAGTGCTAGGATTACAGGCGTGAGCCACCATGCCCGGCCGGCCA
GCCTCTTAAAATGCATTTGTGTAAGTTTAACAGTCCTGGAGGCTATAAGG
CTTTCTAGAAAGATCTGGAAATTGACTTCCAAATAATAACATCAAAATGG
GGTTCTTGCTTTATCTTTTTTTCTGAGAACTGAAACAGAGTCACCTTACA
TTTTCTAAAAGTAAATACTACCAGCTTGGTGGCCAAGTTCATCAGTTCTG
TGCTATGTGTCTGAACAGTTATTTTCCCAGCTCTGTACGTATTCTGCTTC
AAATACTTCATTTTCCCTTATGAAATTTACATAAATTATAATACTAATAA
GAAGTTTCTTTACCTACAGAGTGAAGGGGCATCTGAAACACCTGGGCAAA
CAAAGGAACCTGAAGGTAACGAATTCCTTCCTACAGAAGGGCAGCTCCAC
CCGGCCACTTGGGCCCTTGATTTTACCCCAGGTACCGTCGCCTTCGGGGT
AATGACAAGGAAGAATGCCCTGCCCTGCCAGCTGGCCTGAAAACCAGTGT
GCCTTTCACCACCCTGACGCCCTGTGTGTCACCTTCCTCTTTCCCTCTCT
CGGCTCCCACCTCTCTTCAGAGCCTTCCCTGCACCCCGCCCTGCCAGAGA
TCAACCAACACGCCAGAGCTCGTTTGCCGGGATGCTTAGCACCAGCTTAA
CTCTTCACTCAGTGGGACAAGGGGCCTCTTTCTTTCAGGCAGGGCTTTGC
TCCATGACACGCTGGGTTTATGGCCCCCGTGAACGAAACCTGGTTCGGAA
TCCAATTCTACAACAGATTTTCGTTCAAATGGTTATTTTCCATCCCTTGC
CCCCAATTCCATTTTCTACCCATCTCTCCCGGCTCTCTGCCTGTGGGGGC
TGACCCCTT
 G
G
 1 a0001c0001t0019g0247
a0001c0001t0019g0247
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.1893-18194_1893-11
others(6): Show 
c.1893-18194_1893-11687del
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36778971
chr21:36779009 G
G
 C
C
 5 a0001c0001t0001g0041
a0001c0001t0007g0194
a0001c0001t0008g0078
others(2): Show 
a0001c0001t0001g0041
a0001c0001t0007g0194
a0001c0001t0008g0078
a0001c0001t0081g0016
a0001c0008t0008g0001
 5 HG01433.hp1
HG03704.hp1
HG03831.hp2
others(2): Show 
HG01433.hp1
HG03704.hp1
HG03831.hp2
HG03927.hp1
HG04228.hp1
 intron_variant MODIFIER c.1893-11724C>G
c.1893-11724C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36779009
chr21:36779159 G
G
 GC
GC
 256 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(253): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 256 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(253): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-11875dupG
c.1893-11875dupG
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36779159
chr21:36779320 CTTCT
CTTCT
 C
C
 2 a0001c0001t0044g0161
a0002c0002t0045g0151
a0001c0001t0044g0161
a0002c0002t0045g0151
 2 HG02486.hp2
NA18522.hp1
HG02486.hp2
NA18522.hp1
 intron_variant MODIFIER c.1893-12039_1893-12
others(10): Show 
c.1893-12039_1893-12036delAGAA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36779320
chr21:36779360 C
C
 A
A
 1 a0001c0001t0016g0106
a0001c0001t0016g0106
 1 NA18945.hp2
NA18945.hp2
 intron_variant MODIFIER c.1893-12075G>T
c.1893-12075G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36779360
chr21:36779590 T
T
 C
C
 147 a0001c0001t0001g0006
a0001c0001t0001g0041
a0001c0001t0001g0071
others(144): Show 
a0001c0001t0001g0006
a0001c0001t0001g0041
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0174
a0001c0001t0002g0193
a0001c0001t0002g0238
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0135
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0130
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0192
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0047g0188
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0065g0252
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0094g0031
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0012g0205
a0001c0003t0054g0217
a0001c0003t0111g0137
a0001c0004t0072g0248
a0001c0007t0007g0200
a0001c0008t0008g0001
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0040g0242
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0007c0014t0070g0131
 147 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(144): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp2
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02145.hp2
HG02257.hp2
HG02280.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18939.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18944.hp1
NA18945.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp1
NA18984.hp1
NA18993.hp2
NA19004.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19068.hp2
NA19074.hp2
NA19084.hp2
NA19088.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-12305A>G
c.1893-12305A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36779590
chr21:36779621 T
T
 G
G
 1 a0001c0001t0014g0159
a0001c0001t0014g0159
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.1893-12336A>C
c.1893-12336A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36779621
chr21:36779625 G
G
 A
A
 1 a0001c0001t0106g0253
a0001c0001t0106g0253
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.1893-12340C>T
c.1893-12340C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36779625
chr21:36779640 A
A
 G
G
 4 a0001c0001t0028g0167
a0001c0001t0085g0110
a0001c0006t0023g0212
others(1): Show 
a0001c0001t0028g0167
a0001c0001t0085g0110
a0001c0006t0023g0212
a0001c0006t0023g0222
 4 HG02145.hp1
HG03225.hp1
HG06807.hp2
others(1): Show 
HG02145.hp1
HG03225.hp1
HG06807.hp2
NA19043.hp2
 intron_variant MODIFIER c.1893-12355T>C
c.1893-12355T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36779640
chr21:36779710 CT
CT
 C
C
 165 a0001c0001t0001g0006
a0001c0001t0001g0041
a0001c0001t0001g0071
others(162): Show 
a0001c0001t0001g0006
a0001c0001t0001g0041
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0174
a0001c0001t0002g0193
a0001c0001t0002g0238
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0135
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0020g0002
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0140
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0051g0168
a0001c0001t0056g0198
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0089g0099
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0012g0205
a0001c0003t0054g0217
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0008t0008g0001
a0001c0013t0022g0177
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0007c0014t0070g0131
a0009c0009t0012g0196
 165 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(162): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00639.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01975.hp1
HG01981.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG04115.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18939.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18944.hp1
NA18945.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18967.hp1
NA18967.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp1
NA18984.hp1
NA18993.hp2
NA19004.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp2
NA19074.hp2
NA19084.hp2
NA19088.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-12426delA
c.1893-12426delA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36779710
chr21:36779891 G
G
 A
A
 1 a0001c0001t0005g0115
a0001c0001t0005g0115
 1 HG04115.hp2
HG04115.hp2
 intron_variant MODIFIER c.1893-12606C>T
c.1893-12606C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36779891
chr21:36779902 C
C
 T
T
 47 a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0010g0213
others(44): Show 
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0018g0176
a0001c0001t0019g0101
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0051g0168
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0085g0110
a0001c0001t0093g0133
a0001c0001t0107g0050
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0013t0022g0177
a0002c0002t0015g0142
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0041g0148
a0002c0002t0062g0145
a0009c0009t0012g0196
 47 HG00639.hp1
HG00735.hp1
HG01099.hp2
others(44): Show 
HG00639.hp1
HG00735.hp1
HG01099.hp2
HG01106.hp2
HG01257.hp2
HG01258.hp1
HG01884.hp1
HG01891.hp1
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03516.hp1
HG06807.hp1
HG06807.hp2
NA19030.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.1893-12617G>A
c.1893-12617G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36779902
chr21:36780009 C
C
 T
T
 117 a0001c0001t0001g0006
a0001c0001t0001g0041
a0001c0001t0001g0071
others(114): Show 
a0001c0001t0001g0006
a0001c0001t0001g0041
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0174
a0001c0001t0002g0193
a0001c0001t0002g0238
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0135
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0106
a0001c0001t0019g0061
a0001c0001t0020g0002
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0130
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0140
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0056g0198
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0065g0252
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0089g0099
a0001c0001t0091g0042
a0001c0001t0094g0031
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0012g0205
a0001c0003t0054g0217
a0001c0003t0111g0137
a0001c0007t0007g0200
a0001c0008t0008g0001
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0013g0147
a0002c0002t0040g0242
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0007c0014t0070g0131
 117 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(114): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp2
HG01975.hp1
HG01981.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02145.hp2
HG02257.hp2
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03471.hp1
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG04115.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18612.hp1
NA18939.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18944.hp1
NA18945.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18967.hp1
NA18967.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp1
NA18984.hp1
NA18993.hp2
NA19004.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19068.hp2
NA19074.hp2
NA19084.hp2
NA19088.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-12724G>A
c.1893-12724G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36780009
chr21:36780092 C
C
 A
A
 3 a0001c0001t0085g0110
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0001t0085g0110
a0001c0006t0023g0212
a0001c0006t0023g0222
 3 HG02145.hp1
HG06807.hp2
NA19043.hp2
HG02145.hp1
HG06807.hp2
NA19043.hp2
 intron_variant MODIFIER c.1893-12807G>T
c.1893-12807G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36780092
chr21:36780094 C
C
 A
A
 14 a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
others(11): Show 
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0051g0168
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0107g0050
a0002c0002t0015g0142
a0002c0002t0041g0148
a0002c0002t0062g0145
 14 HG00639.hp1
HG01106.hp2
HG02280.hp1
others(11): Show 
HG00639.hp1
HG01106.hp2
HG02280.hp1
HG02572.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp1
HG03130.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
 intron_variant MODIFIER c.1893-12809G>T
c.1893-12809G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36780094
chr21:36780211 G
G
 A
A
 2 a0001c0001t0006g0085
a0001c0001t0020g0121
a0001c0001t0006g0085
a0001c0001t0020g0121
 2 NA18612.hp1
NA19057.hp1
NA18612.hp1
NA19057.hp1
 intron_variant MODIFIER c.1893-12926C>T
c.1893-12926C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36780211
chr21:36780232 T
T
 C
C
 117 a0001c0001t0001g0006
a0001c0001t0001g0041
a0001c0001t0001g0071
others(114): Show 
a0001c0001t0001g0006
a0001c0001t0001g0041
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0174
a0001c0001t0002g0193
a0001c0001t0002g0238
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0135
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0106
a0001c0001t0019g0061
a0001c0001t0020g0002
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0130
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0140
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0056g0198
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0065g0252
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0089g0099
a0001c0001t0091g0042
a0001c0001t0094g0031
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0012g0205
a0001c0003t0054g0217
a0001c0003t0111g0137
a0001c0007t0007g0200
a0001c0008t0008g0001
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0013g0147
a0002c0002t0040g0242
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0007c0014t0070g0131
 117 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(114): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp2
HG01975.hp1
HG01981.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02145.hp2
HG02257.hp2
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03471.hp1
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG04115.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18612.hp1
NA18939.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18944.hp1
NA18945.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18967.hp1
NA18967.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp1
NA18984.hp1
NA18993.hp2
NA19004.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19068.hp2
NA19074.hp2
NA19084.hp2
NA19088.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-12947A>G
c.1893-12947A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36780232
chr21:36780304 G
G
 A
A
 1 a0001c0006t0023g0212
a0001c0006t0023g0212
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.1893-13019C>T
c.1893-13019C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36780304
chr21:36780454 G
G
 A
A
 14 a0001c0001t0002g0165
a0001c0001t0009g0201
a0001c0001t0009g0202
others(11): Show 
a0001c0001t0002g0165
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0018g0189
a0001c0001t0020g0034
a0001c0001t0028g0192
a0001c0001t0037g0083
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0086g0044
a0001c0001t0090g0005
a0001c0004t0072g0248
a0002c0002t0018g0153
a0002c0002t0048g0144
 14 HG01256.hp2
HG01258.hp2
HG01515.hp2
others(11): Show 
HG01256.hp2
HG01258.hp2
HG01515.hp2
HG01952.hp2
HG01978.hp1
HG02083.hp1
HG03139.hp1
HG03471.hp2
HG03492.hp2
HG03516.hp2
HG03927.hp2
HG04204.hp2
NA18522.hp2
NA18961.hp2
 intron_variant MODIFIER c.1893-13169C>T
c.1893-13169C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36780454
chr21:36780461 G
G
 A
A
 12 a0001c0001t0022g0187
a0001c0001t0069g0255
a0001c0001t0093g0133
others(9): Show 
a0001c0001t0022g0187
a0001c0001t0069g0255
a0001c0001t0093g0133
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0013t0022g0177
a0009c0009t0012g0196
 12 HG00735.hp1
HG01099.hp2
HG01884.hp1
others(9): Show 
HG00735.hp1
HG01099.hp2
HG01884.hp1
HG01891.hp1
HG02647.hp1
HG02647.hp2
HG02809.hp2
HG02818.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG03195.hp2
 intron_variant MODIFIER c.1893-13176C>T
c.1893-13176C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36780461
chr21:36780513 C
C
 T
T
 1 a0001c0001t0028g0167
a0001c0001t0028g0167
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.1893-13228G>A
c.1893-13228G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36780513
chr21:36780514 G
G
 A
A
 2 a0001c0017t0108g0082
a0002c0002t0064g0243
a0001c0017t0108g0082
a0002c0002t0064g0243
 2 HG03041.hp1
HG03195.hp1
HG03041.hp1
HG03195.hp1
 intron_variant MODIFIER c.1893-13229C>T
c.1893-13229C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36780514
chr21:36780621 A
A
 G
G
 4 a0001c0001t0028g0167
a0001c0001t0085g0110
a0001c0006t0023g0212
others(1): Show 
a0001c0001t0028g0167
a0001c0001t0085g0110
a0001c0006t0023g0212
a0001c0006t0023g0222
 4 HG02145.hp1
HG03225.hp1
HG06807.hp2
others(1): Show 
HG02145.hp1
HG03225.hp1
HG06807.hp2
NA19043.hp2
 intron_variant MODIFIER c.1893-13336T>C
c.1893-13336T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36780621
chr21:36780772 G
G
 A
A
 121 a0001c0001t0001g0006
a0001c0001t0001g0041
a0001c0001t0001g0071
others(118): Show 
a0001c0001t0001g0006
a0001c0001t0001g0041
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0193
a0001c0001t0002g0238
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0135
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0106
a0001c0001t0019g0061
a0001c0001t0020g0002
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0130
a0001c0001t0028g0167
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0140
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0056g0198
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0065g0252
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0089g0099
a0001c0001t0091g0042
a0001c0001t0094g0031
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0012g0205
a0001c0003t0054g0217
a0001c0003t0111g0137
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0008t0008g0001
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0013g0147
a0002c0002t0040g0242
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0007c0014t0070g0131
 121 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(118): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp2
HG01975.hp1
HG01981.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03490.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG04115.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18939.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18944.hp1
NA18945.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18967.hp1
NA18967.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp1
NA18984.hp1
NA18993.hp2
NA19004.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp2
NA19074.hp2
NA19084.hp2
NA19088.hp2
NA20129.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-13487C>T
c.1893-13487C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36780772
chr21:36780836 G
G
 A
A
 16 a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0010g0213
others(13): Show 
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0010g0213
a0001c0001t0018g0176
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0071g0089
a0001c0001t0073g0246
a0002c0002t0025g0146
a0002c0002t0025g0149
 16 HG01257.hp2
HG01258.hp1
HG02280.hp2
others(13): Show 
HG01257.hp2
HG01258.hp1
HG02280.hp2
HG02486.hp2
HG02559.hp1
HG02717.hp1
HG02723.hp2
HG02886.hp2
HG02895.hp2
HG02976.hp1
HG03098.hp2
HG03130.hp2
HG03225.hp2
HG03516.hp1
HG06807.hp1
NA19240.hp2
 intron_variant MODIFIER c.1893-13551C>T
c.1893-13551C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36780836
chr21:36781042 G
G
 C
C
 16 a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0010g0213
others(13): Show 
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0010g0213
a0001c0001t0018g0176
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0071g0089
a0001c0001t0073g0246
a0002c0002t0025g0146
a0002c0002t0025g0149
 16 HG01257.hp2
HG01258.hp1
HG02280.hp2
others(13): Show 
HG01257.hp2
HG01258.hp1
HG02280.hp2
HG02486.hp2
HG02559.hp1
HG02717.hp1
HG02723.hp2
HG02886.hp2
HG02895.hp2
HG02976.hp1
HG03098.hp2
HG03130.hp2
HG03225.hp2
HG03516.hp1
HG06807.hp1
NA19240.hp2
 intron_variant MODIFIER c.1893-13757C>G
c.1893-13757C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36781042
chr21:36781077 G
G
 A
A
 130 a0001c0001t0001g0006
a0001c0001t0001g0041
a0001c0001t0001g0071
others(127): Show 
a0001c0001t0001g0006
a0001c0001t0001g0041
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0174
a0001c0001t0002g0193
a0001c0001t0002g0238
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0135
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0012g0234
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0106
a0001c0001t0019g0061
a0001c0001t0020g0002
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0051g0168
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0084g0075
a0001c0001t0089g0099
a0001c0001t0091g0042
a0001c0001t0094g0031
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0102g0063
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0054g0217
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0007t0007g0200
a0001c0008t0008g0001
a0001c0018t0004g0060
a0002c0002t0002g0154
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0045g0151
a0002c0002t0062g0145
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0007c0014t0070g0131
a0009c0009t0012g0196
 130 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(127): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00639.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01975.hp1
HG01981.hp1
HG01981.hp2
HG02027.hp2
HG02080.hp2
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp2
HG02257.hp2
HG02280.hp1
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp2
HG03130.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03490.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG04115.hp1
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18612.hp1
NA18939.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18944.hp1
NA18945.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18967.hp1
NA18967.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp1
NA18984.hp1
NA18993.hp2
NA19004.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19068.hp2
NA19074.hp2
NA19084.hp2
NA19088.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-13792C>T
c.1893-13792C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36781077
chr21:36781116 C
C
 T
T
 1 a0001c0001t0028g0192
a0001c0001t0028g0192
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.1893-13831G>A
c.1893-13831G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36781116
chr21:36781246 T
T
 C
C
 192 a0001c0001t0001g0006
a0001c0001t0001g0027
a0001c0001t0001g0036
others(189): Show 
a0001c0001t0001g0006
a0001c0001t0001g0027
a0001c0001t0001g0036
a0001c0001t0001g0043
a0001c0001t0001g0066
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0238
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0107
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0012g0205
a0001c0003t0054g0217
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0008t0008g0001
a0001c0013t0022g0177
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0007c0014t0070g0131
a0009c0009t0012g0196
 192 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(189): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00639.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp1
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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18977.hp1
NA18977.hp2
NA18984.hp1
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp2
NA19088.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-13961A>G
c.1893-13961A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36781246
chr21:36781259 C
C
 CA
CA
 13 a0001c0001t0001g0027
a0001c0001t0001g0072
a0001c0001t0002g0238
others(10): Show 
a0001c0001t0001g0027
a0001c0001t0001g0072
a0001c0001t0002g0238
a0001c0001t0007g0194
a0001c0001t0009g0178
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0036g0140
a0001c0001t0074g0087
a0001c0003t0007g0215
a0001c0003t0012g0205
a0002c0002t0018g0153
a0002c0002t0043g0152
 13 HG00280.hp2
HG00323.hp1
HG00735.hp2
others(10): Show 
HG00280.hp2
HG00323.hp1
HG00735.hp2
HG00741.hp2
HG01106.hp1
HG01123.hp2
HG01516.hp2
HG02615.hp2
HG03471.hp1
HG03831.hp2
NA18522.hp2
NA18948.hp1
NA20129.hp2
 intron_variant MODIFIER c.1893-13975dupT
c.1893-13975dupT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36781259
chr21:36781259 CA
CA
 C
C
 137 a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
others(134): Show 
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0028
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0062
a0001c0001t0001g0068
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0002g0165
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0009
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0005g0115
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0096
a0001c0001t0006g0127
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0065
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0011g0103
a0001c0001t0011g0118
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0018g0189
a0001c0001t0020g0034
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0022g0187
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0033g0104
a0001c0001t0036g0123
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0077g0039
a0001c0001t0080g0093
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0093g0133
a0001c0001t0095g0117
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0007g0210
a0001c0003t0007g0221
a0001c0003t0050g0206
a0001c0003t0060g0203
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0072g0248
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0003g0156
a0002c0002t0015g0142
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0092g0134
a0004c0019t0112g0258
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
 137 HG00438.hp1
HG00438.hp2
HG00639.hp1
others(134): Show 
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00738.hp1
HG00741.hp1
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01884.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01981.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02083.hp1
HG02109.hp2
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02257.hp1
HG02280.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02647.hp2
HG02683.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03710.hp2
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG04228.hp2
NA18612.hp2
NA18940.hp1
NA18940.hp2
NA18942.hp1
NA18944.hp1
NA18945.hp1
NA18947.hp1
NA18947.hp2
NA18948.hp2
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18975.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp2
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19068.hp1
NA19068.hp2
NA19084.hp1
NA19088.hp1
NA19088.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-13975delT
c.1893-13975delT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36781259
chr21:36781312 T
T
 C
C
 1 a0001c0001t0019g0061
a0001c0001t0019g0061
 1 HG01109.hp1
HG01109.hp1
 intron_variant MODIFIER c.1893-14027A>G
c.1893-14027A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36781312
chr21:36781474 C
C
 T
T
 1 a0001c0001t0085g0110
a0001c0001t0085g0110
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.1893-14189G>A
c.1893-14189G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36781474
chr21:36781674 C
C
 T
T
 61 a0001c0001t0001g0072
a0001c0001t0001g0128
a0001c0001t0002g0172
others(58): Show 
a0001c0001t0001g0072
a0001c0001t0001g0128
a0001c0001t0002g0172
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0238
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0009
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0127
a0001c0001t0008g0018
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0011g0107
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0018g0189
a0001c0001t0019g0101
a0001c0001t0020g0002
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0059g0180
a0001c0001t0078g0108
a0001c0001t0084g0075
a0001c0001t0089g0099
a0001c0001t0107g0050
a0001c0003t0007g0215
a0001c0003t0012g0205
a0001c0003t0054g0217
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0010t0011g0020
a0002c0002t0002g0154
a0002c0002t0046g0150
a0003c0005t0092g0134
a0004c0019t0112g0258
a0007c0014t0070g0131
 61 HG00280.hp2
HG00323.hp1
HG00738.hp2
others(58): Show 
HG00280.hp2
HG00323.hp1
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01361.hp2
HG01433.hp2
HG01515.hp2
HG01516.hp2
HG01952.hp2
HG01981.hp2
HG02129.hp1
HG02145.hp1
HG02300.hp2
HG02572.hp1
HG02895.hp1
HG02897.hp1
HG03098.hp1
HG03239.hp1
HG03453.hp2
HG03471.hp2
HG03540.hp1
HG03579.hp2
HG04115.hp1
HG04204.hp1
HG04228.hp2
NA18612.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18950.hp2
NA18951.hp1
NA18952.hp2
NA18967.hp1
NA18970.hp1
NA18984.hp1
NA18993.hp2
NA19004.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp2
NA19057.hp1
NA19068.hp2
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-14389G>A
c.1893-14389G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36781674
chr21:36781750 C
C
 G
G
 50 a0001c0001t0001g0006
a0001c0001t0001g0120
a0001c0001t0002g0158
others(47): Show 
a0001c0001t0001g0006
a0001c0001t0001g0120
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0193
a0001c0001t0004g0007
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0052
a0001c0001t0005g0094
a0001c0001t0006g0132
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0249
a0001c0001t0013g0223
a0001c0001t0016g0047
a0001c0001t0020g0034
a0001c0001t0021g0130
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0051g0168
a0001c0001t0055g0185
a0001c0001t0061g0163
a0001c0001t0065g0252
a0001c0001t0075g0049
a0001c0001t0082g0112
a0001c0001t0091g0042
a0001c0001t0099g0124
a0001c0001t0101g0008
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0007g0215
a0001c0003t0012g0205
a0001c0003t0060g0203
a0001c0007t0007g0200
a0001c0018t0004g0060
a0002c0002t0002g0155
a0002c0002t0013g0147
a0003c0005t0002g0195
a0003c0005t0027g0218
a0007c0014t0070g0131
 50 HG00323.hp1
HG00738.hp1
HG00741.hp1
others(47): Show 
HG00323.hp1
HG00738.hp1
HG00741.hp1
HG01081.hp1
HG01106.hp1
HG01109.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01258.hp2
HG01516.hp1
HG01884.hp2
HG01981.hp1
HG02027.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02145.hp2
HG02257.hp2
HG02486.hp1
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02683.hp1
HG02922.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp2
HG03453.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03579.hp1
HG03669.hp2
HG03704.hp2
HG03710.hp1
HG04115.hp1
NA18940.hp2
NA18947.hp2
NA19030.hp2
NA19043.hp1
NA19074.hp2
NA20129.hp1
 intron_variant MODIFIER c.1893-14465G>C
c.1893-14465G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36781750
chr21:36781911 G
G
 T
T
 7 a0001c0001t0006g0256
a0001c0001t0018g0176
a0001c0001t0030g0048
others(4): Show 
a0001c0001t0006g0256
a0001c0001t0018g0176
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0013t0022g0177
a0002c0002t0018g0153
a0002c0002t0043g0152
 7 HG00741.hp2
HG02615.hp2
HG02886.hp2
others(4): Show 
HG00741.hp2
HG02615.hp2
HG02886.hp2
HG02896.hp2
HG03130.hp2
HG03471.hp1
NA18522.hp2
 intron_variant MODIFIER c.1893-14626C>A
c.1893-14626C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36781911
chr21:36781994 AT
AT
 A
A
 172 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(169): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0166
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0004g0007
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0052
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0194
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0009g0178
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0013g0231
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0101
a0001c0001t0020g0002
a0001c0001t0020g0121
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0192
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0254
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0057g0225
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0085g0110
a0001c0001t0087g0095
a0001c0001t0091g0042
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0067g0067
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0007c0014t0070g0131
a0008c0012t0035g0069
 172 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(169): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00438.hp1
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18939.hp2
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18945.hp1
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.1893-14710delA
c.1893-14710delA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36781994
chr21:36782086 T
T
 C
C
 1 a0002c0002t0046g0150
a0002c0002t0046g0150
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.1893-14801A>G
c.1893-14801A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36782086
chr21:36782120 G
G
 A
A
 27 a0001c0001t0002g0171
a0001c0001t0003g0173
a0001c0001t0007g0170
others(24): Show 
a0001c0001t0002g0171
a0001c0001t0003g0173
a0001c0001t0007g0170
a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0022g0187
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0038g0054
a0001c0001t0044g0161
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0069g0255
a0001c0001t0081g0016
a0001c0001t0086g0044
a0001c0001t0090g0005
a0001c0001t0093g0133
a0001c0003t0007g0221
a0001c0004t0004g0046
a0002c0002t0015g0142
a0003c0005t0002g0195
a0003c0005t0027g0218
 27 HG01099.hp2
HG01168.hp1
HG01496.hp1
others(24): Show 
HG01099.hp2
HG01168.hp1
HG01496.hp1
HG01884.hp1
HG02280.hp1
HG02486.hp2
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp1
HG03209.hp1
HG03453.hp1
HG03492.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03927.hp2
HG04204.hp2
NA18961.hp2
NA20129.hp1
 intron_variant MODIFIER c.1893-14835C>T
c.1893-14835C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36782120
chr21:36782144 G
G
 A
A
 27 a0001c0001t0002g0171
a0001c0001t0003g0173
a0001c0001t0007g0170
others(24): Show 
a0001c0001t0002g0171
a0001c0001t0003g0173
a0001c0001t0007g0170
a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0018g0189
a0001c0001t0022g0187
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0038g0054
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0069g0255
a0001c0001t0081g0016
a0001c0001t0086g0044
a0001c0001t0090g0005
a0001c0001t0093g0133
a0001c0003t0007g0221
a0001c0004t0004g0046
a0002c0002t0015g0142
a0003c0005t0002g0195
a0003c0005t0027g0218
 27 HG01099.hp2
HG01168.hp1
HG01496.hp1
others(24): Show 
HG01099.hp2
HG01168.hp1
HG01496.hp1
HG01884.hp1
HG01952.hp2
HG02280.hp1
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp1
HG03209.hp1
HG03453.hp1
HG03492.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03927.hp2
HG04204.hp2
NA18961.hp2
NA20129.hp1
 intron_variant MODIFIER c.1893-14859C>T
c.1893-14859C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36782144
chr21:36782174 G
G
 A
A
 253 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(250): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 253 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(250): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-14889C>T
c.1893-14889C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36782174
chr21:36782277 T
T
 C
C
 18 a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0010g0249
others(15): Show 
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0010g0249
a0001c0001t0030g0048
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0037g0254
a0001c0001t0038g0102
a0001c0001t0065g0252
a0001c0001t0075g0049
a0001c0001t0085g0110
a0001c0001t0099g0124
a0001c0001t0106g0253
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
a0002c0002t0048g0144
a0002c0002t0064g0243
 18 HG00741.hp2
HG01243.hp1
HG02109.hp1
others(15): Show 
HG00741.hp2
HG01243.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02486.hp1
HG02572.hp2
HG02622.hp2
HG02922.hp1
HG03041.hp1
HG03041.hp2
HG03195.hp1
HG03516.hp2
HG06807.hp2
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.1893-14992A>G
c.1893-14992A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36782277
chr21:36782396 G
G
 A
A
 6 a0001c0001t0001g0072
a0001c0001t0036g0140
a0001c0003t0007g0215
others(3): Show 
a0001c0001t0001g0072
a0001c0001t0036g0140
a0001c0003t0007g0215
a0001c0003t0012g0205
a0001c0007t0007g0200
a0001c0007t0012g0207
 6 HG00323.hp1
HG01106.hp1
HG01109.hp2
others(3): Show 
HG00323.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01516.hp2
HG02257.hp1
 intron_variant MODIFIER c.1893-15111C>T
c.1893-15111C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36782396
chr21:36782581 C
C
 G
G
 28 a0001c0001t0001g0027
a0001c0001t0001g0128
a0001c0001t0002g0158
others(25): Show 
a0001c0001t0001g0027
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0230
a0001c0001t0005g0052
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0013g0231
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0020g0002
a0001c0010t0011g0020
a0001c0015t0052g0239
a0001c0018t0004g0060
a0002c0002t0013g0147
 28 HG01070.hp2
HG01071.hp2
HG01168.hp2
others(25): Show 
HG01070.hp2
HG01071.hp2
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG01978.hp1
HG02080.hp1
HG02300.hp2
HG02615.hp1
HG02622.hp1
HG03139.hp2
HG03490.hp2
HG03669.hp2
HG03710.hp2
HG04115.hp2
HG04228.hp2
NA18944.hp1
NA18948.hp1
NA18951.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18993.hp2
NA19004.hp1
NA19009.hp2
NA19043.hp1
NA19068.hp2
NA19084.hp1
 intron_variant MODIFIER c.1893-15296G>C
c.1893-15296G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36782581
chr21:36782709 C
C
 T
T
 1 a0002c0002t0046g0150
a0002c0002t0046g0150
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.1893-15424G>A
c.1893-15424G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36782709
chr21:36782807 AAAAATAC
others(4): Show 
AAAAATACTACT
 A
A
 33 a0001c0001t0001g0122
a0001c0001t0002g0174
a0001c0001t0002g0238
others(30): Show 
a0001c0001t0001g0122
a0001c0001t0002g0174
a0001c0001t0002g0238
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0244
a0001c0001t0005g0021
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0006g0132
a0001c0001t0007g0227
a0001c0001t0008g0084
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0013g0223
a0001c0001t0016g0106
a0001c0001t0020g0034
a0001c0001t0021g0076
a0001c0001t0028g0167
a0001c0001t0035g0097
a0001c0001t0037g0083
a0001c0001t0059g0180
a0001c0001t0074g0087
a0001c0001t0084g0075
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0098g0035
a0001c0001t0103g0100
a0001c0003t0003g0199
a0001c0004t0042g0209
a0006c0016t0001g0116
 33 HG00438.hp2
HG00735.hp1
HG00735.hp2
others(30): Show 
HG00438.hp2
HG00735.hp1
HG00735.hp2
HG01070.hp1
HG01071.hp1
HG01255.hp1
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01361.hp2
HG01433.hp2
HG01515.hp2
HG01891.hp2
HG02040.hp1
HG02083.hp1
HG02976.hp1
HG03098.hp1
HG03225.hp1
HG03669.hp1
NA18612.hp2
NA18940.hp2
NA18942.hp1
NA18945.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp2
NA18975.hp1
NA18984.hp1
NA18989.hp1
NA19074.hp2
NA20129.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-15533_1893-15
others(17): Show 
c.1893-15533_1893-15523delAGTAGTATTTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36782807
chr21:36782868 T
T
 C
C
 36 a0001c0001t0001g0122
a0001c0001t0002g0174
a0001c0001t0002g0238
others(33): Show 
a0001c0001t0001g0122
a0001c0001t0002g0174
a0001c0001t0002g0238
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0244
a0001c0001t0005g0021
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0006g0132
a0001c0001t0007g0227
a0001c0001t0008g0084
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0013g0223
a0001c0001t0016g0106
a0001c0001t0019g0061
a0001c0001t0020g0034
a0001c0001t0021g0076
a0001c0001t0028g0167
a0001c0001t0031g0057
a0001c0001t0035g0097
a0001c0001t0037g0083
a0001c0001t0059g0180
a0001c0001t0074g0087
a0001c0001t0084g0075
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0098g0035
a0001c0001t0103g0100
a0001c0003t0003g0199
a0001c0004t0042g0209
a0001c0004t0068g0088
a0006c0016t0001g0116
 36 HG00438.hp2
HG00735.hp1
HG00735.hp2
others(33): Show 
HG00438.hp2
HG00735.hp1
HG00735.hp2
HG01070.hp1
HG01071.hp1
HG01109.hp1
HG01255.hp1
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01361.hp2
HG01433.hp2
HG01515.hp2
HG01891.hp2
HG02040.hp1
HG02083.hp1
HG02717.hp1
HG02976.hp1
HG03098.hp1
HG03195.hp2
HG03225.hp1
HG03669.hp1
NA18612.hp2
NA18940.hp2
NA18942.hp1
NA18945.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp2
NA18975.hp1
NA18984.hp1
NA18989.hp1
NA19074.hp2
NA20129.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-15583A>G
c.1893-15583A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36782868
chr21:36782879 G
G
 A
A
 2 a0001c0001t0019g0061
a0001c0001t0031g0057
a0001c0001t0019g0061
a0001c0001t0031g0057
 2 HG01109.hp1
HG02717.hp1
HG01109.hp1
HG02717.hp1
 intron_variant MODIFIER c.1893-15594C>T
c.1893-15594C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36782879
chr21:36782926 G
G
 A
A
 6 a0001c0001t0037g0254
a0001c0006t0023g0212
a0001c0006t0023g0222
others(3): Show 
a0001c0001t0037g0254
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
a0002c0002t0048g0144
a0002c0002t0064g0243
 6 HG02109.hp2
HG02145.hp1
HG03041.hp1
others(3): Show 
HG02109.hp2
HG02145.hp1
HG03041.hp1
HG03195.hp1
HG03516.hp2
NA19043.hp2
 intron_variant MODIFIER c.1893-15641C>T
c.1893-15641C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36782926
chr21:36782977 C
C
 T
T
 14 a0001c0001t0002g0171
a0001c0001t0003g0173
a0001c0001t0007g0162
others(11): Show 
a0001c0001t0002g0171
a0001c0001t0003g0173
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0009g0178
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0061g0163
a0001c0001t0066g0059
a0001c0001t0081g0016
a0001c0001t0086g0044
a0001c0001t0090g0005
a0001c0003t0007g0221
a0002c0002t0041g0148
 14 HG00280.hp2
HG00323.hp2
HG00639.hp1
others(11): Show 
HG00280.hp2
HG00323.hp2
HG00639.hp1
HG01106.hp2
HG01168.hp1
HG01496.hp1
HG02683.hp2
HG03492.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03927.hp2
HG04204.hp2
NA18961.hp2
 intron_variant MODIFIER c.1893-15692G>A
c.1893-15692G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36782977
chr21:36783104 C
C
 G
G
 1 a0001c0001t0008g0018
a0001c0001t0008g0018
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.1893-15819G>C
c.1893-15819G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36783104
chr21:36783149 G
G
 A
A
 14 a0001c0001t0002g0171
a0001c0001t0003g0173
a0001c0001t0007g0162
others(11): Show 
a0001c0001t0002g0171
a0001c0001t0003g0173
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0009g0178
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0061g0163
a0001c0001t0066g0059
a0001c0001t0081g0016
a0001c0001t0086g0044
a0001c0001t0090g0005
a0001c0003t0007g0221
a0002c0002t0041g0148
 14 HG00280.hp2
HG00323.hp2
HG00639.hp1
others(11): Show 
HG00280.hp2
HG00323.hp2
HG00639.hp1
HG01106.hp2
HG01168.hp1
HG01496.hp1
HG02683.hp2
HG03492.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03927.hp2
HG04204.hp2
NA18961.hp2
 intron_variant MODIFIER c.1893-15864C>T
c.1893-15864C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36783149
chr21:36783162 C
C
 T
T
 1 a0001c0004t0042g0209
a0001c0004t0042g0209
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.1893-15877G>A
c.1893-15877G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36783162
chr21:36783171 T
T
 C
C
 35 a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0010g0213
others(32): Show 
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0010g0213
a0001c0001t0010g0249
a0001c0001t0012g0234
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0018g0189
a0001c0001t0022g0187
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0069g0255
a0001c0001t0075g0049
a0001c0001t0085g0110
a0001c0001t0093g0133
a0001c0001t0099g0124
a0001c0001t0106g0253
a0001c0001t0109g0119
a0001c0004t0004g0046
a0002c0002t0015g0142
a0002c0002t0040g0242
a0002c0002t0062g0145
a0003c0005t0002g0195
a0003c0005t0027g0218
 35 HG00741.hp2
HG01099.hp2
HG01243.hp1
others(32): Show 
HG00741.hp2
HG01099.hp2
HG01243.hp1
HG01257.hp2
HG01258.hp1
HG01884.hp1
HG01952.hp2
HG02109.hp1
HG02145.hp2
HG02257.hp2
HG02280.hp1
HG02486.hp1
HG02559.hp2
HG02572.hp2
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03579.hp1
HG04204.hp1
HG06807.hp2
NA19030.hp2
NA20129.hp1
 intron_variant MODIFIER c.1893-15886A>G
c.1893-15886A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36783171
chr21:36783498 G
G
 A
A
 4 a0001c0001t0006g0256
a0001c0001t0018g0176
a0001c0001t0030g0257
others(1): Show 
a0001c0001t0006g0256
a0001c0001t0018g0176
a0001c0001t0030g0257
a0002c0002t0043g0152
 4 HG02615.hp2
HG02886.hp2
HG03130.hp2
others(1): Show 
HG02615.hp2
HG02886.hp2
HG03130.hp2
HG03471.hp1
 intron_variant MODIFIER c.1893-16213C>T
c.1893-16213C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36783498
chr21:36783549 G
G
 C
C
 2 a0001c0001t0019g0061
a0001c0001t0031g0057
a0001c0001t0019g0061
a0001c0001t0031g0057
 2 HG01109.hp1
HG02717.hp1
HG01109.hp1
HG02717.hp1
 intron_variant MODIFIER c.1893-16264C>G
c.1893-16264C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36783549
chr21:36783596 C
C
 T
T
 1 a0001c0001t0028g0167
a0001c0001t0028g0167
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.1893-16311G>A
c.1893-16311G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36783596
chr21:36783605 G
G
 A
A
 1 a0001c0001t0016g0106
a0001c0001t0016g0106
 1 NA18945.hp2
NA18945.hp2
 intron_variant MODIFIER c.1893-16320C>T
c.1893-16320C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36783605
chr21:36783803 G
G
 GCA
GCA
 52 a0001c0001t0001g0027
a0001c0001t0001g0128
a0001c0001t0002g0158
others(49): Show 
a0001c0001t0001g0027
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0230
a0001c0001t0005g0052
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0009g0178
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0013g0231
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0020g0002
a0001c0001t0031g0245
a0001c0001t0037g0254
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0061g0163
a0001c0001t0066g0059
a0001c0001t0073g0246
a0001c0001t0081g0016
a0001c0001t0086g0044
a0001c0001t0090g0005
a0001c0003t0007g0221
a0001c0004t0067g0067
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0010t0011g0020
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0013g0147
a0002c0002t0025g0149
a0002c0002t0041g0148
a0002c0002t0048g0144
a0002c0002t0064g0243
 52 HG00280.hp2
HG00323.hp2
HG00639.hp1
others(49): Show 
HG00280.hp2
HG00323.hp2
HG00639.hp1
HG01070.hp2
HG01071.hp2
HG01106.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG01496.hp1
HG01891.hp1
HG01978.hp1
HG02080.hp1
HG02109.hp2
HG02145.hp1
HG02300.hp2
HG02559.hp1
HG02615.hp1
HG02622.hp1
HG02683.hp2
HG03041.hp1
HG03139.hp2
HG03195.hp1
HG03490.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18944.hp1
NA18948.hp1
NA18951.hp2
NA18961.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18993.hp2
NA19004.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19084.hp1
 intron_variant MODIFIER c.1893-16520_1893-16
others(8): Show 
c.1893-16520_1893-16519dupTG
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36783803
chr21:36783819 A
A
 G
G
 3 a0001c0001t0019g0061
a0001c0001t0031g0057
a0001c0004t0068g0088
a0001c0001t0019g0061
a0001c0001t0031g0057
a0001c0004t0068g0088
 3 HG01109.hp1
HG02717.hp1
HG03195.hp2
HG01109.hp1
HG02717.hp1
HG03195.hp2
 intron_variant MODIFIER c.1893-16534T>C
c.1893-16534T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36783819
chr21:36783822 TAC
TAC
 T
T
 32 a0001c0001t0001g0122
a0001c0001t0002g0174
a0001c0001t0002g0238
others(29): Show 
a0001c0001t0001g0122
a0001c0001t0002g0174
a0001c0001t0002g0238
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0244
a0001c0001t0005g0021
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0007g0227
a0001c0001t0008g0084
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0013g0223
a0001c0001t0016g0106
a0001c0001t0019g0061
a0001c0001t0020g0034
a0001c0001t0021g0076
a0001c0001t0031g0057
a0001c0001t0035g0097
a0001c0001t0037g0083
a0001c0001t0059g0180
a0001c0001t0074g0087
a0001c0001t0084g0075
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0098g0035
a0001c0001t0103g0100
a0001c0003t0003g0199
a0006c0016t0001g0116
 32 HG00438.hp2
HG00735.hp2
HG01070.hp1
others(29): Show 
HG00438.hp2
HG00735.hp2
HG01070.hp1
HG01071.hp1
HG01109.hp1
HG01255.hp1
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01361.hp2
HG01433.hp2
HG01515.hp2
HG01891.hp2
HG02040.hp1
HG02083.hp1
HG02717.hp1
HG03098.hp1
HG03669.hp1
NA18612.hp2
NA18940.hp2
NA18942.hp1
NA18945.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp2
NA18975.hp1
NA18984.hp1
NA18989.hp1
NA19074.hp2
NA20129.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-16539_1893-16
others(8): Show 
c.1893-16539_1893-16538delGT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36783822
chr21:36783849 C
C
 CCA
CCA
 20 a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0010g0249
others(17): Show 
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0010g0249
a0001c0001t0019g0061
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0038g0102
a0001c0001t0065g0252
a0001c0001t0073g0246
a0001c0001t0075g0049
a0001c0001t0085g0110
a0001c0001t0099g0124
a0001c0001t0106g0253
a0001c0004t0067g0067
a0001c0004t0068g0088
a0002c0002t0025g0149
a0002c0002t0045g0151
 20 HG00741.hp2
HG01109.hp1
HG01243.hp1
others(17): Show 
HG00741.hp2
HG01109.hp1
HG01243.hp1
HG01891.hp1
HG02109.hp1
HG02145.hp2
HG02257.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp2
HG02622.hp2
HG02717.hp1
HG02922.hp1
HG03041.hp2
HG03195.hp2
HG03516.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA19030.hp2
 intron_variant MODIFIER c.1893-16566_1893-16
others(8): Show 
c.1893-16566_1893-16565dupTG
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36783849
chr21:36783869 T
T
 C
C
 254 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(251): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 254 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(251): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-16584A>G
c.1893-16584A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36783869
chr21:36783955 G
G
 A
A
 1 a0001c0001t0016g0106
a0001c0001t0016g0106
 1 NA18945.hp2
NA18945.hp2
 intron_variant MODIFIER c.1893-16670C>T
c.1893-16670C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36783955
chr21:36783978 C
C
 T
T
 1 a0002c0002t0040g0242
a0002c0002t0040g0242
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.1893-16693G>A
c.1893-16693G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36783978
chr21:36784182 C
C
 G
G
 37 a0001c0001t0001g0122
a0001c0001t0002g0174
a0001c0001t0002g0238
others(34): Show 
a0001c0001t0001g0122
a0001c0001t0002g0174
a0001c0001t0002g0238
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0244
a0001c0001t0005g0021
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0006g0132
a0001c0001t0007g0227
a0001c0001t0008g0084
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0013g0223
a0001c0001t0016g0106
a0001c0001t0019g0061
a0001c0001t0020g0034
a0001c0001t0021g0076
a0001c0001t0028g0167
a0001c0001t0031g0057
a0001c0001t0035g0097
a0001c0001t0037g0083
a0001c0001t0059g0180
a0001c0001t0074g0087
a0001c0001t0084g0075
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0098g0035
a0001c0001t0103g0100
a0001c0003t0003g0199
a0001c0004t0042g0209
a0001c0004t0068g0088
a0002c0002t0046g0150
a0006c0016t0001g0116
 37 HG00438.hp2
HG00735.hp1
HG00735.hp2
others(34): Show 
HG00438.hp2
HG00735.hp1
HG00735.hp2
HG01070.hp1
HG01071.hp1
HG01109.hp1
HG01255.hp1
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01361.hp2
HG01433.hp2
HG01515.hp2
HG01891.hp2
HG02040.hp1
HG02083.hp1
HG02717.hp1
HG02976.hp1
HG03098.hp1
HG03195.hp2
HG03225.hp1
HG03579.hp2
HG03669.hp1
NA18612.hp2
NA18940.hp2
NA18942.hp1
NA18945.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp2
NA18975.hp1
NA18984.hp1
NA18989.hp1
NA19074.hp2
NA20129.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-16897G>C
c.1893-16897G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36784182
chr21:36784212 T
T
 G
G
 2 a0001c0001t0001g0068
a0001c0001t0001g0080
a0001c0001t0001g0068
a0001c0001t0001g0080
 2 HG00438.hp1
NA18948.hp2
HG00438.hp1
NA18948.hp2
 intron_variant MODIFIER c.1893-16927A>C
c.1893-16927A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36784212
chr21:36784297 T
T
 C
C
 46 a0001c0001t0001g0027
a0001c0001t0001g0128
a0001c0001t0002g0158
others(43): Show 
a0001c0001t0001g0027
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0230
a0001c0001t0005g0052
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0009g0178
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0013g0231
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0020g0002
a0001c0001t0031g0245
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0061g0163
a0001c0001t0066g0059
a0001c0001t0073g0246
a0001c0001t0081g0016
a0001c0001t0086g0044
a0001c0001t0090g0005
a0001c0003t0007g0221
a0001c0004t0067g0067
a0001c0010t0011g0020
a0001c0015t0052g0239
a0001c0018t0004g0060
a0002c0002t0013g0147
a0002c0002t0025g0149
a0002c0002t0041g0148
 46 HG00280.hp2
HG00323.hp2
HG00639.hp1
others(43): Show 
HG00280.hp2
HG00323.hp2
HG00639.hp1
HG01070.hp2
HG01071.hp2
HG01106.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG01496.hp1
HG01891.hp1
HG01978.hp1
HG02080.hp1
HG02300.hp2
HG02559.hp1
HG02615.hp1
HG02622.hp1
HG02683.hp2
HG03139.hp2
HG03490.hp2
HG03492.hp2
HG03516.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18944.hp1
NA18948.hp1
NA18951.hp2
NA18961.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18993.hp2
NA19004.hp1
NA19009.hp2
NA19043.hp1
NA19068.hp2
NA19084.hp1
 intron_variant MODIFIER c.1893-17012A>G
c.1893-17012A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36784297
chr21:36784305 C
C
 T
T
 2 a0002c0002t0018g0153
a0009c0009t0012g0196
a0002c0002t0018g0153
a0009c0009t0012g0196
 2 HG02647.hp1
NA18522.hp2
HG02647.hp1
NA18522.hp2
 intron_variant MODIFIER c.1893-17020G>A
c.1893-17020G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36784305
chr21:36784311 C
C
 CT
CT
 31 a0001c0001t0001g0027
a0001c0001t0001g0128
a0001c0001t0002g0158
others(28): Show 
a0001c0001t0001g0027
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0232
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0230
a0001c0001t0005g0052
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0013g0231
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0020g0002
a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0004t0067g0067
a0001c0010t0011g0020
a0001c0015t0052g0239
a0001c0018t0004g0060
a0002c0002t0013g0147
a0002c0002t0025g0149
 31 HG01070.hp2
HG01071.hp2
HG01168.hp2
others(28): Show 
HG01070.hp2
HG01071.hp2
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG01891.hp1
HG01978.hp1
HG02080.hp1
HG02300.hp2
HG02559.hp1
HG02615.hp1
HG02622.hp1
HG03139.hp2
HG03490.hp2
HG03516.hp1
HG03669.hp2
HG03710.hp2
HG04115.hp2
HG04228.hp2
HG06807.hp1
NA18944.hp1
NA18948.hp1
NA18951.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18993.hp2
NA19004.hp1
NA19009.hp2
NA19043.hp1
NA19068.hp2
 intron_variant MODIFIER c.1893-17027dupA
c.1893-17027dupA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36784311
chr21:36784311 CT
CT
 C
C
 32 a0001c0001t0001g0072
a0001c0001t0006g0256
a0001c0001t0015g0141
others(29): Show 
a0001c0001t0001g0072
a0001c0001t0006g0256
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0022g0187
a0001c0001t0026g0250
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0036g0140
a0001c0001t0038g0054
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0069g0255
a0001c0001t0083g0013
a0001c0001t0093g0133
a0001c0001t0109g0119
a0001c0003t0007g0215
a0001c0003t0012g0205
a0001c0004t0004g0046
a0001c0007t0007g0200
a0001c0007t0012g0207
a0002c0002t0015g0142
a0002c0002t0040g0242
a0002c0002t0043g0152
a0002c0002t0046g0150
a0002c0002t0062g0145
a0003c0005t0027g0218
a0003c0005t0058g0214
a0008c0012t0035g0069
 32 HG00323.hp1
HG01081.hp2
HG01099.hp2
others(29): Show 
HG00323.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01258.hp1
HG01516.hp2
HG01884.hp1
HG01952.hp2
HG02257.hp1
HG02280.hp1
HG02559.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
NA18940.hp1
 intron_variant MODIFIER c.1893-17027delA
c.1893-17027delA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36784311
chr21:36784311 CTT
CTT
 C
C
 85 a0001c0001t0001g0010
a0001c0001t0001g0024
a0001c0001t0001g0043
others(82): Show 
a0001c0001t0001g0010
a0001c0001t0001g0024
a0001c0001t0001g0043
a0001c0001t0001g0066
a0001c0001t0001g0077
a0001c0001t0001g0092
a0001c0001t0001g0122
a0001c0001t0002g0174
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0244
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0006g0085
a0001c0001t0006g0132
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0084
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0213
a0001c0001t0010g0249
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0240
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0020g0034
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0037g0254
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0047g0188
a0001c0001t0059g0180
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0078g0108
a0001c0001t0080g0093
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0095g0117
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0003t0003g0199
a0001c0004t0042g0209
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
a0002c0002t0002g0154
a0002c0002t0003g0156
a0002c0002t0045g0151
a0002c0002t0048g0144
a0002c0002t0064g0243
a0003c0005t0002g0195
a0004c0019t0112g0258
 85 HG00438.hp2
HG00673.hp1
HG00735.hp1
others(82): Show 
HG00438.hp2
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00741.hp2
HG01070.hp1
HG01071.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp2
HG01346.hp1
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01884.hp2
HG01891.hp2
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02300.hp1
HG02486.hp1
HG02523.hp2
HG02572.hp2
HG02615.hp2
HG02723.hp2
HG02895.hp2
HG02922.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03195.hp1
HG03225.hp1
HG03239.hp1
HG03471.hp2
HG03516.hp2
HG03669.hp1
HG04204.hp1
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp2
NA18945.hp2
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18970.hp2
NA18975.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp2
NA18993.hp1
NA19004.hp2
NA19030.hp2
NA19043.hp2
NA19057.hp2
NA19074.hp2
NA19084.hp2
NA19088.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-17028_1893-17
others(8): Show 
c.1893-17028_1893-17027delAA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36784311
chr21:36784318 T
T
 C
C
 1 a0003c0005t0058g0214
a0003c0005t0058g0214
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.1893-17033A>G
c.1893-17033A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36784318
chr21:36784373 C
C
 T
T
 1 a0001c0001t0028g0167
a0001c0001t0028g0167
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.1893-17088G>A
c.1893-17088G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36784373
chr21:36784381 T
T
 C
C
 1 a0001c0001t0084g0075
a0001c0001t0084g0075
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-17096A>G
c.1893-17096A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36784381
chr21:36784508 G
G
 A
A
 1 a0001c0001t0002g0158
a0001c0001t0002g0158
 1 HG03490.hp2
HG03490.hp2
 intron_variant MODIFIER c.1893-17223C>T
c.1893-17223C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36784508
chr21:36784666 T
T
 C
C
 46 a0001c0001t0001g0027
a0001c0001t0001g0128
a0001c0001t0002g0158
others(43): Show 
a0001c0001t0001g0027
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0230
a0001c0001t0005g0052
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0009g0178
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0013g0231
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0020g0002
a0001c0001t0031g0245
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0061g0163
a0001c0001t0066g0059
a0001c0001t0073g0246
a0001c0001t0081g0016
a0001c0001t0086g0044
a0001c0001t0090g0005
a0001c0003t0007g0221
a0001c0004t0067g0067
a0001c0010t0011g0020
a0001c0015t0052g0239
a0001c0018t0004g0060
a0002c0002t0013g0147
a0002c0002t0025g0149
a0002c0002t0041g0148
 46 HG00280.hp2
HG00323.hp2
HG00639.hp1
others(43): Show 
HG00280.hp2
HG00323.hp2
HG00639.hp1
HG01070.hp2
HG01071.hp2
HG01106.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG01496.hp1
HG01891.hp1
HG01978.hp1
HG02080.hp1
HG02300.hp2
HG02559.hp1
HG02615.hp1
HG02622.hp1
HG02683.hp2
HG03139.hp2
HG03490.hp2
HG03492.hp2
HG03516.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18944.hp1
NA18948.hp1
NA18951.hp2
NA18961.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18993.hp2
NA19004.hp1
NA19009.hp2
NA19043.hp1
NA19068.hp2
NA19084.hp1
 intron_variant MODIFIER c.1893-17381A>G
c.1893-17381A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36784666
chr21:36784685 C
C
 A
A
 6 a0001c0001t0001g0072
a0001c0001t0036g0140
a0001c0003t0007g0215
others(3): Show 
a0001c0001t0001g0072
a0001c0001t0036g0140
a0001c0003t0007g0215
a0001c0003t0012g0205
a0001c0007t0007g0200
a0001c0007t0012g0207
 6 HG00323.hp1
HG01106.hp1
HG01109.hp2
others(3): Show 
HG00323.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01516.hp2
HG02257.hp1
 intron_variant MODIFIER c.1893-17400G>T
c.1893-17400G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36784685
chr21:36785022 C
C
 T
T
 4 a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0004t0067g0067
others(1): Show 
a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0004t0067g0067
a0002c0002t0025g0149
 4 HG01891.hp1
HG02559.hp1
HG03516.hp1
others(1): Show 
HG01891.hp1
HG02559.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.1893-17737G>A
c.1893-17737G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36785022
chr21:36785207 C
C
 T
T
 1 a0001c0004t0042g0209
a0001c0004t0042g0209
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.1893-17922G>A
c.1893-17922G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36785207
chr21:36785208 G
G
 A
A
 3 a0001c0001t0038g0102
a0001c0001t0075g0049
a0001c0001t0085g0110
a0001c0001t0038g0102
a0001c0001t0075g0049
a0001c0001t0085g0110
 3 HG02109.hp1
HG02572.hp2
HG06807.hp2
HG02109.hp1
HG02572.hp2
HG06807.hp2
 intron_variant MODIFIER c.1893-17923C>T
c.1893-17923C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36785208
chr21:36785249 G
G
 A
A
 1 a0001c0001t0005g0056
a0001c0001t0005g0056
 1 NA18942.hp1
NA18942.hp1
 intron_variant MODIFIER c.1893-17964C>T
c.1893-17964C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36785249
chr21:36785295 C
C
 A
A
 4 a0001c0001t0006g0256
a0001c0001t0018g0176
a0001c0001t0030g0257
others(1): Show 
a0001c0001t0006g0256
a0001c0001t0018g0176
a0001c0001t0030g0257
a0002c0002t0043g0152
 4 HG02615.hp2
HG02886.hp2
HG03130.hp2
others(1): Show 
HG02615.hp2
HG02886.hp2
HG03130.hp2
HG03471.hp1
 intron_variant MODIFIER c.1893-18010G>T
c.1893-18010G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36785295
chr21:36785349 G
G
 A
A
 28 a0001c0001t0001g0027
a0001c0001t0001g0128
a0001c0001t0002g0158
others(25): Show 
a0001c0001t0001g0027
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0230
a0001c0001t0005g0052
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0013g0231
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0020g0002
a0001c0010t0011g0020
a0001c0015t0052g0239
a0001c0018t0004g0060
a0002c0002t0013g0147
 28 HG01070.hp2
HG01071.hp2
HG01168.hp2
others(25): Show 
HG01070.hp2
HG01071.hp2
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG01978.hp1
HG02080.hp1
HG02300.hp2
HG02615.hp1
HG02622.hp1
HG03139.hp2
HG03490.hp2
HG03669.hp2
HG03710.hp2
HG04115.hp2
HG04228.hp2
NA18944.hp1
NA18948.hp1
NA18951.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18993.hp2
NA19004.hp1
NA19009.hp2
NA19043.hp1
NA19068.hp2
NA19084.hp1
 intron_variant MODIFIER c.1893-18064C>T
c.1893-18064C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36785349
chr21:36785363 G
G
 A
A
 1 a0001c0001t0002g0158
a0001c0001t0002g0158
 1 HG03490.hp2
HG03490.hp2
 intron_variant MODIFIER c.1893-18078C>T
c.1893-18078C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36785363
chr21:36785473 AC
AC
 A
A
 3 a0001c0001t0002g0179
a0001c0001t0003g0184
a0001c0001t0010g0164
a0001c0001t0002g0179
a0001c0001t0003g0184
a0001c0001t0010g0164
 3 NA18968.hp2
NA18993.hp2
NA19068.hp2
NA18968.hp2
NA18993.hp2
NA19068.hp2
 intron_variant MODIFIER c.1893-18189delG
c.1893-18189delG
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36785473
chr21:36785474 C
C
 A
A
 2 a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0064
a0001c0001t0008g0065
 2 HG03490.hp1
HG03492.hp1
HG03490.hp1
HG03492.hp1
 intron_variant MODIFIER c.1893-18189G>T
c.1893-18189G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36785474
chr21:36785496 C
C
 T
T
 4 a0001c0001t0006g0256
a0001c0001t0018g0176
a0001c0001t0030g0257
others(1): Show 
a0001c0001t0006g0256
a0001c0001t0018g0176
a0001c0001t0030g0257
a0002c0002t0043g0152
 4 HG02615.hp2
HG02886.hp2
HG03130.hp2
others(1): Show 
HG02615.hp2
HG02886.hp2
HG03130.hp2
HG03471.hp1
 intron_variant MODIFIER c.1893-18211G>A
c.1893-18211G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36785496
chr21:36785721 T
T
 C
C
 1 a0001c0004t0068g0088
a0001c0004t0068g0088
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.1893-18436A>G
c.1893-18436A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36785721
chr21:36785755 T
T
 C
C
 1 a0002c0002t0046g0150
a0002c0002t0046g0150
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.1893-18470A>G
c.1893-18470A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36785755
chr21:36785763 G
G
 A
A
 2 a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0002g0195
a0003c0005t0027g0218
 2 HG03579.hp1
NA20129.hp1
HG03579.hp1
NA20129.hp1
 intron_variant MODIFIER c.1893-18478C>T
c.1893-18478C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36785763
chr21:36786055 A
A
 G
G
 18 a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
others(15): Show 
a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0022g0187
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0038g0054
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0069g0255
a0001c0001t0093g0133
a0001c0004t0004g0046
a0002c0002t0015g0142
a0003c0005t0002g0195
a0003c0005t0027g0218
 18 HG01099.hp2
HG01257.hp2
HG01258.hp1
others(15): Show 
HG01099.hp2
HG01257.hp2
HG01258.hp1
HG01884.hp1
HG02280.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp1
HG03209.hp1
HG03453.hp1
HG03579.hp1
NA20129.hp1
 intron_variant MODIFIER c.1893-18770T>C
c.1893-18770T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36786055
chr21:36786283 CT
CT
 C
C
 45 a0001c0001t0001g0027
a0001c0001t0001g0128
a0001c0001t0002g0158
others(42): Show 
a0001c0001t0001g0027
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0230
a0001c0001t0005g0052
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0009g0178
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0013g0231
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0020g0002
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0061g0163
a0001c0001t0066g0059
a0001c0001t0081g0016
a0001c0001t0086g0044
a0001c0001t0090g0005
a0001c0003t0007g0221
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0010t0011g0020
a0001c0015t0052g0239
a0001c0018t0004g0060
a0002c0002t0013g0147
a0002c0002t0041g0148
 45 HG00280.hp2
HG00323.hp2
HG00639.hp1
others(42): Show 
HG00280.hp2
HG00323.hp2
HG00639.hp1
HG01070.hp2
HG01071.hp2
HG01106.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG01496.hp1
HG01978.hp1
HG02080.hp1
HG02300.hp2
HG02615.hp1
HG02622.hp1
HG02647.hp2
HG02683.hp2
HG02896.hp1
HG02897.hp2
HG03139.hp2
HG03490.hp2
HG03492.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG04228.hp2
NA18944.hp1
NA18948.hp1
NA18951.hp2
NA18961.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18993.hp2
NA19004.hp1
NA19009.hp2
NA19043.hp1
NA19068.hp2
NA19084.hp1
 intron_variant MODIFIER c.1893-18999delA
c.1893-18999delA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36786283
chr21:36786535 G
G
 A
A
 30 a0001c0001t0001g0122
a0001c0001t0002g0174
a0001c0001t0002g0238
others(27): Show 
a0001c0001t0001g0122
a0001c0001t0002g0174
a0001c0001t0002g0238
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0244
a0001c0001t0005g0021
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0007g0227
a0001c0001t0008g0084
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0013g0223
a0001c0001t0016g0106
a0001c0001t0020g0034
a0001c0001t0021g0076
a0001c0001t0035g0097
a0001c0001t0037g0083
a0001c0001t0059g0180
a0001c0001t0074g0087
a0001c0001t0084g0075
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0098g0035
a0001c0001t0103g0100
a0001c0003t0003g0199
a0006c0016t0001g0116
 30 HG00438.hp2
HG00735.hp2
HG01070.hp1
others(27): Show 
HG00438.hp2
HG00735.hp2
HG01070.hp1
HG01071.hp1
HG01255.hp1
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01361.hp2
HG01433.hp2
HG01515.hp2
HG01891.hp2
HG02040.hp1
HG02083.hp1
HG03098.hp1
HG03669.hp1
NA18612.hp2
NA18940.hp2
NA18942.hp1
NA18945.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp2
NA18975.hp1
NA18984.hp1
NA18989.hp1
NA19074.hp2
NA20129.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-19250C>T
c.1893-19250C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36786535
chr21:36786880 T
T
 C
C
 33 a0001c0001t0001g0122
a0001c0001t0002g0174
a0001c0001t0002g0238
others(30): Show 
a0001c0001t0001g0122
a0001c0001t0002g0174
a0001c0001t0002g0238
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0244
a0001c0001t0005g0021
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0006g0132
a0001c0001t0007g0227
a0001c0001t0008g0084
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0013g0223
a0001c0001t0016g0106
a0001c0001t0020g0034
a0001c0001t0021g0076
a0001c0001t0028g0167
a0001c0001t0035g0097
a0001c0001t0037g0083
a0001c0001t0059g0180
a0001c0001t0074g0087
a0001c0001t0084g0075
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0098g0035
a0001c0001t0103g0100
a0001c0003t0003g0199
a0001c0004t0042g0209
a0006c0016t0001g0116
 33 HG00438.hp2
HG00735.hp1
HG00735.hp2
others(30): Show 
HG00438.hp2
HG00735.hp1
HG00735.hp2
HG01070.hp1
HG01071.hp1
HG01255.hp1
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01361.hp2
HG01433.hp2
HG01515.hp2
HG01891.hp2
HG02040.hp1
HG02083.hp1
HG02976.hp1
HG03098.hp1
HG03225.hp1
HG03669.hp1
NA18612.hp2
NA18940.hp2
NA18942.hp1
NA18945.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp2
NA18975.hp1
NA18984.hp1
NA18989.hp1
NA19074.hp2
NA20129.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-19595A>G
c.1893-19595A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36786880
chr21:36786951 C
C
 T
T
 2 a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0064
a0001c0001t0008g0065
 2 HG03490.hp1
HG03492.hp1
HG03490.hp1
HG03492.hp1
 intron_variant MODIFIER c.1893-19666G>A
c.1893-19666G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36786951
chr21:36786978 C
C
 T
T
 1 a0002c0002t0046g0150
a0002c0002t0046g0150
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.1893-19693G>A
c.1893-19693G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36786978
chr21:36787001 G
G
 A
A
 1 a0001c0003t0007g0210
a0001c0003t0007g0210
 1 NA20805.hp1
NA20805.hp1
 intron_variant MODIFIER c.1893-19716C>T
c.1893-19716C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36787001
chr21:36787080 A
A
 G
G
 4 a0001c0001t0005g0052
a0001c0001t0005g0135
a0001c0018t0004g0060
others(1): Show 
a0001c0001t0005g0052
a0001c0001t0005g0135
a0001c0018t0004g0060
a0002c0002t0013g0147
 4 HG02615.hp1
HG02622.hp1
HG03139.hp2
others(1): Show 
HG02615.hp1
HG02622.hp1
HG03139.hp2
NA19043.hp1
 intron_variant MODIFIER c.1893-19795T>C
c.1893-19795T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36787080
chr21:36787100 G
G
 C
C
 93 a0001c0001t0001g0027
a0001c0001t0001g0122
a0001c0001t0001g0128
others(90): Show 
a0001c0001t0001g0027
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0227
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0019g0061
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0021g0076
a0001c0001t0028g0167
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0035g0097
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0066g0059
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0081g0016
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0098g0035
a0001c0001t0103g0100
a0001c0003t0003g0199
a0001c0003t0007g0221
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0010t0011g0020
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0013g0147
a0002c0002t0025g0149
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0064g0243
a0006c0016t0001g0116
 93 HG00280.hp2
HG00323.hp2
HG00438.hp2
others(90): Show 
HG00280.hp2
HG00323.hp2
HG00438.hp2
HG00639.hp1
HG00735.hp1
HG00735.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp2
HG01109.hp1
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG01255.hp1
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01361.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG02040.hp1
HG02080.hp1
HG02083.hp1
HG02109.hp2
HG02145.hp1
HG02300.hp2
HG02559.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp2
HG02717.hp1
HG02886.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03471.hp1
HG03490.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18612.hp2
NA18940.hp2
NA18942.hp1
NA18944.hp1
NA18945.hp2
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp2
NA18961.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18975.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp2
NA19004.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19074.hp2
NA19084.hp1
NA20129.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-19815C>G
c.1893-19815C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36787100
chr21:36787159 G
G
 A
A
 34 a0001c0001t0001g0122
a0001c0001t0002g0174
a0001c0001t0002g0238
others(31): Show 
a0001c0001t0001g0122
a0001c0001t0002g0174
a0001c0001t0002g0238
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0244
a0001c0001t0005g0021
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0006g0132
a0001c0001t0007g0227
a0001c0001t0008g0084
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0013g0223
a0001c0001t0016g0106
a0001c0001t0020g0034
a0001c0001t0021g0076
a0001c0001t0028g0167
a0001c0001t0035g0097
a0001c0001t0037g0083
a0001c0001t0059g0180
a0001c0001t0074g0087
a0001c0001t0084g0075
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0098g0035
a0001c0001t0103g0100
a0001c0003t0003g0199
a0001c0004t0042g0209
a0002c0002t0046g0150
a0006c0016t0001g0116
 34 HG00438.hp2
HG00735.hp1
HG00735.hp2
others(31): Show 
HG00438.hp2
HG00735.hp1
HG00735.hp2
HG01070.hp1
HG01071.hp1
HG01255.hp1
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01361.hp2
HG01433.hp2
HG01515.hp2
HG01891.hp2
HG02040.hp1
HG02083.hp1
HG02976.hp1
HG03098.hp1
HG03225.hp1
HG03579.hp2
HG03669.hp1
NA18612.hp2
NA18940.hp2
NA18942.hp1
NA18945.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp2
NA18975.hp1
NA18984.hp1
NA18989.hp1
NA19074.hp2
NA20129.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-19874C>T
c.1893-19874C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36787159
chr21:36787246 C
C
 T
T
 1 a0001c0001t0002g0165
a0001c0001t0002g0165
 1 HG01978.hp1
HG01978.hp1
 intron_variant MODIFIER c.1893-19961G>A
c.1893-19961G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36787246
chr21:36787270 G
G
 A
A
 3 a0001c0003t0111g0137
a0002c0002t0018g0153
a0009c0009t0012g0196
a0001c0003t0111g0137
a0002c0002t0018g0153
a0009c0009t0012g0196
 3 HG02647.hp1
HG02717.hp2
NA18522.hp2
HG02647.hp1
HG02717.hp2
NA18522.hp2
 intron_variant MODIFIER c.1893-19985C>T
c.1893-19985C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36787270
chr21:36787313 C
C
 T
T
 1 a0001c0001t0003g0166
a0001c0001t0003g0166
 1 NA19004.hp2
NA19004.hp2
 intron_variant MODIFIER c.1893-20028G>A
c.1893-20028G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36787313
chr21:36787330 C
C
 T
T
 1 a0001c0004t0068g0088
a0001c0004t0068g0088
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.1893-20045G>A
c.1893-20045G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36787330
chr21:36787415 G
G
 A
A
 1 a0001c0001t0002g0193
a0001c0001t0002g0193
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.1893-20130C>T
c.1893-20130C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36787415
chr21:36787475 C
C
 G
G
 14 a0001c0001t0002g0171
a0001c0001t0003g0173
a0001c0001t0007g0162
others(11): Show 
a0001c0001t0002g0171
a0001c0001t0003g0173
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0009g0178
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0061g0163
a0001c0001t0066g0059
a0001c0001t0081g0016
a0001c0001t0086g0044
a0001c0001t0090g0005
a0001c0003t0007g0221
a0002c0002t0041g0148
 14 HG00280.hp2
HG00323.hp2
HG00639.hp1
others(11): Show 
HG00280.hp2
HG00323.hp2
HG00639.hp1
HG01106.hp2
HG01168.hp1
HG01496.hp1
HG02683.hp2
HG03492.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03927.hp2
HG04204.hp2
NA18961.hp2
 intron_variant MODIFIER c.1893-20190G>C
c.1893-20190G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36787475
chr21:36787604 T
T
 A
A
 1 a0001c0001t0103g0100
a0001c0001t0103g0100
 1 HG00438.hp2
HG00438.hp2
 intron_variant MODIFIER c.1893-20319A>T
c.1893-20319A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36787604
chr21:36787725 C
C
 T
T
 52 a0001c0001t0001g0027
a0001c0001t0001g0128
a0001c0001t0002g0158
others(49): Show 
a0001c0001t0001g0027
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0230
a0001c0001t0005g0052
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0009g0178
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0013g0231
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0020g0002
a0001c0001t0031g0245
a0001c0001t0037g0254
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0061g0163
a0001c0001t0066g0059
a0001c0001t0073g0246
a0001c0001t0081g0016
a0001c0001t0086g0044
a0001c0001t0090g0005
a0001c0003t0007g0221
a0001c0004t0067g0067
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0010t0011g0020
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0013g0147
a0002c0002t0025g0149
a0002c0002t0041g0148
a0002c0002t0048g0144
a0002c0002t0064g0243
 52 HG00280.hp2
HG00323.hp2
HG00639.hp1
others(49): Show 
HG00280.hp2
HG00323.hp2
HG00639.hp1
HG01070.hp2
HG01071.hp2
HG01106.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG01496.hp1
HG01891.hp1
HG01978.hp1
HG02080.hp1
HG02109.hp2
HG02145.hp1
HG02300.hp2
HG02559.hp1
HG02615.hp1
HG02622.hp1
HG02683.hp2
HG03041.hp1
HG03139.hp2
HG03195.hp1
HG03490.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18944.hp1
NA18948.hp1
NA18951.hp2
NA18961.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18993.hp2
NA19004.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19084.hp1
 intron_variant MODIFIER c.1893-20440G>A
c.1893-20440G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36787725
chr21:36787814 C
C
 T
T
 3 a0001c0001t0019g0061
a0001c0001t0031g0057
a0001c0004t0068g0088
a0001c0001t0019g0061
a0001c0001t0031g0057
a0001c0004t0068g0088
 3 HG01109.hp1
HG02717.hp1
HG03195.hp2
HG01109.hp1
HG02717.hp1
HG03195.hp2
 intron_variant MODIFIER c.1893-20529G>A
c.1893-20529G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36787814
chr21:36787862 T
T
 C
C
 171 a0001c0001t0001g0011
a0001c0001t0001g0024
a0001c0001t0001g0027
others(168): Show 
a0001c0001t0001g0011
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0043
a0001c0001t0001g0066
a0001c0001t0001g0072
a0001c0001t0001g0077
a0001c0001t0001g0092
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0085
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0022g0187
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0047g0188
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0078g0108
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0093g0133
a0001c0001t0095g0117
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0004t0004g0046
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0154
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0025g0149
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0004c0019t0112g0258
a0006c0016t0001g0116
a0008c0012t0035g0069
 171 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(168): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00639.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01361.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp2
HG01978.hp1
HG01981.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18975.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19068.hp2
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-20577A>G
c.1893-20577A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36787862
chr21:36787910 C
C
 G
G
 3 a0001c0001t0019g0061
a0001c0001t0031g0057
a0001c0004t0068g0088
a0001c0001t0019g0061
a0001c0001t0031g0057
a0001c0004t0068g0088
 3 HG01109.hp1
HG02717.hp1
HG03195.hp2
HG01109.hp1
HG02717.hp1
HG03195.hp2
 intron_variant MODIFIER c.1893-20625G>C
c.1893-20625G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36787910
chr21:36788159 G
G
 C
C
 22 a0001c0001t0001g0011
a0001c0001t0001g0024
a0001c0001t0001g0066
others(19): Show 
a0001c0001t0001g0011
a0001c0001t0001g0024
a0001c0001t0001g0066
a0001c0001t0001g0077
a0001c0001t0001g0092
a0001c0001t0003g0166
a0001c0001t0005g0004
a0001c0001t0005g0086
a0001c0001t0005g0113
a0001c0001t0006g0085
a0001c0001t0011g0118
a0001c0001t0013g0240
a0001c0001t0016g0091
a0001c0001t0021g0129
a0001c0001t0036g0123
a0001c0001t0039g0033
a0001c0001t0076g0090
a0001c0001t0080g0093
a0001c0001t0083g0013
a0001c0001t0087g0095
a0001c0001t0095g0117
a0001c0001t0104g0114
 22 HG00673.hp1
HG01081.hp2
HG01257.hp1
others(19): Show 
HG00673.hp1
HG01081.hp2
HG01257.hp1
HG01496.hp2
HG02040.hp2
HG02080.hp2
HG02523.hp1
NA18612.hp1
NA18939.hp1
NA18944.hp2
NA18947.hp1
NA18952.hp1
NA18959.hp1
NA18970.hp2
NA18979.hp2
NA18984.hp2
NA18989.hp2
NA18993.hp1
NA19004.hp2
NA19057.hp2
NA19084.hp2
NA19088.hp2
 intron_variant MODIFIER c.1893-20874C>G
c.1893-20874C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36788159
chr21:36788520 C
C
 G
G
 16 a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0010g0249
others(13): Show 
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0010g0249
a0001c0001t0012g0234
a0001c0001t0030g0048
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0038g0102
a0001c0001t0065g0252
a0001c0001t0075g0049
a0001c0001t0085g0110
a0001c0001t0099g0124
a0001c0001t0106g0253
a0001c0001t0109g0119
a0002c0002t0040g0242
a0002c0002t0062g0145
 16 HG00741.hp2
HG01243.hp1
HG02109.hp1
others(13): Show 
HG00741.hp2
HG01243.hp1
HG02109.hp1
HG02145.hp2
HG02257.hp2
HG02486.hp1
HG02559.hp2
HG02572.hp2
HG02622.hp2
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03209.hp2
HG04204.hp1
HG06807.hp2
NA19030.hp2
 intron_variant MODIFIER c.1893-21235G>C
c.1893-21235G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36788520
chr21:36788610 T
T
 C
C
 93 a0001c0001t0001g0027
a0001c0001t0001g0122
a0001c0001t0001g0128
others(90): Show 
a0001c0001t0001g0027
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0227
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0019g0061
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0021g0076
a0001c0001t0028g0167
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0035g0097
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0066g0059
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0081g0016
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0098g0035
a0001c0001t0103g0100
a0001c0003t0003g0199
a0001c0003t0007g0221
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0010t0011g0020
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0013g0147
a0002c0002t0025g0149
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0064g0243
a0006c0016t0001g0116
 93 HG00280.hp2
HG00323.hp2
HG00438.hp2
others(90): Show 
HG00280.hp2
HG00323.hp2
HG00438.hp2
HG00639.hp1
HG00735.hp1
HG00735.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp2
HG01109.hp1
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG01255.hp1
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01361.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp2
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG02040.hp1
HG02080.hp1
HG02083.hp1
HG02109.hp2
HG02145.hp1
HG02300.hp2
HG02559.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp2
HG02717.hp1
HG02886.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03471.hp1
HG03490.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18612.hp2
NA18940.hp2
NA18942.hp1
NA18944.hp1
NA18945.hp2
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp2
NA18961.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18975.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp2
NA19004.hp1
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19074.hp2
NA19084.hp1
NA20129.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-21325A>G
c.1893-21325A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36788610
chr21:36788668 T
T
 C
C
 1 a0001c0018t0004g0060
a0001c0018t0004g0060
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.1893-21383A>G
c.1893-21383A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36788668
chr21:36788717 T
T
 C
C
 6 a0001c0001t0037g0254
a0001c0006t0023g0212
a0001c0006t0023g0222
others(3): Show 
a0001c0001t0037g0254
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
a0002c0002t0048g0144
a0002c0002t0064g0243
 6 HG02109.hp2
HG02145.hp1
HG03041.hp1
others(3): Show 
HG02109.hp2
HG02145.hp1
HG03041.hp1
HG03195.hp1
HG03516.hp2
NA19043.hp2
 intron_variant MODIFIER c.1893-21432A>G
c.1893-21432A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36788717
chr21:36788770 T
T
 C
C
 1 a0001c0001t0006g0132
a0001c0001t0006g0132
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.1893-21485A>G
c.1893-21485A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36788770
chr21:36788873 G
G
 A
A
 3 a0001c0001t0019g0061
a0001c0001t0031g0057
a0001c0004t0068g0088
a0001c0001t0019g0061
a0001c0001t0031g0057
a0001c0004t0068g0088
 3 HG01109.hp1
HG02717.hp1
HG03195.hp2
HG01109.hp1
HG02717.hp1
HG03195.hp2
 intron_variant MODIFIER c.1893-21588C>T
c.1893-21588C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36788873
chr21:36788880 G
G
 A
A
 2 a0001c0001t0001g0040
a0001c0001t0001g0071
a0001c0001t0001g0040
a0001c0001t0001g0071
 2 HG01361.hp1
HG01952.hp1
HG01361.hp1
HG01952.hp1
 intron_variant MODIFIER c.1893-21595C>T
c.1893-21595C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36788880
chr21:36789056 G
G
 T
T
 2 a0001c0001t0003g0175
a0001c0010t0011g0020
a0001c0001t0003g0175
a0001c0010t0011g0020
 2 NA18951.hp2
NA18970.hp1
NA18951.hp2
NA18970.hp1
 intron_variant MODIFIER c.1893-21771C>A
c.1893-21771C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36789056
chr21:36789291 T
T
 C
C
 19 a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
others(16): Show 
a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0018g0189
a0001c0001t0022g0187
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0038g0054
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0069g0255
a0001c0001t0093g0133
a0001c0004t0004g0046
a0002c0002t0015g0142
a0003c0005t0002g0195
a0003c0005t0027g0218
 19 HG01099.hp2
HG01257.hp2
HG01258.hp1
others(16): Show 
HG01099.hp2
HG01257.hp2
HG01258.hp1
HG01884.hp1
HG01952.hp2
HG02280.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp1
HG03209.hp1
HG03453.hp1
HG03579.hp1
NA20129.hp1
 intron_variant MODIFIER c.1893-22006A>G
c.1893-22006A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36789291
chr21:36789408 C
C
 T
T
 14 a0001c0001t0002g0171
a0001c0001t0003g0173
a0001c0001t0007g0162
others(11): Show 
a0001c0001t0002g0171
a0001c0001t0003g0173
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0009g0178
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0061g0163
a0001c0001t0066g0059
a0001c0001t0081g0016
a0001c0001t0086g0044
a0001c0001t0090g0005
a0001c0003t0007g0221
a0002c0002t0041g0148
 14 HG00280.hp2
HG00323.hp2
HG00639.hp1
others(11): Show 
HG00280.hp2
HG00323.hp2
HG00639.hp1
HG01106.hp2
HG01168.hp1
HG01496.hp1
HG02683.hp2
HG03492.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03927.hp2
HG04204.hp2
NA18961.hp2
 intron_variant MODIFIER c.1893-22123G>A
c.1893-22123G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36789408
chr21:36789490 G
G
 A
A
 1 a0002c0002t0046g0150
a0002c0002t0046g0150
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.1893-22205C>T
c.1893-22205C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36789490
chr21:36789587 T
T
 C
C
 4 a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0004t0067g0067
others(1): Show 
a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0004t0067g0067
a0002c0002t0025g0149
 4 HG01891.hp1
HG02559.hp1
HG03516.hp1
others(1): Show 
HG01891.hp1
HG02559.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.1893-22302A>G
c.1893-22302A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36789587
chr21:36789710 C
C
 T
T
 1 a0001c0003t0007g0210
a0001c0003t0007g0210
 1 NA20805.hp1
NA20805.hp1
 intron_variant MODIFIER c.1893-22425G>A
c.1893-22425G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36789710
chr21:36789711 G
G
 C
C
 46 a0001c0001t0001g0027
a0001c0001t0001g0128
a0001c0001t0002g0158
others(43): Show 
a0001c0001t0001g0027
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0230
a0001c0001t0005g0052
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0009g0178
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0013g0231
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0020g0002
a0001c0001t0031g0245
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0061g0163
a0001c0001t0066g0059
a0001c0001t0073g0246
a0001c0001t0081g0016
a0001c0001t0086g0044
a0001c0001t0090g0005
a0001c0003t0007g0221
a0001c0004t0067g0067
a0001c0010t0011g0020
a0001c0015t0052g0239
a0001c0018t0004g0060
a0002c0002t0013g0147
a0002c0002t0025g0149
a0002c0002t0041g0148
 46 HG00280.hp2
HG00323.hp2
HG00639.hp1
others(43): Show 
HG00280.hp2
HG00323.hp2
HG00639.hp1
HG01070.hp2
HG01071.hp2
HG01106.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG01496.hp1
HG01891.hp1
HG01978.hp1
HG02080.hp1
HG02300.hp2
HG02559.hp1
HG02615.hp1
HG02622.hp1
HG02683.hp2
HG03139.hp2
HG03490.hp2
HG03492.hp2
HG03516.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18944.hp1
NA18948.hp1
NA18951.hp2
NA18961.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18993.hp2
NA19004.hp1
NA19009.hp2
NA19043.hp1
NA19068.hp2
NA19084.hp1
 intron_variant MODIFIER c.1893-22426C>G
c.1893-22426C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36789711
chr21:36789914 G
G
 A
A
 2 a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0201
a0001c0001t0009g0202
 2 HG01256.hp2
HG01258.hp2
HG01256.hp2
HG01258.hp2
 intron_variant MODIFIER c.1893-22629C>T
c.1893-22629C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36789914
chr21:36790118 G
G
 A
A
 112 a0001c0001t0001g0027
a0001c0001t0001g0072
a0001c0001t0001g0122
others(109): Show 
a0001c0001t0001g0027
a0001c0001t0001g0072
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0015
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0132
a0001c0001t0007g0227
a0001c0001t0008g0084
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0106
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0021g0076
a0001c0001t0022g0187
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0035g0097
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0056g0198
a0001c0001t0059g0180
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0093g0133
a0001c0001t0096g0025
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0106g0253
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0004t0004g0046
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0025g0149
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0006c0016t0001g0116
 112 HG00438.hp2
HG00639.hp1
HG00735.hp1
others(109): Show 
HG00438.hp2
HG00639.hp1
HG00735.hp1
HG00735.hp2
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01515.hp2
HG01516.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01952.hp2
HG01978.hp1
HG02040.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02280.hp1
HG02300.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp2
HG04115.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18612.hp2
NA18940.hp2
NA18942.hp1
NA18944.hp1
NA18945.hp2
NA18948.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18975.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp2
NA19004.hp1
NA19009.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19074.hp2
NA19084.hp1
NA20129.hp1
NA20129.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-22833C>T
c.1893-22833C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36790118
chr21:36790202 A
A
 G
G
 2 a0001c0001t0008g0018
a0002c0002t0002g0143
a0001c0001t0008g0018
a0002c0002t0002g0143
 2 HG03239.hp1
NA19088.hp1
HG03239.hp1
NA19088.hp1
 intron_variant MODIFIER c.1893-22917T>C
c.1893-22917T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36790202
chr21:36790213 A
A
 G
G
 94 a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0043
others(91): Show 
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0043
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0072
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0166
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0086
a0001c0001t0005g0113
a0001c0001t0006g0019
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0008g0018
a0001c0001t0008g0084
a0001c0001t0010g0213
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0018g0189
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0022g0187
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0031g0057
a0001c0001t0033g0104
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0047g0188
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0069g0255
a0001c0001t0074g0087
a0001c0001t0076g0090
a0001c0001t0078g0108
a0001c0001t0080g0093
a0001c0001t0083g0013
a0001c0001t0087g0095
a0001c0001t0090g0005
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0105g0053
a0001c0001t0109g0119
a0001c0004t0004g0046
a0001c0004t0017g0224
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0015g0142
a0002c0002t0040g0242
a0002c0002t0045g0151
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0004c0019t0112g0258
a0007c0014t0070g0131
 94 HG00438.hp1
HG00639.hp2
HG00673.hp1
others(91): Show 
HG00438.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00741.hp1
HG01070.hp1
HG01081.hp2
HG01099.hp2
HG01123.hp2
HG01175.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01952.hp2
HG01981.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02145.hp1
HG02280.hp1
HG02300.hp1
HG02523.hp2
HG02559.hp2
HG02602.hp1
HG02647.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp2
HG03927.hp2
HG04204.hp2
NA18522.hp1
NA18612.hp1
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp2
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18951.hp1
NA18952.hp1
NA18959.hp1
NA18961.hp1
NA18970.hp2
NA18979.hp2
NA18984.hp2
NA18989.hp2
NA18993.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19043.hp2
NA19057.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA20129.hp1
 intron_variant MODIFIER c.1893-22928T>C
c.1893-22928T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36790213
chr21:36790216 C
C
 T
T
 1 a0001c0001t0003g0226
a0001c0001t0003g0226
 1 NA18984.hp1
NA18984.hp1
 intron_variant MODIFIER c.1893-22931G>A
c.1893-22931G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36790216
chr21:36790343 A
A
 G
G
 1 a0002c0002t0046g0150
a0002c0002t0046g0150
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.1893-23058T>C
c.1893-23058T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36790343
chr21:36790420 A
A
 C
C
 1 a0001c0001t0059g0180
a0001c0001t0059g0180
 1 HG01070.hp1
HG01070.hp1
 intron_variant MODIFIER c.1893-23135T>G
c.1893-23135T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36790420
chr21:36790517 A
A
 T
T
 97 a0001c0001t0001g0027
a0001c0001t0001g0122
a0001c0001t0001g0128
others(94): Show 
a0001c0001t0001g0027
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0227
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0022g0187
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0069g0255
a0001c0001t0084g0075
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0093g0133
a0001c0001t0098g0035
a0001c0001t0103g0100
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0004t0004g0046
a0001c0004t0042g0209
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0015t0052g0239
a0001c0017t0108g0082
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0040g0242
a0002c0002t0043g0152
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0006c0016t0001g0116
 97 HG00323.hp1
HG00438.hp2
HG00735.hp1
others(94): Show 
HG00323.hp1
HG00438.hp2
HG00735.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01361.hp2
HG01884.hp1
HG01952.hp2
HG01978.hp1
HG02040.hp1
HG02080.hp1
HG02083.hp1
HG02109.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp1
HG02300.hp2
HG02559.hp2
HG02615.hp1
HG02615.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp1
HG03490.hp2
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp1
HG03710.hp2
HG04115.hp2
HG04228.hp2
NA18612.hp2
NA18940.hp2
NA18942.hp1
NA18944.hp1
NA18945.hp2
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18975.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19074.hp2
NA19084.hp1
NA20129.hp1
NA20129.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-23232T>A
c.1893-23232T>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36790517
chr21:36790617 C
C
 T
T
 7 a0001c0001t0037g0254
a0001c0004t0068g0088
a0001c0006t0023g0212
others(4): Show 
a0001c0001t0037g0254
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
a0002c0002t0048g0144
a0002c0002t0064g0243
 7 HG02109.hp2
HG02145.hp1
HG03041.hp1
others(4): Show 
HG02109.hp2
HG02145.hp1
HG03041.hp1
HG03195.hp1
HG03195.hp2
HG03516.hp2
NA19043.hp2
 intron_variant MODIFIER c.1893-23332G>A
c.1893-23332G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36790617
chr21:36790631 T
T
 C
C
 1 a0002c0002t0046g0150
a0002c0002t0046g0150
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.1893-23346A>G
c.1893-23346A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36790631
chr21:36790683 G
G
 A
A
 1 a0004c0019t0112g0258
a0004c0019t0112g0258
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.1893-23398C>T
c.1893-23398C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36790683
chr21:36790958 T
T
 G
G
 1 a0001c0001t0001g0062
a0001c0001t0001g0062
 1 HG01975.hp2
HG01975.hp2
 intron_variant MODIFIER c.1893-23673A>C
c.1893-23673A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36790958
chr21:36791021 T
T
 C
C
 249 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(246): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 249 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(246): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-23736A>G
c.1893-23736A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36791021
chr21:36791074 T
T
 C
C
 29 a0001c0001t0006g0132
a0001c0001t0010g0213
a0001c0001t0015g0141
others(26): Show 
a0001c0001t0006g0132
a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0022g0187
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0031g0057
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0069g0255
a0001c0001t0085g0110
a0001c0001t0093g0133
a0001c0004t0004g0046
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
a0002c0002t0048g0144
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
 29 HG01099.hp2
HG01109.hp1
HG01257.hp2
others(26): Show 
HG01099.hp2
HG01109.hp1
HG01257.hp2
HG01258.hp1
HG01884.hp1
HG01952.hp2
HG02109.hp2
HG02145.hp1
HG02280.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03516.hp2
HG03579.hp1
HG06807.hp2
NA19043.hp2
NA20129.hp1
 intron_variant MODIFIER c.1893-23789A>G
c.1893-23789A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36791074
chr21:36791167 G
G
 A
A
 1 a0001c0001t0001g0077
a0001c0001t0001g0077
 1 NA18959.hp1
NA18959.hp1
 intron_variant MODIFIER c.1893-23882C>T
c.1893-23882C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36791167
chr21:36791169 C
C
 A
A
 1 a0003c0005t0092g0134
a0003c0005t0092g0134
 1 HG01175.hp2
HG01175.hp2
 intron_variant MODIFIER c.1893-23884G>T
c.1893-23884G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36791169
chr21:36791214 C
C
 T
T
 27 a0001c0001t0001g0027
a0001c0001t0001g0128
a0001c0001t0002g0158
others(24): Show 
a0001c0001t0001g0027
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0230
a0001c0001t0005g0052
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0013g0231
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0020g0002
a0001c0010t0011g0020
a0001c0015t0052g0239
a0002c0002t0013g0147
 27 HG01070.hp2
HG01071.hp2
HG01168.hp2
others(24): Show 
HG01070.hp2
HG01071.hp2
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG01978.hp1
HG02080.hp1
HG02300.hp2
HG02615.hp1
HG03139.hp2
HG03490.hp2
HG03669.hp2
HG03710.hp2
HG04115.hp2
HG04228.hp2
NA18944.hp1
NA18948.hp1
NA18951.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18993.hp2
NA19004.hp1
NA19009.hp2
NA19043.hp1
NA19068.hp2
NA19084.hp1
 intron_variant MODIFIER c.1893-23929G>A
c.1893-23929G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36791214
chr21:36791226 C
C
 T
T
 1 a0001c0001t0091g0042
a0001c0001t0091g0042
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.1893-23941G>A
c.1893-23941G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36791226
chr21:36791233 T
T
 C
C
 6 a0001c0001t0037g0254
a0001c0004t0068g0088
a0001c0006t0023g0212
others(3): Show 
a0001c0001t0037g0254
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
a0002c0002t0048g0144
 6 HG02109.hp2
HG02145.hp1
HG03195.hp1
others(3): Show 
HG02109.hp2
HG02145.hp1
HG03195.hp1
HG03195.hp2
HG03516.hp2
NA19043.hp2
 intron_variant MODIFIER c.1893-23948A>G
c.1893-23948A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36791233
chr21:36791258 A
A
 G
G
 29 a0001c0001t0001g0122
a0001c0001t0002g0174
a0001c0001t0002g0238
others(26): Show 
a0001c0001t0001g0122
a0001c0001t0002g0174
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0226
a0001c0001t0003g0244
a0001c0001t0005g0021
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0007g0227
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0013g0223
a0001c0001t0016g0106
a0001c0001t0020g0034
a0001c0001t0028g0167
a0001c0001t0035g0097
a0001c0001t0084g0075
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0098g0035
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0003t0003g0199
a0001c0004t0042g0209
a0006c0016t0001g0116
 29 HG00438.hp2
HG00735.hp1
HG01071.hp1
others(26): Show 
HG00438.hp2
HG00735.hp1
HG01071.hp1
HG01255.hp1
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01361.hp2
HG02040.hp1
HG02083.hp1
HG02135.hp1
HG03098.hp1
HG03225.hp1
HG03669.hp1
NA18612.hp2
NA18940.hp2
NA18942.hp1
NA18944.hp2
NA18945.hp2
NA18950.hp1
NA18952.hp2
NA18975.hp1
NA18984.hp1
NA18989.hp1
NA19004.hp2
NA19074.hp2
NA20129.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-23973T>C
c.1893-23973T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36791258
chr21:36791274 C
C
 T
T
 26 a0001c0001t0001g0027
a0001c0001t0001g0128
a0001c0001t0002g0158
others(23): Show 
a0001c0001t0001g0027
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0005g0052
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0013g0231
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0020g0002
a0001c0010t0011g0020
a0001c0015t0052g0239
a0002c0002t0013g0147
 26 HG01070.hp2
HG01071.hp2
HG01168.hp2
others(23): Show 
HG01070.hp2
HG01071.hp2
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG01978.hp1
HG02080.hp1
HG02300.hp2
HG02615.hp1
HG03139.hp2
HG03490.hp2
HG03669.hp2
HG03710.hp2
HG04115.hp2
NA18944.hp1
NA18948.hp1
NA18951.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18993.hp2
NA19004.hp1
NA19009.hp2
NA19043.hp1
NA19068.hp2
NA19084.hp1
 intron_variant MODIFIER c.1893-23989G>A
c.1893-23989G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36791274
chr21:36791365 T
T
 C
C
 1 a0001c0001t0006g0125
a0001c0001t0006g0125
 1 HG01123.hp1
HG01123.hp1
 intron_variant MODIFIER c.1893-24080A>G
c.1893-24080A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36791365
chr21:36791392 C
C
 T
T
 1 a0001c0001t0012g0234
a0001c0001t0012g0234
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.1893-24107G>A
c.1893-24107G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36791392
chr21:36791587 C
C
 T
T
 1 a0001c0001t0005g0094
a0001c0001t0005g0094
 1 NA18940.hp2
NA18940.hp2
 intron_variant MODIFIER c.1893-24302G>A
c.1893-24302G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36791587
chr21:36791656 T
T
 C
C
 25 a0001c0001t0006g0109
a0001c0001t0006g0132
a0001c0001t0010g0213
others(22): Show 
a0001c0001t0006g0109
a0001c0001t0006g0132
a0001c0001t0010g0213
a0001c0001t0013g0223
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0022g0187
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0038g0054
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0069g0255
a0001c0001t0085g0110
a0001c0001t0093g0133
a0001c0001t0105g0053
a0001c0004t0004g0046
a0001c0004t0068g0088
a0001c0004t0072g0248
a0003c0005t0002g0195
a0003c0005t0027g0218
 25 HG01099.hp2
HG01257.hp2
HG01258.hp1
others(22): Show 
HG01099.hp2
HG01257.hp2
HG01258.hp1
HG01884.hp1
HG01884.hp2
HG01975.hp1
HG02280.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03098.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03579.hp1
HG06807.hp2
NA20129.hp1
 intron_variant MODIFIER c.1893-24371A>G
c.1893-24371A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36791656
chr21:36791758 C
C
 T
T
 5 a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0004t0067g0067
others(2): Show 
a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0004t0067g0067
a0001c0018t0004g0060
a0002c0002t0025g0149
 5 HG01891.hp1
HG02559.hp1
HG02622.hp1
others(2): Show 
HG01891.hp1
HG02559.hp1
HG02622.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.1893-24473G>A
c.1893-24473G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36791758
chr21:36791759 G
G
 A
A
 1 a0001c0001t0001g0036
a0001c0001t0001g0036
 1 HG01978.hp2
HG01978.hp2
 intron_variant MODIFIER c.1893-24474C>T
c.1893-24474C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36791759
chr21:36791855 C
C
 T
T
 20 a0001c0001t0006g0256
a0001c0001t0018g0176
a0001c0001t0019g0061
others(17): Show 
a0001c0001t0006g0256
a0001c0001t0018g0176
a0001c0001t0019g0061
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0047g0188
a0001c0001t0073g0246
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0004t0067g0067
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0018t0004g0060
a0002c0002t0015g0142
a0002c0002t0025g0149
a0002c0002t0040g0242
a0002c0002t0043g0152
a0002c0002t0062g0145
 20 HG00323.hp1
HG01106.hp1
HG01109.hp1
others(17): Show 
HG00323.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01891.hp1
HG02257.hp1
HG02559.hp1
HG02559.hp2
HG02615.hp2
HG02622.hp1
HG02717.hp1
HG02723.hp1
HG02886.hp2
HG02895.hp2
HG03130.hp2
HG03209.hp2
HG03471.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.1893-24570G>A
c.1893-24570G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36791855
chr21:36791908 T
T
 C
C
 1 a0001c0001t0014g0241
a0001c0001t0014g0241
 1 HG00673.hp2
HG00673.hp2
 intron_variant MODIFIER c.1893-24623A>G
c.1893-24623A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36791908
chr21:36792129 C
C
 T
T
 12 a0001c0001t0006g0256
a0001c0001t0018g0176
a0001c0001t0030g0257
others(9): Show 
a0001c0001t0006g0256
a0001c0001t0018g0176
a0001c0001t0030g0257
a0001c0001t0047g0188
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0007t0007g0200
a0001c0007t0012g0207
a0002c0002t0015g0142
a0002c0002t0043g0152
a0003c0005t0058g0214
 12 HG00323.hp1
HG01106.hp1
HG01109.hp2
others(9): Show 
HG00323.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG02257.hp1
HG02615.hp2
HG02723.hp1
HG02886.hp2
HG02895.hp2
HG03130.hp2
HG03471.hp1
HG03540.hp2
 intron_variant MODIFIER c.1893-24844G>A
c.1893-24844G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36792129
chr21:36792188 C
C
 A
A
 2 a0002c0002t0018g0153
a0009c0009t0012g0196
a0002c0002t0018g0153
a0009c0009t0012g0196
 2 HG02647.hp1
NA18522.hp2
HG02647.hp1
NA18522.hp2
 intron_variant MODIFIER c.1893-24903G>T
c.1893-24903G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36792188
chr21:36792331 T
T
 C
C
 4 a0001c0001t0022g0187
a0001c0001t0056g0198
a0001c0001t0069g0255
others(1): Show 
a0001c0001t0022g0187
a0001c0001t0056g0198
a0001c0001t0069g0255
a0001c0001t0093g0133
 4 HG01099.hp2
HG01884.hp1
HG02809.hp2
others(1): Show 
HG01099.hp2
HG01884.hp1
HG02809.hp2
HG03209.hp1
 intron_variant MODIFIER c.1893-25046A>G
c.1893-25046A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36792331
chr21:36792419 C
C
 G
G
 5 a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0004t0067g0067
others(2): Show 
a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0004t0067g0067
a0001c0018t0004g0060
a0002c0002t0025g0149
 5 HG01891.hp1
HG02559.hp1
HG02622.hp1
others(2): Show 
HG01891.hp1
HG02559.hp1
HG02622.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.1893-25134G>C
c.1893-25134G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36792419
chr21:36792548 T
T
 C
C
 5 a0001c0001t0037g0254
a0001c0006t0023g0212
a0001c0006t0023g0222
others(2): Show 
a0001c0001t0037g0254
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
a0002c0002t0048g0144
 5 HG02109.hp2
HG02145.hp1
HG03195.hp1
others(2): Show 
HG02109.hp2
HG02145.hp1
HG03195.hp1
HG03516.hp2
NA19043.hp2
 intron_variant MODIFIER c.1893-25263A>G
c.1893-25263A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36792548
chr21:36792765 G
G
 A
A
 1 a0001c0001t0011g0118
a0001c0001t0011g0118
 1 NA18947.hp1
NA18947.hp1
 intron_variant MODIFIER c.1893-25480C>T
c.1893-25480C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36792765
chr21:36792821 G
G
 T
T
 1 a0001c0001t0099g0124
a0001c0001t0099g0124
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.1893-25536C>A
c.1893-25536C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36792821
chr21:36793001 C
C
 T
T
 28 a0001c0001t0001g0122
a0001c0001t0002g0174
a0001c0001t0002g0238
others(25): Show 
a0001c0001t0001g0122
a0001c0001t0002g0174
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0226
a0001c0001t0003g0244
a0001c0001t0005g0021
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0007g0227
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0013g0223
a0001c0001t0016g0106
a0001c0001t0020g0034
a0001c0001t0028g0167
a0001c0001t0035g0097
a0001c0001t0084g0075
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0098g0035
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0003t0003g0199
a0001c0004t0042g0209
a0006c0016t0001g0116
 28 HG00438.hp2
HG00735.hp1
HG01071.hp1
others(25): Show 
HG00438.hp2
HG00735.hp1
HG01071.hp1
HG01255.hp1
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01361.hp2
HG02040.hp1
HG02083.hp1
HG02135.hp1
HG03098.hp1
HG03225.hp1
HG03669.hp1
NA18612.hp2
NA18940.hp2
NA18942.hp1
NA18945.hp2
NA18950.hp1
NA18952.hp2
NA18975.hp1
NA18984.hp1
NA18989.hp1
NA19004.hp2
NA19074.hp2
NA20129.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-25716G>A
c.1893-25716G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36793001
chr21:36793055 C
C
 T
T
 7 a0001c0001t0004g0015
a0001c0001t0010g0249
a0001c0001t0012g0234
others(4): Show 
a0001c0001t0004g0015
a0001c0001t0010g0249
a0001c0001t0012g0234
a0001c0001t0030g0048
a0001c0001t0038g0102
a0001c0001t0075g0049
a0001c0001t0099g0124
 7 HG00741.hp2
HG01243.hp1
HG02109.hp1
others(4): Show 
HG00741.hp2
HG01243.hp1
HG02109.hp1
HG02572.hp2
HG02922.hp1
HG04204.hp1
NA19030.hp2
 intron_variant MODIFIER c.1893-25770G>A
c.1893-25770G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36793055
chr21:36793080 C
C
 T
T
 29 a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0027
others(26): Show 
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0027
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0230
a0001c0001t0005g0115
a0001c0001t0006g0012
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0013g0231
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0020g0002
a0001c0001t0057g0225
a0001c0010t0011g0020
a0001c0015t0052g0239
a0001c0018t0004g0060
 29 HG01070.hp2
HG01071.hp2
HG01168.hp2
others(26): Show 
HG01070.hp2
HG01071.hp2
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG01978.hp1
HG02080.hp1
HG02300.hp2
HG02523.hp1
HG02622.hp1
HG03490.hp2
HG03669.hp2
HG03710.hp2
HG04115.hp2
HG04228.hp2
NA18944.hp1
NA18948.hp1
NA18951.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18979.hp1
NA18993.hp2
NA19004.hp1
NA19009.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19084.hp1
 intron_variant MODIFIER c.1893-25795G>A
c.1893-25795G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36793080
chr21:36793206 C
C
 T
T
 1 a0001c0018t0004g0060
a0001c0018t0004g0060
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.1893-25921G>A
c.1893-25921G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36793206
chr21:36793211 C
C
 T
T
 6 a0001c0001t0037g0254
a0001c0004t0068g0088
a0001c0006t0023g0212
others(3): Show 
a0001c0001t0037g0254
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
a0002c0002t0048g0144
 6 HG02109.hp2
HG02145.hp1
HG03195.hp1
others(3): Show 
HG02109.hp2
HG02145.hp1
HG03195.hp1
HG03195.hp2
HG03516.hp2
NA19043.hp2
 intron_variant MODIFIER c.1893-25926G>A
c.1893-25926G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36793211
chr21:36793295 C
C
 CTT
CTT
 29 a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0027
others(26): Show 
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0027
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0230
a0001c0001t0005g0115
a0001c0001t0006g0012
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0013g0231
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0020g0002
a0001c0001t0057g0225
a0001c0010t0011g0020
a0001c0015t0052g0239
a0001c0018t0004g0060
 29 HG01070.hp2
HG01071.hp2
HG01168.hp2
others(26): Show 
HG01070.hp2
HG01071.hp2
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG01978.hp1
HG02080.hp1
HG02300.hp2
HG02523.hp1
HG02622.hp1
HG03490.hp2
HG03669.hp2
HG03710.hp2
HG04115.hp2
HG04228.hp2
NA18944.hp1
NA18948.hp1
NA18951.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18979.hp1
NA18993.hp2
NA19004.hp1
NA19009.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19084.hp1
 intron_variant MODIFIER c.1893-26012_1893-26
others(8): Show 
c.1893-26012_1893-26011dupAA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36793295
chr21:36793295 C
C
 CTTTTTTT
others(2): Show 
CTTTTTTTTT
 13 a0001c0001t0006g0256
a0001c0001t0018g0176
a0001c0001t0030g0257
others(10): Show 
a0001c0001t0006g0256
a0001c0001t0018g0176
a0001c0001t0030g0257
a0001c0001t0032g0081
a0001c0003t0007g0215
a0001c0003t0012g0205
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0002c0002t0043g0152
a0002c0002t0048g0144
a0005c0011t0033g0139
 13 HG00323.hp1
HG01106.hp1
HG01109.hp2
others(10): Show 
HG00323.hp1
HG01106.hp1
HG01109.hp2
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02615.hp2
HG02886.hp2
HG02976.hp2
HG03130.hp2
HG03471.hp1
HG03516.hp2
NA19043.hp2
 intron_variant MODIFIER c.1893-26019_1893-26
others(15): Show 
c.1893-26019_1893-26011dupAAAAAAAAA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36793295
chr21:36793295 C
C
 CTTTTTTT
others(3): Show 
CTTTTTTTTTT
 2 a0001c0001t0032g0111
a0001c0001t0037g0254
a0001c0001t0032g0111
a0001c0001t0037g0254
 2 HG02109.hp2
HG02145.hp2
HG02109.hp2
HG02145.hp2
 intron_variant MODIFIER c.1893-26020_1893-26
others(16): Show 
c.1893-26020_1893-26011dupAAAAAAAAAA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36793295
chr21:36793295 C
C
 CTTTTTTT
others(6): Show 
CTTTTTTTTTTTTT
 21 a0001c0001t0001g0122
a0001c0001t0002g0174
a0001c0001t0002g0238
others(18): Show 
a0001c0001t0001g0122
a0001c0001t0002g0174
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0226
a0001c0001t0003g0244
a0001c0001t0005g0021
a0001c0001t0005g0056
a0001c0001t0007g0227
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0013g0223
a0001c0001t0020g0034
a0001c0001t0028g0167
a0001c0001t0035g0097
a0001c0001t0088g0105
a0001c0003t0003g0199
a0001c0004t0042g0209
a0006c0016t0001g0116
 21 HG00735.hp1
HG01255.hp1
HG01256.hp2
others(18): Show 
HG00735.hp1
HG01255.hp1
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01361.hp2
HG02040.hp1
HG02083.hp1
HG03098.hp1
HG03225.hp1
HG03669.hp1
NA18612.hp2
NA18942.hp1
NA18950.hp1
NA18952.hp2
NA18984.hp1
NA18989.hp1
NA19004.hp2
NA19074.hp2
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.1893-26023_1893-26
others(19): Show 
c.1893-26023_1893-26011dupAAAAAAAAAAAAA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36793295
chr21:36793295 C
C
 CTTTTTTT
others(7): Show 
CTTTTTTTTTTTTTT
 6 a0001c0001t0005g0094
a0001c0001t0016g0106
a0001c0001t0089g0099
others(3): Show 
a0001c0001t0005g0094
a0001c0001t0016g0106
a0001c0001t0089g0099
a0001c0001t0098g0035
a0001c0001t0102g0063
a0001c0001t0103g0100
 6 HG00438.hp2
HG01071.hp1
HG02135.hp1
others(3): Show 
HG00438.hp2
HG01071.hp1
HG02135.hp1
NA18940.hp2
NA18945.hp2
NA18975.hp1
 intron_variant MODIFIER c.1893-26024_1893-26
others(20): Show 
c.1893-26024_1893-26011dupAAAAAAAAAAAAAA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36793295
chr21:36793295 C
C
 CTTTTTTT
others(8): Show 
CTTTTTTTTTTTTTTT
 1 a0001c0001t0084g0075
a0001c0001t0084g0075
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-26025_1893-26
others(21): Show 
c.1893-26025_1893-26011dupAAAAAAAAAAAAAAA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36793295
chr21:36793295 C
C
 CTTTTTTT
others(16): Show 
CTTTTTTTTTTTTTTTTTTTTTTT
 2 a0001c0004t0067g0067
a0002c0002t0025g0149
a0001c0004t0067g0067
a0002c0002t0025g0149
 2 HG01891.hp1
HG06807.hp1
HG01891.hp1
HG06807.hp1
 intron_variant MODIFIER c.1893-26011_1893-26
others(29): Show 
c.1893-26011_1893-26010insAAAAAAAAAAAAAAAAAAAAAAA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36793295
chr21:36793295 C
C
 CTTTTTTT
others(17): Show 
CTTTTTTTTTTTTTTTTTTTTTTTT
 2 a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0001t0031g0245
a0001c0001t0073g0246
 2 HG02559.hp1
HG03516.hp1
HG02559.hp1
HG03516.hp1
 intron_variant MODIFIER c.1893-26011_1893-26
others(30): Show 
c.1893-26011_1893-26010insAAAAAAAAAAAAAAAAAAAAAAAA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36793295
chr21:36793442 C
C
 T
T
 29 a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0027
others(26): Show 
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0027
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0230
a0001c0001t0005g0115
a0001c0001t0006g0012
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0013g0231
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0020g0002
a0001c0001t0057g0225
a0001c0010t0011g0020
a0001c0015t0052g0239
a0001c0018t0004g0060
 29 HG01070.hp2
HG01071.hp2
HG01168.hp2
others(26): Show 
HG01070.hp2
HG01071.hp2
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG01978.hp1
HG02080.hp1
HG02300.hp2
HG02523.hp1
HG02622.hp1
HG03490.hp2
HG03669.hp2
HG03710.hp2
HG04115.hp2
HG04228.hp2
NA18944.hp1
NA18948.hp1
NA18951.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18979.hp1
NA18993.hp2
NA19004.hp1
NA19009.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19084.hp1
 intron_variant MODIFIER c.1893-26157G>A
c.1893-26157G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36793442
chr21:36793528 C
C
 T
T
 188 a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
others(185): Show 
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0066
a0001c0001t0001g0072
a0001c0001t0001g0077
a0001c0001t0001g0092
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0091
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0022g0187
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0047g0188
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0078g0108
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0093g0133
a0001c0001t0095g0117
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0009c0009t0012g0196
 188 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(185): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00639.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01361.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18975.hp1
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-26243G>A
c.1893-26243G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36793528
chr21:36793590 G
G
 A
A
 5 a0001c0001t0005g0003
a0001c0001t0011g0022
a0001c0001t0011g0103
others(2): Show 
a0001c0001t0005g0003
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0079g0026
a0001c0001t0110g0023
 5 NA18945.hp1
NA18968.hp1
NA18971.hp1
others(2): Show 
NA18945.hp1
NA18968.hp1
NA18971.hp1
NA18975.hp2
NA18977.hp1
 intron_variant MODIFIER c.1893-26305C>T
c.1893-26305C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36793590
chr21:36793711 T
T
 C
C
 2 a0001c0001t0008g0018
a0002c0002t0002g0155
a0001c0001t0008g0018
a0002c0002t0002g0155
 2 HG02602.hp1
HG03239.hp1
HG02602.hp1
HG03239.hp1
 intron_variant MODIFIER c.1893-26426A>G
c.1893-26426A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36793711
chr21:36793916 T
T
 C
C
 3 a0001c0001t0001g0074
a0001c0001t0004g0032
a0001c0001t0100g0073
a0001c0001t0001g0074
a0001c0001t0004g0032
a0001c0001t0100g0073
 3 HG00280.hp1
HG01169.hp2
HG01515.hp1
HG00280.hp1
HG01169.hp2
HG01515.hp1
 intron_variant MODIFIER c.1893-26631A>G
c.1893-26631A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36793916
chr21:36793934 A
A
 T
T
 51 a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0027
others(48): Show 
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0027
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0230
a0001c0001t0005g0115
a0001c0001t0006g0012
a0001c0001t0006g0256
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0013g0231
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0018g0176
a0001c0001t0020g0002
a0001c0001t0030g0257
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0037g0254
a0001c0001t0057g0225
a0001c0001t0073g0246
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0025g0149
a0002c0002t0043g0152
a0002c0002t0048g0144
a0005c0011t0033g0139
 51 HG00323.hp1
HG01070.hp2
HG01071.hp2
others(48): Show 
HG00323.hp1
HG01070.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG01891.hp1
HG01978.hp1
HG02080.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02300.hp2
HG02523.hp1
HG02559.hp1
HG02615.hp2
HG02622.hp1
HG02886.hp2
HG02976.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03471.hp1
HG03490.hp2
HG03516.hp1
HG03516.hp2
HG03669.hp2
HG03710.hp2
HG04115.hp2
HG04228.hp2
HG06807.hp1
NA18944.hp1
NA18948.hp1
NA18951.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18979.hp1
NA18993.hp2
NA19004.hp1
NA19009.hp2
NA19043.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19084.hp1
 intron_variant MODIFIER c.1893-26649T>A
c.1893-26649T>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36793934
chr21:36794539 T
T
 C
C
 4 a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0004t0067g0067
others(1): Show 
a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0004t0067g0067
a0002c0002t0025g0149
 4 HG01891.hp1
HG02559.hp1
HG03516.hp1
others(1): Show 
HG01891.hp1
HG02559.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.1893-27254A>G
c.1893-27254A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36794539
chr21:36794559 G
G
 T
T
 28 a0001c0001t0001g0122
a0001c0001t0002g0174
a0001c0001t0002g0238
others(25): Show 
a0001c0001t0001g0122
a0001c0001t0002g0174
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0226
a0001c0001t0003g0244
a0001c0001t0005g0021
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0007g0227
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0013g0223
a0001c0001t0016g0106
a0001c0001t0020g0034
a0001c0001t0028g0167
a0001c0001t0035g0097
a0001c0001t0084g0075
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0098g0035
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0003t0003g0199
a0001c0004t0042g0209
a0006c0016t0001g0116
 28 HG00438.hp2
HG00735.hp1
HG01071.hp1
others(25): Show 
HG00438.hp2
HG00735.hp1
HG01071.hp1
HG01255.hp1
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01361.hp2
HG02040.hp1
HG02083.hp1
HG02135.hp1
HG03098.hp1
HG03225.hp1
HG03669.hp1
NA18612.hp2
NA18940.hp2
NA18942.hp1
NA18945.hp2
NA18950.hp1
NA18952.hp2
NA18975.hp1
NA18984.hp1
NA18989.hp1
NA19004.hp2
NA19074.hp2
NA20129.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-27274C>A
c.1893-27274C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36794559
chr21:36794667 G
G
 C
C
 29 a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0027
others(26): Show 
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0027
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0230
a0001c0001t0005g0115
a0001c0001t0006g0012
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0013g0231
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0020g0002
a0001c0001t0057g0225
a0001c0010t0011g0020
a0001c0015t0052g0239
a0001c0018t0004g0060
 29 HG01070.hp2
HG01071.hp2
HG01168.hp2
others(26): Show 
HG01070.hp2
HG01071.hp2
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG01978.hp1
HG02080.hp1
HG02300.hp2
HG02523.hp1
HG02622.hp1
HG03490.hp2
HG03669.hp2
HG03710.hp2
HG04115.hp2
HG04228.hp2
NA18944.hp1
NA18948.hp1
NA18951.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18979.hp1
NA18993.hp2
NA19004.hp1
NA19009.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19084.hp1
 intron_variant MODIFIER c.1893-27382C>G
c.1893-27382C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36794667
chr21:36794776 A
A
 C
C
 10 a0001c0001t0031g0245
a0001c0001t0037g0254
a0001c0001t0073g0246
others(7): Show 
a0001c0001t0031g0245
a0001c0001t0037g0254
a0001c0001t0073g0246
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
a0002c0002t0025g0149
a0002c0002t0048g0144
 10 HG01891.hp1
HG02109.hp2
HG02145.hp1
others(7): Show 
HG01891.hp1
HG02109.hp2
HG02145.hp1
HG02559.hp1
HG03195.hp1
HG03195.hp2
HG03516.hp1
HG03516.hp2
HG06807.hp1
NA19043.hp2
 intron_variant MODIFIER c.1893-27491T>G
c.1893-27491T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36794776
chr21:36794830 A
A
 G
G
 1 a0001c0001t0005g0052
a0001c0001t0005g0052
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.1893-27545T>C
c.1893-27545T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36794830
chr21:36794884 A
A
 C
C
 6 a0001c0001t0037g0254
a0001c0004t0068g0088
a0001c0006t0023g0212
others(3): Show 
a0001c0001t0037g0254
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
a0002c0002t0048g0144
 6 HG02109.hp2
HG02145.hp1
HG03195.hp1
others(3): Show 
HG02109.hp2
HG02145.hp1
HG03195.hp1
HG03195.hp2
HG03516.hp2
NA19043.hp2
 intron_variant MODIFIER c.1893-27599T>G
c.1893-27599T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36794884
chr21:36794972 C
C
 A
A
 1 a0001c0001t0089g0099
a0001c0001t0089g0099
 1 HG01071.hp1
HG01071.hp1
 intron_variant MODIFIER c.1893-27687G>T
c.1893-27687G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36794972
chr21:36795067 C
C
 A
A
 1 a0001c0001t0001g0062
a0001c0001t0001g0062
 1 HG01975.hp2
HG01975.hp2
 intron_variant MODIFIER c.1893-27782G>T
c.1893-27782G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36795067
chr21:36795068 A
A
 G
G
 1 a0001c0001t0001g0062
a0001c0001t0001g0062
 1 HG01975.hp2
HG01975.hp2
 intron_variant MODIFIER c.1893-27783T>C
c.1893-27783T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36795068
chr21:36795089 C
C
 T
T
 197 a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
others(194): Show 
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0037
a0001c0001t0001g0043
a0001c0001t0001g0066
a0001c0001t0001g0072
a0001c0001t0001g0077
a0001c0001t0001g0092
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0091
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0078g0108
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0093g0133
a0001c0001t0095g0117
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0009c0009t0012g0196
 197 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(194): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00639.hp1
HG00673.hp1
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01361.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
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.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18975.hp1
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-27804G>A
c.1893-27804G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36795089
chr21:36795270 C
C
 T
T
 3 a0001c0001t0012g0234
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0012g0234
a0001c0001t0032g0081
a0001c0001t0032g0111
 3 HG02145.hp2
HG02257.hp2
HG04204.hp1
HG02145.hp2
HG02257.hp2
HG04204.hp1
 intron_variant MODIFIER c.1893-27985G>A
c.1893-27985G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36795270
chr21:36795271 G
G
 T
T
 1 a0001c0001t0001g0120
a0001c0001t0001g0120
 1 HG02083.hp2
HG02083.hp2
 intron_variant MODIFIER c.1893-27986C>A
c.1893-27986C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36795271
chr21:36795452 AG
AG
 A
A
 29 a0001c0001t0001g0122
a0001c0001t0002g0174
a0001c0001t0002g0238
others(26): Show 
a0001c0001t0001g0122
a0001c0001t0002g0174
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0226
a0001c0001t0003g0244
a0001c0001t0005g0021
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0007g0227
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0013g0223
a0001c0001t0016g0106
a0001c0001t0020g0034
a0001c0001t0028g0167
a0001c0001t0035g0097
a0001c0001t0084g0075
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0098g0035
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0003t0003g0199
a0001c0004t0042g0209
a0001c0004t0072g0248
a0006c0016t0001g0116
 29 HG00438.hp2
HG00735.hp1
HG01071.hp1
others(26): Show 
HG00438.hp2
HG00735.hp1
HG01071.hp1
HG01255.hp1
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01361.hp2
HG02040.hp1
HG02083.hp1
HG02135.hp1
HG03098.hp1
HG03225.hp1
HG03471.hp2
HG03669.hp1
NA18612.hp2
NA18940.hp2
NA18942.hp1
NA18945.hp2
NA18950.hp1
NA18952.hp2
NA18975.hp1
NA18984.hp1
NA18989.hp1
NA19004.hp2
NA19074.hp2
NA20129.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-28168delC
c.1893-28168delC
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36795452
chr21:36795612 C
C
 A
A
 2 a0001c0001t0002g0174
a0001c0003t0003g0199
a0001c0001t0002g0174
a0001c0003t0003g0199
 2 HG03669.hp1
NA20805.hp2
HG03669.hp1
NA20805.hp2
 intron_variant MODIFIER c.1893-28327G>T
c.1893-28327G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36795612
chr21:36795651 C
C
 T
T
 19 a0001c0001t0006g0132
a0001c0001t0010g0213
a0001c0001t0015g0141
others(16): Show 
a0001c0001t0006g0132
a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0022g0187
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0038g0054
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0069g0255
a0001c0001t0085g0110
a0001c0001t0093g0133
a0001c0004t0004g0046
a0003c0005t0002g0195
a0003c0005t0027g0218
 19 HG01099.hp2
HG01257.hp2
HG01258.hp1
others(16): Show 
HG01099.hp2
HG01257.hp2
HG01258.hp1
HG01884.hp1
HG02280.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03209.hp1
HG03453.hp1
HG03579.hp1
HG06807.hp2
NA20129.hp1
 intron_variant MODIFIER c.1893-28366G>A
c.1893-28366G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36795651
chr21:36795854 C
C
 T
T
 1 a0001c0001t0019g0101
a0001c0001t0019g0101
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.1893-28569G>A
c.1893-28569G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36795854
chr21:36795905 T
T
 C
C
 6 a0001c0001t0037g0254
a0001c0004t0068g0088
a0001c0006t0023g0212
others(3): Show 
a0001c0001t0037g0254
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
a0002c0002t0048g0144
 6 HG02109.hp2
HG02145.hp1
HG03195.hp1
others(3): Show 
HG02109.hp2
HG02145.hp1
HG03195.hp1
HG03195.hp2
HG03516.hp2
NA19043.hp2
 intron_variant MODIFIER c.1893-28620A>G
c.1893-28620A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36795905
chr21:36795995 A
A
 C
C
 80 a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0027
others(77): Show 
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0027
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0005g0021
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0005g0115
a0001c0001t0006g0012
a0001c0001t0006g0256
a0001c0001t0007g0227
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0028g0167
a0001c0001t0030g0257
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0057g0225
a0001c0001t0073g0246
a0001c0001t0084g0075
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0098g0035
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0025g0149
a0002c0002t0043g0152
a0002c0002t0048g0144
a0005c0011t0033g0139
a0006c0016t0001g0116
 80 HG00323.hp1
HG00438.hp2
HG00735.hp1
others(77): Show 
HG00323.hp1
HG00438.hp2
HG00735.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG01255.hp1
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01361.hp2
HG01891.hp1
HG01978.hp1
HG02040.hp1
HG02080.hp1
HG02083.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02300.hp2
HG02523.hp1
HG02559.hp1
HG02615.hp2
HG02622.hp1
HG02886.hp2
HG02976.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03516.hp1
HG03516.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp2
HG04115.hp2
HG04228.hp2
HG06807.hp1
NA18612.hp2
NA18940.hp2
NA18942.hp1
NA18944.hp1
NA18945.hp2
NA18948.hp1
NA18950.hp1
NA18951.hp2
NA18952.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18975.hp1
NA18979.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp2
NA19043.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA20129.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-28710T>G
c.1893-28710T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36795995
chr21:36796098 G
G
 A
A
 29 a0001c0001t0001g0122
a0001c0001t0002g0174
a0001c0001t0002g0238
others(26): Show 
a0001c0001t0001g0122
a0001c0001t0002g0174
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0226
a0001c0001t0003g0244
a0001c0001t0005g0021
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0007g0227
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0013g0223
a0001c0001t0016g0106
a0001c0001t0020g0034
a0001c0001t0028g0167
a0001c0001t0035g0097
a0001c0001t0084g0075
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0098g0035
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0003t0003g0199
a0001c0004t0042g0209
a0001c0004t0072g0248
a0006c0016t0001g0116
 29 HG00438.hp2
HG00735.hp1
HG01071.hp1
others(26): Show 
HG00438.hp2
HG00735.hp1
HG01071.hp1
HG01255.hp1
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01361.hp2
HG02040.hp1
HG02083.hp1
HG02135.hp1
HG03098.hp1
HG03225.hp1
HG03471.hp2
HG03669.hp1
NA18612.hp2
NA18940.hp2
NA18942.hp1
NA18945.hp2
NA18950.hp1
NA18952.hp2
NA18975.hp1
NA18984.hp1
NA18989.hp1
NA19004.hp2
NA19074.hp2
NA20129.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-28813C>T
c.1893-28813C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36796098
chr21:36796145 T
T
 C
C
 3 a0001c0001t0001g0074
a0001c0001t0004g0032
a0001c0001t0100g0073
a0001c0001t0001g0074
a0001c0001t0004g0032
a0001c0001t0100g0073
 3 HG00280.hp1
HG01169.hp2
HG01515.hp1
HG00280.hp1
HG01169.hp2
HG01515.hp1
 intron_variant MODIFIER c.1893-28860A>G
c.1893-28860A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36796145
chr21:36796368 T
T
 C
C
 4 a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0004t0067g0067
others(1): Show 
a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0004t0067g0067
a0002c0002t0025g0149
 4 HG01891.hp1
HG02559.hp1
HG03516.hp1
others(1): Show 
HG01891.hp1
HG02559.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.1893-29083A>G
c.1893-29083A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36796368
chr21:36796448 T
T
 C
C
 247 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(244): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 247 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(244): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
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.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-29163A>G
c.1893-29163A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36796448
chr21:36796868 CT
CT
 C
C
 75 a0001c0001t0001g0017
a0001c0001t0001g0027
a0001c0001t0001g0122
others(72): Show 
a0001c0001t0001g0017
a0001c0001t0001g0027
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0005g0021
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0005g0115
a0001c0001t0006g0012
a0001c0001t0006g0256
a0001c0001t0007g0227
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0028g0167
a0001c0001t0030g0257
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0057g0225
a0001c0001t0084g0075
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0098g0035
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0004t0042g0209
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0043g0152
a0002c0002t0048g0144
a0005c0011t0033g0139
a0006c0016t0001g0116
 75 HG00323.hp1
HG00438.hp2
HG00735.hp1
others(72): Show 
HG00323.hp1
HG00438.hp2
HG00735.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG01255.hp1
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01361.hp2
HG01978.hp1
HG02040.hp1
HG02080.hp1
HG02083.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02300.hp2
HG02615.hp2
HG02622.hp1
HG02886.hp2
HG02976.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03516.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp2
HG04115.hp2
HG04228.hp2
NA18612.hp2
NA18940.hp2
NA18942.hp1
NA18944.hp1
NA18945.hp2
NA18948.hp1
NA18950.hp1
NA18951.hp2
NA18952.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18975.hp1
NA18979.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp2
NA19043.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA20129.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-29584delA
c.1893-29584delA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36796868
chr21:36796899 C
C
 T
T
 1 a0001c0001t0086g0044
a0001c0001t0086g0044
 1 NA18961.hp2
NA18961.hp2
 intron_variant MODIFIER c.1893-29614G>A
c.1893-29614G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36796899
chr21:36796942 C
C
 T
T
 29 a0001c0001t0001g0122
a0001c0001t0002g0174
a0001c0001t0002g0238
others(26): Show 
a0001c0001t0001g0122
a0001c0001t0002g0174
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0226
a0001c0001t0003g0244
a0001c0001t0005g0021
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0007g0227
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0013g0223
a0001c0001t0016g0106
a0001c0001t0020g0034
a0001c0001t0028g0167
a0001c0001t0035g0097
a0001c0001t0084g0075
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0098g0035
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0003t0003g0199
a0001c0004t0042g0209
a0001c0004t0072g0248
a0006c0016t0001g0116
 29 HG00438.hp2
HG00735.hp1
HG01071.hp1
others(26): Show 
HG00438.hp2
HG00735.hp1
HG01071.hp1
HG01255.hp1
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01361.hp2
HG02040.hp1
HG02083.hp1
HG02135.hp1
HG03098.hp1
HG03225.hp1
HG03471.hp2
HG03669.hp1
NA18612.hp2
NA18940.hp2
NA18942.hp1
NA18945.hp2
NA18950.hp1
NA18952.hp2
NA18975.hp1
NA18984.hp1
NA18989.hp1
NA19004.hp2
NA19074.hp2
NA20129.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-29657G>A
c.1893-29657G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36796942
chr21:36797028 G
G
 A
A
 1 a0001c0001t0008g0084
a0001c0001t0008g0084
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.1893-29743C>T
c.1893-29743C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36797028
chr21:36797079 C
C
 T
T
 1 a0001c0003t0007g0210
a0001c0003t0007g0210
 1 NA20805.hp1
NA20805.hp1
 intron_variant MODIFIER c.1893-29794G>A
c.1893-29794G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36797079
chr21:36797114 G
G
 A
A
 4 a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0004t0067g0067
others(1): Show 
a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0004t0067g0067
a0002c0002t0025g0149
 4 HG01891.hp1
HG02559.hp1
HG03516.hp1
others(1): Show 
HG01891.hp1
HG02559.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.1893-29829C>T
c.1893-29829C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36797114
chr21:36797185 C
C
 T
T
 12 a0001c0001t0006g0256
a0001c0001t0018g0176
a0001c0001t0030g0257
others(9): Show 
a0001c0001t0006g0256
a0001c0001t0018g0176
a0001c0001t0030g0257
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0007t0007g0200
a0001c0007t0012g0207
a0002c0002t0043g0152
a0005c0011t0033g0139
 12 HG00323.hp1
HG01106.hp1
HG01109.hp2
others(9): Show 
HG00323.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02615.hp2
HG02886.hp2
HG02976.hp2
HG03130.hp2
HG03471.hp1
 intron_variant MODIFIER c.1893-29900G>A
c.1893-29900G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36797185
chr21:36797291 G
G
 C
C
 4 a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0004t0067g0067
others(1): Show 
a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0004t0067g0067
a0002c0002t0025g0149
 4 HG01891.hp1
HG02559.hp1
HG03516.hp1
others(1): Show 
HG01891.hp1
HG02559.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.1893-30006C>G
c.1893-30006C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36797291
chr21:36797539 T
T
 C
C
 28 a0001c0001t0001g0017
a0001c0001t0001g0027
a0001c0001t0001g0128
others(25): Show 
a0001c0001t0001g0017
a0001c0001t0001g0027
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0230
a0001c0001t0005g0115
a0001c0001t0006g0012
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0013g0231
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0020g0002
a0001c0001t0057g0225
a0001c0010t0011g0020
a0001c0015t0052g0239
a0001c0018t0004g0060
 28 HG01070.hp2
HG01071.hp2
HG01168.hp2
others(25): Show 
HG01070.hp2
HG01071.hp2
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG01978.hp1
HG02080.hp1
HG02300.hp2
HG02622.hp1
HG03490.hp2
HG03669.hp2
HG03710.hp2
HG04115.hp2
HG04228.hp2
NA18944.hp1
NA18948.hp1
NA18951.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18979.hp1
NA18993.hp2
NA19004.hp1
NA19009.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19084.hp1
 intron_variant MODIFIER c.1893-30254A>G
c.1893-30254A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36797539
chr21:36797727 G
G
 A
A
 3 a0001c0001t0019g0061
a0001c0001t0031g0057
a0002c0002t0045g0151
a0001c0001t0019g0061
a0001c0001t0031g0057
a0002c0002t0045g0151
 3 HG01109.hp1
HG02717.hp1
NA18522.hp1
HG01109.hp1
HG02717.hp1
NA18522.hp1
 intron_variant MODIFIER c.1893-30442C>T
c.1893-30442C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36797727
chr21:36797732 C
C
 T
T
 6 a0001c0001t0037g0254
a0001c0004t0068g0088
a0001c0006t0023g0212
others(3): Show 
a0001c0001t0037g0254
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
a0002c0002t0048g0144
 6 HG02109.hp2
HG02145.hp1
HG03195.hp1
others(3): Show 
HG02109.hp2
HG02145.hp1
HG03195.hp1
HG03195.hp2
HG03516.hp2
NA19043.hp2
 intron_variant MODIFIER c.1893-30447G>A
c.1893-30447G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36797732
chr21:36797941 C
C
 A
A
 3 a0001c0001t0021g0130
a0001c0003t0003g0204
a0008c0012t0035g0069
a0001c0001t0021g0130
a0001c0003t0003g0204
a0008c0012t0035g0069
 3 HG02027.hp2
NA18940.hp1
NA18971.hp2
HG02027.hp2
NA18940.hp1
NA18971.hp2
 intron_variant MODIFIER c.1893-30656G>T
c.1893-30656G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36797941
chr21:36798015 GAGA
GAGA
 G
G
 3 a0001c0001t0001g0062
a0001c0001t0006g0125
a0001c0001t0007g0194
a0001c0001t0001g0062
a0001c0001t0006g0125
a0001c0001t0007g0194
 3 HG01123.hp1
HG01975.hp2
HG03831.hp2
HG01123.hp1
HG01975.hp2
HG03831.hp2
 intron_variant MODIFIER c.1893-30733_1893-30
others(9): Show 
c.1893-30733_1893-30731delTCT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36798015
chr21:36798073 C
C
 T
T
 3 a0001c0001t0006g0109
a0001c0001t0066g0059
a0002c0002t0041g0148
a0001c0001t0006g0109
a0001c0001t0066g0059
a0002c0002t0041g0148
 3 HG00639.hp1
HG01106.hp2
HG01975.hp1
HG00639.hp1
HG01106.hp2
HG01975.hp1
 intron_variant MODIFIER c.1893-30788G>A
c.1893-30788G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36798073
chr21:36798081 T
T
 C
C
 5 a0001c0001t0019g0061
a0001c0001t0031g0057
a0002c0002t0040g0242
others(2): Show 
a0001c0001t0019g0061
a0001c0001t0031g0057
a0002c0002t0040g0242
a0002c0002t0045g0151
a0002c0002t0062g0145
 5 HG01109.hp1
HG02559.hp2
HG02717.hp1
others(2): Show 
HG01109.hp1
HG02559.hp2
HG02717.hp1
HG03209.hp2
NA18522.hp1
 intron_variant MODIFIER c.1893-30796A>G
c.1893-30796A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36798081
chr21:36798101 C
C
 T
T
 1 a0001c0001t0002g0165
a0001c0001t0002g0165
 1 HG01978.hp1
HG01978.hp1
 intron_variant MODIFIER c.1893-30816G>A
c.1893-30816G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36798101
chr21:36798134 G
G
 A
A
 28 a0001c0001t0001g0122
a0001c0001t0002g0174
a0001c0001t0002g0238
others(25): Show 
a0001c0001t0001g0122
a0001c0001t0002g0174
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0226
a0001c0001t0003g0244
a0001c0001t0005g0021
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0007g0227
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0013g0223
a0001c0001t0016g0106
a0001c0001t0020g0034
a0001c0001t0028g0167
a0001c0001t0035g0097
a0001c0001t0084g0075
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0098g0035
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0003t0003g0199
a0001c0004t0042g0209
a0006c0016t0001g0116
 28 HG00438.hp2
HG00735.hp1
HG01071.hp1
others(25): Show 
HG00438.hp2
HG00735.hp1
HG01071.hp1
HG01255.hp1
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01361.hp2
HG02040.hp1
HG02083.hp1
HG02135.hp1
HG03098.hp1
HG03225.hp1
HG03669.hp1
NA18612.hp2
NA18940.hp2
NA18942.hp1
NA18945.hp2
NA18950.hp1
NA18952.hp2
NA18975.hp1
NA18984.hp1
NA18989.hp1
NA19004.hp2
NA19074.hp2
NA20129.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-30849C>T
c.1893-30849C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36798134
chr21:36798165 C
C
 T
T
 1 a0001c0001t0003g0226
a0001c0001t0003g0226
 1 NA18984.hp1
NA18984.hp1
 intron_variant MODIFIER c.1893-30880G>A
c.1893-30880G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36798165
chr21:36798178 A
A
 G
G
 80 a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0027
others(77): Show 
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0027
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0005g0021
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0005g0115
a0001c0001t0006g0012
a0001c0001t0006g0256
a0001c0001t0007g0227
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0028g0167
a0001c0001t0030g0257
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0057g0225
a0001c0001t0073g0246
a0001c0001t0084g0075
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0098g0035
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0025g0149
a0002c0002t0043g0152
a0002c0002t0048g0144
a0005c0011t0033g0139
a0006c0016t0001g0116
 80 HG00323.hp1
HG00438.hp2
HG00735.hp1
others(77): Show 
HG00323.hp1
HG00438.hp2
HG00735.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG01255.hp1
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01361.hp2
HG01891.hp1
HG01978.hp1
HG02040.hp1
HG02080.hp1
HG02083.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02300.hp2
HG02523.hp1
HG02559.hp1
HG02615.hp2
HG02622.hp1
HG02886.hp2
HG02976.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03516.hp1
HG03516.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp2
HG04115.hp2
HG04228.hp2
HG06807.hp1
NA18612.hp2
NA18940.hp2
NA18942.hp1
NA18944.hp1
NA18945.hp2
NA18948.hp1
NA18950.hp1
NA18951.hp2
NA18952.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18975.hp1
NA18979.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp2
NA19043.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA20129.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-30893T>C
c.1893-30893T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36798178
chr21:36798395 G
G
 A
A
 6 a0001c0001t0037g0254
a0001c0004t0068g0088
a0001c0006t0023g0212
others(3): Show 
a0001c0001t0037g0254
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
a0002c0002t0048g0144
 6 HG02109.hp2
HG02145.hp1
HG03195.hp1
others(3): Show 
HG02109.hp2
HG02145.hp1
HG03195.hp1
HG03195.hp2
HG03516.hp2
NA19043.hp2
 intron_variant MODIFIER c.1893-31110C>T
c.1893-31110C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36798395
chr21:36798437 T
T
 C
C
 1 a0001c0001t0003g0228
a0001c0001t0003g0228
 1 NA18950.hp2
NA18950.hp2
 intron_variant MODIFIER c.1893-31152A>G
c.1893-31152A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36798437
chr21:36798452 T
T
 C
C
 3 a0001c0001t0019g0061
a0001c0001t0031g0057
a0002c0002t0045g0151
a0001c0001t0019g0061
a0001c0001t0031g0057
a0002c0002t0045g0151
 3 HG01109.hp1
HG02717.hp1
NA18522.hp1
HG01109.hp1
HG02717.hp1
NA18522.hp1
 intron_variant MODIFIER c.1893-31167A>G
c.1893-31167A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36798452
chr21:36798535 C
C
 T
T
 1 a0001c0001t0018g0189
a0001c0001t0018g0189
 1 HG01952.hp2
HG01952.hp2
 intron_variant MODIFIER c.1893-31250G>A
c.1893-31250G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36798535
chr21:36798658 A
A
 G
G
 29 a0001c0001t0001g0122
a0001c0001t0002g0174
a0001c0001t0002g0238
others(26): Show 
a0001c0001t0001g0122
a0001c0001t0002g0174
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0226
a0001c0001t0003g0244
a0001c0001t0005g0021
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0007g0227
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0013g0223
a0001c0001t0016g0106
a0001c0001t0020g0034
a0001c0001t0028g0167
a0001c0001t0035g0097
a0001c0001t0084g0075
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0098g0035
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0003t0003g0199
a0001c0004t0042g0209
a0001c0004t0072g0248
a0006c0016t0001g0116
 29 HG00438.hp2
HG00735.hp1
HG01071.hp1
others(26): Show 
HG00438.hp2
HG00735.hp1
HG01071.hp1
HG01255.hp1
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01361.hp2
HG02040.hp1
HG02083.hp1
HG02135.hp1
HG03098.hp1
HG03225.hp1
HG03471.hp2
HG03669.hp1
NA18612.hp2
NA18940.hp2
NA18942.hp1
NA18945.hp2
NA18950.hp1
NA18952.hp2
NA18975.hp1
NA18984.hp1
NA18989.hp1
NA19004.hp2
NA19074.hp2
NA20129.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-31373T>C
c.1893-31373T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36798658
chr21:36798861 G
G
 A
A
 28 a0001c0001t0001g0017
a0001c0001t0001g0027
a0001c0001t0001g0128
others(25): Show 
a0001c0001t0001g0017
a0001c0001t0001g0027
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0230
a0001c0001t0005g0115
a0001c0001t0006g0012
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0013g0231
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0020g0002
a0001c0001t0057g0225
a0001c0010t0011g0020
a0001c0015t0052g0239
a0001c0018t0004g0060
 28 HG01070.hp2
HG01071.hp2
HG01168.hp2
others(25): Show 
HG01070.hp2
HG01071.hp2
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG01978.hp1
HG02080.hp1
HG02300.hp2
HG02622.hp1
HG03490.hp2
HG03669.hp2
HG03710.hp2
HG04115.hp2
HG04228.hp2
NA18944.hp1
NA18948.hp1
NA18951.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18979.hp1
NA18993.hp2
NA19004.hp1
NA19009.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19084.hp1
 intron_variant MODIFIER c.1893-31576C>T
c.1893-31576C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36798861
chr21:36798902 G
G
 T
T
 6 a0001c0001t0037g0254
a0001c0004t0068g0088
a0001c0006t0023g0212
others(3): Show 
a0001c0001t0037g0254
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
a0002c0002t0048g0144
 6 HG02109.hp2
HG02145.hp1
HG03195.hp1
others(3): Show 
HG02109.hp2
HG02145.hp1
HG03195.hp1
HG03195.hp2
HG03516.hp2
NA19043.hp2
 intron_variant MODIFIER c.1893-31617C>A
c.1893-31617C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36798902
chr21:36799015 G
G
 A
A
 5 a0001c0001t0019g0061
a0001c0001t0031g0057
a0002c0002t0040g0242
others(2): Show 
a0001c0001t0019g0061
a0001c0001t0031g0057
a0002c0002t0040g0242
a0002c0002t0045g0151
a0002c0002t0062g0145
 5 HG01109.hp1
HG02559.hp2
HG02717.hp1
others(2): Show 
HG01109.hp1
HG02559.hp2
HG02717.hp1
HG03209.hp2
NA18522.hp1
 intron_variant MODIFIER c.1893-31730C>T
c.1893-31730C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36799015
chr21:36799047 A
A
 AT
AT
 6 a0001c0001t0037g0254
a0001c0004t0068g0088
a0001c0006t0023g0212
others(3): Show 
a0001c0001t0037g0254
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
a0002c0002t0048g0144
 6 HG02109.hp2
HG02145.hp1
HG03195.hp1
others(3): Show 
HG02109.hp2
HG02145.hp1
HG03195.hp1
HG03195.hp2
HG03516.hp2
NA19043.hp2
 intron_variant MODIFIER c.1893-31763dupA
c.1893-31763dupA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36799047
chr21:36799121 T
T
 C
C
 28 a0001c0001t0001g0017
a0001c0001t0001g0027
a0001c0001t0001g0128
others(25): Show 
a0001c0001t0001g0017
a0001c0001t0001g0027
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0230
a0001c0001t0005g0115
a0001c0001t0006g0012
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0013g0231
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0020g0002
a0001c0001t0057g0225
a0001c0010t0011g0020
a0001c0015t0052g0239
a0001c0018t0004g0060
 28 HG01070.hp2
HG01071.hp2
HG01168.hp2
others(25): Show 
HG01070.hp2
HG01071.hp2
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG01978.hp1
HG02080.hp1
HG02300.hp2
HG02622.hp1
HG03490.hp2
HG03669.hp2
HG03710.hp2
HG04115.hp2
HG04228.hp2
NA18944.hp1
NA18948.hp1
NA18951.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18979.hp1
NA18993.hp2
NA19004.hp1
NA19009.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19084.hp1
 intron_variant MODIFIER c.1893-31836A>G
c.1893-31836A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36799121
chr21:36799126 T
T
 C
C
 79 a0001c0001t0001g0017
a0001c0001t0001g0027
a0001c0001t0001g0122
others(76): Show 
a0001c0001t0001g0017
a0001c0001t0001g0027
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0005g0021
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0005g0115
a0001c0001t0006g0012
a0001c0001t0006g0256
a0001c0001t0007g0227
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0028g0167
a0001c0001t0030g0257
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0057g0225
a0001c0001t0073g0246
a0001c0001t0084g0075
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0098g0035
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0025g0149
a0002c0002t0043g0152
a0002c0002t0048g0144
a0005c0011t0033g0139
a0006c0016t0001g0116
 79 HG00323.hp1
HG00438.hp2
HG00735.hp1
others(76): Show 
HG00323.hp1
HG00438.hp2
HG00735.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG01255.hp1
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01361.hp2
HG01891.hp1
HG01978.hp1
HG02040.hp1
HG02080.hp1
HG02083.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02300.hp2
HG02559.hp1
HG02615.hp2
HG02622.hp1
HG02886.hp2
HG02976.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03516.hp1
HG03516.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp2
HG04115.hp2
HG04228.hp2
HG06807.hp1
NA18612.hp2
NA18940.hp2
NA18942.hp1
NA18944.hp1
NA18945.hp2
NA18948.hp1
NA18950.hp1
NA18951.hp2
NA18952.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18975.hp1
NA18979.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp2
NA19043.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA20129.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-31841A>G
c.1893-31841A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36799126
chr21:36799133 C
C
 T
T
 1 a0001c0004t0017g0224
a0001c0004t0017g0224
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.1893-31848G>A
c.1893-31848G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36799133
chr21:36799139 A
A
 G
G
 1 a0001c0001t0028g0167
a0001c0001t0028g0167
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.1893-31854T>C
c.1893-31854T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36799139
chr21:36799326 C
C
 T
T
 124 a0001c0001t0001g0017
a0001c0001t0001g0027
a0001c0001t0001g0122
others(121): Show 
a0001c0001t0001g0017
a0001c0001t0001g0027
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0015
a0001c0001t0005g0021
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0005g0115
a0001c0001t0006g0012
a0001c0001t0006g0109
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0227
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0019g0061
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0022g0187
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0073g0246
a0001c0001t0075g0049
a0001c0001t0081g0016
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0093g0133
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0004t0004g0046
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0025g0149
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0048g0144
a0002c0002t0062g0145
a0003c0005t0002g0195
a0003c0005t0027g0218
a0005c0011t0033g0139
a0006c0016t0001g0116
 124 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(121): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00639.hp1
HG00735.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01361.hp2
HG01496.hp1
HG01884.hp1
HG01891.hp1
HG01975.hp1
HG01978.hp1
HG02040.hp1
HG02080.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02300.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18612.hp2
NA18940.hp2
NA18942.hp1
NA18944.hp1
NA18945.hp2
NA18948.hp1
NA18950.hp1
NA18951.hp2
NA18952.hp2
NA18961.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18975.hp1
NA18979.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp2
NA19030.hp2
NA19043.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA20129.hp1
NA20129.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-32041G>A
c.1893-32041G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36799326
chr21:36799354 C
C
 T
T
 51 a0001c0001t0001g0122
a0001c0001t0002g0174
a0001c0001t0002g0238
others(48): Show 
a0001c0001t0001g0122
a0001c0001t0002g0174
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0226
a0001c0001t0003g0244
a0001c0001t0005g0021
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0006g0256
a0001c0001t0007g0227
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0013g0223
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0020g0034
a0001c0001t0028g0167
a0001c0001t0030g0257
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0073g0246
a0001c0001t0084g0075
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0098g0035
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0017t0108g0082
a0002c0002t0025g0149
a0002c0002t0043g0152
a0002c0002t0048g0144
a0005c0011t0033g0139
a0006c0016t0001g0116
 51 HG00323.hp1
HG00438.hp2
HG00735.hp1
others(48): Show 
HG00323.hp1
HG00438.hp2
HG00735.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01255.hp1
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01361.hp2
HG01891.hp1
HG02040.hp1
HG02083.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02559.hp1
HG02615.hp2
HG02886.hp2
HG02976.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03516.hp2
HG03669.hp1
HG06807.hp1
NA18612.hp2
NA18940.hp2
NA18942.hp1
NA18945.hp2
NA18950.hp1
NA18952.hp2
NA18975.hp1
NA18984.hp1
NA18989.hp1
NA19004.hp2
NA19043.hp2
NA19074.hp2
NA20129.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-32069G>A
c.1893-32069G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36799354
chr21:36799791 C
C
 A
A
 50 a0001c0001t0001g0017
a0001c0001t0001g0027
a0001c0001t0001g0128
others(47): Show 
a0001c0001t0001g0017
a0001c0001t0001g0027
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0230
a0001c0001t0005g0115
a0001c0001t0006g0012
a0001c0001t0006g0256
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0013g0231
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0018g0176
a0001c0001t0020g0002
a0001c0001t0030g0257
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0037g0254
a0001c0001t0057g0225
a0001c0001t0073g0246
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0025g0149
a0002c0002t0043g0152
a0002c0002t0048g0144
a0005c0011t0033g0139
 50 HG00323.hp1
HG01070.hp2
HG01071.hp2
others(47): Show 
HG00323.hp1
HG01070.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG01891.hp1
HG01978.hp1
HG02080.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02300.hp2
HG02559.hp1
HG02615.hp2
HG02622.hp1
HG02886.hp2
HG02976.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03471.hp1
HG03490.hp2
HG03516.hp1
HG03516.hp2
HG03669.hp2
HG03710.hp2
HG04115.hp2
HG04228.hp2
HG06807.hp1
NA18944.hp1
NA18948.hp1
NA18951.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18979.hp1
NA18993.hp2
NA19004.hp1
NA19009.hp2
NA19043.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19084.hp1
 intron_variant MODIFIER c.1893-32506G>T
c.1893-32506G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36799791
chr21:36799842 A
A
 G
G
 29 a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0027
others(26): Show 
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0027
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0230
a0001c0001t0005g0115
a0001c0001t0006g0012
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0013g0231
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0020g0002
a0001c0001t0057g0225
a0001c0010t0011g0020
a0001c0015t0052g0239
a0001c0018t0004g0060
 29 HG01070.hp2
HG01071.hp2
HG01168.hp2
others(26): Show 
HG01070.hp2
HG01071.hp2
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG01978.hp1
HG02080.hp1
HG02300.hp2
HG02523.hp1
HG02622.hp1
HG03490.hp2
HG03669.hp2
HG03710.hp2
HG04115.hp2
HG04228.hp2
NA18944.hp1
NA18948.hp1
NA18951.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18979.hp1
NA18993.hp2
NA19004.hp1
NA19009.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19084.hp1
 intron_variant MODIFIER c.1893-32557T>C
c.1893-32557T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36799842
chr21:36799888 T
T
 C
C
 1 a0001c0001t0005g0021
a0001c0001t0005g0021
 1 NA18950.hp1
NA18950.hp1
 intron_variant MODIFIER c.1893-32603A>G
c.1893-32603A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36799888
chr21:36799905 G
G
 T
T
 29 a0001c0001t0001g0122
a0001c0001t0002g0174
a0001c0001t0002g0238
others(26): Show 
a0001c0001t0001g0122
a0001c0001t0002g0174
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0226
a0001c0001t0003g0244
a0001c0001t0005g0021
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0007g0227
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0013g0223
a0001c0001t0016g0106
a0001c0001t0020g0034
a0001c0001t0028g0167
a0001c0001t0035g0097
a0001c0001t0084g0075
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0098g0035
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0003t0003g0199
a0001c0004t0042g0209
a0001c0004t0072g0248
a0006c0016t0001g0116
 29 HG00438.hp2
HG00735.hp1
HG01071.hp1
others(26): Show 
HG00438.hp2
HG00735.hp1
HG01071.hp1
HG01255.hp1
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01361.hp2
HG02040.hp1
HG02083.hp1
HG02135.hp1
HG03098.hp1
HG03225.hp1
HG03471.hp2
HG03669.hp1
NA18612.hp2
NA18940.hp2
NA18942.hp1
NA18945.hp2
NA18950.hp1
NA18952.hp2
NA18975.hp1
NA18984.hp1
NA18989.hp1
NA19004.hp2
NA19074.hp2
NA20129.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-32620C>A
c.1893-32620C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36799905
chr21:36800039 C
C
 A
A
 6 a0001c0001t0037g0254
a0001c0004t0068g0088
a0001c0006t0023g0212
others(3): Show 
a0001c0001t0037g0254
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
a0002c0002t0048g0144
 6 HG02109.hp2
HG02145.hp1
HG03195.hp1
others(3): Show 
HG02109.hp2
HG02145.hp1
HG03195.hp1
HG03195.hp2
HG03516.hp2
NA19043.hp2
 intron_variant MODIFIER c.1893-32754G>T
c.1893-32754G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36800039
chr21:36800325 A
A
 G
G
 7 a0001c0001t0004g0015
a0001c0001t0010g0249
a0001c0001t0012g0234
others(4): Show 
a0001c0001t0004g0015
a0001c0001t0010g0249
a0001c0001t0012g0234
a0001c0001t0030g0048
a0001c0001t0038g0102
a0001c0001t0075g0049
a0001c0001t0099g0124
 7 HG00741.hp2
HG01243.hp1
HG02109.hp1
others(4): Show 
HG00741.hp2
HG01243.hp1
HG02109.hp1
HG02572.hp2
HG02922.hp1
HG04204.hp1
NA19030.hp2
 intron_variant MODIFIER c.1893-33040T>C
c.1893-33040T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36800325
chr21:36800436 A
A
 G
G
 80 a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0027
others(77): Show 
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0027
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0005g0021
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0005g0115
a0001c0001t0006g0012
a0001c0001t0006g0256
a0001c0001t0007g0227
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0028g0167
a0001c0001t0030g0257
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0057g0225
a0001c0001t0073g0246
a0001c0001t0084g0075
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0098g0035
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0025g0149
a0002c0002t0043g0152
a0002c0002t0048g0144
a0005c0011t0033g0139
a0006c0016t0001g0116
 80 HG00323.hp1
HG00438.hp2
HG00735.hp1
others(77): Show 
HG00323.hp1
HG00438.hp2
HG00735.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG01255.hp1
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01361.hp2
HG01891.hp1
HG01978.hp1
HG02040.hp1
HG02080.hp1
HG02083.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02300.hp2
HG02523.hp1
HG02559.hp1
HG02615.hp2
HG02622.hp1
HG02886.hp2
HG02976.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03516.hp1
HG03516.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp2
HG04115.hp2
HG04228.hp2
HG06807.hp1
NA18612.hp2
NA18940.hp2
NA18942.hp1
NA18944.hp1
NA18945.hp2
NA18948.hp1
NA18950.hp1
NA18951.hp2
NA18952.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18975.hp1
NA18979.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp2
NA19043.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA20129.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-33151T>C
c.1893-33151T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36800436
chr21:36800866 T
T
 C
C
 6 a0001c0001t0037g0254
a0001c0004t0068g0088
a0001c0006t0023g0212
others(3): Show 
a0001c0001t0037g0254
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
a0002c0002t0048g0144
 6 HG02109.hp2
HG02145.hp1
HG03195.hp1
others(3): Show 
HG02109.hp2
HG02145.hp1
HG03195.hp1
HG03195.hp2
HG03516.hp2
NA19043.hp2
 intron_variant MODIFIER c.1893-33581A>G
c.1893-33581A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36800866
chr21:36800922 G
G
 A
A
 6 a0001c0001t0037g0254
a0001c0004t0068g0088
a0001c0006t0023g0212
others(3): Show 
a0001c0001t0037g0254
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
a0002c0002t0048g0144
 6 HG02109.hp2
HG02145.hp1
HG03195.hp1
others(3): Show 
HG02109.hp2
HG02145.hp1
HG03195.hp1
HG03195.hp2
HG03516.hp2
NA19043.hp2
 intron_variant MODIFIER c.1893-33637C>T
c.1893-33637C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36800922
chr21:36801043 T
T
 A
A
 1 a0001c0001t0102g0063
a0001c0001t0102g0063
 1 HG02135.hp1
HG02135.hp1
 intron_variant MODIFIER c.1893-33758A>T
c.1893-33758A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36801043
chr21:36801342 T
T
 C
C
 1 a0001c0001t0032g0081
a0001c0001t0032g0081
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.1893-34057A>G
c.1893-34057A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36801342
chr21:36801377 C
C
 T
T
 2 a0001c0001t0001g0006
a0001c0001t0101g0008
a0001c0001t0001g0006
a0001c0001t0101g0008
 2 HG00738.hp1
HG01516.hp1
HG00738.hp1
HG01516.hp1
 intron_variant MODIFIER c.1893-34092G>A
c.1893-34092G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36801377
chr21:36801396 C
C
 G
G
 80 a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0027
others(77): Show 
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0027
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0005g0021
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0005g0115
a0001c0001t0006g0012
a0001c0001t0006g0256
a0001c0001t0007g0227
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0028g0167
a0001c0001t0030g0257
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0057g0225
a0001c0001t0073g0246
a0001c0001t0084g0075
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0098g0035
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0025g0149
a0002c0002t0043g0152
a0002c0002t0048g0144
a0005c0011t0033g0139
a0006c0016t0001g0116
 80 HG00323.hp1
HG00438.hp2
HG00735.hp1
others(77): Show 
HG00323.hp1
HG00438.hp2
HG00735.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG01255.hp1
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01361.hp2
HG01891.hp1
HG01978.hp1
HG02040.hp1
HG02080.hp1
HG02083.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02300.hp2
HG02523.hp1
HG02559.hp1
HG02615.hp2
HG02622.hp1
HG02886.hp2
HG02976.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03516.hp1
HG03516.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp2
HG04115.hp2
HG04228.hp2
HG06807.hp1
NA18612.hp2
NA18940.hp2
NA18942.hp1
NA18944.hp1
NA18945.hp2
NA18948.hp1
NA18950.hp1
NA18951.hp2
NA18952.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18975.hp1
NA18979.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp2
NA19043.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA20129.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-34111G>C
c.1893-34111G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36801396
chr21:36801679 T
T
 G
G
 5 a0001c0001t0019g0061
a0001c0001t0031g0057
a0002c0002t0040g0242
others(2): Show 
a0001c0001t0019g0061
a0001c0001t0031g0057
a0002c0002t0040g0242
a0002c0002t0045g0151
a0002c0002t0062g0145
 5 HG01109.hp1
HG02559.hp2
HG02717.hp1
others(2): Show 
HG01109.hp1
HG02559.hp2
HG02717.hp1
HG03209.hp2
NA18522.hp1
 intron_variant MODIFIER c.1893-34394A>C
c.1893-34394A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36801679
chr21:36801698 T
T
 G
G
 4 a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0004t0067g0067
others(1): Show 
a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0004t0067g0067
a0002c0002t0025g0149
 4 HG01891.hp1
HG02559.hp1
HG03516.hp1
others(1): Show 
HG01891.hp1
HG02559.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.1893-34413A>C
c.1893-34413A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36801698
chr21:36801720 T
T
 C
C
 12 a0001c0001t0006g0256
a0001c0001t0018g0176
a0001c0001t0030g0257
others(9): Show 
a0001c0001t0006g0256
a0001c0001t0018g0176
a0001c0001t0030g0257
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0007t0007g0200
a0001c0007t0012g0207
a0002c0002t0043g0152
a0005c0011t0033g0139
 12 HG00323.hp1
HG01106.hp1
HG01109.hp2
others(9): Show 
HG00323.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02615.hp2
HG02886.hp2
HG02976.hp2
HG03130.hp2
HG03471.hp1
 intron_variant MODIFIER c.1893-34435A>G
c.1893-34435A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36801720
chr21:36801782 C
C
 CT
CT
 12 a0001c0001t0006g0256
a0001c0001t0018g0176
a0001c0001t0030g0257
others(9): Show 
a0001c0001t0006g0256
a0001c0001t0018g0176
a0001c0001t0030g0257
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0007t0007g0200
a0001c0007t0012g0207
a0002c0002t0043g0152
a0005c0011t0033g0139
 12 HG00323.hp1
HG01106.hp1
HG01109.hp2
others(9): Show 
HG00323.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02615.hp2
HG02886.hp2
HG02976.hp2
HG03130.hp2
HG03471.hp1
 intron_variant MODIFIER c.1893-34498dupA
c.1893-34498dupA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36801782
chr21:36801782 CT
CT
 C
C
 8 a0001c0001t0006g0132
a0001c0001t0037g0254
a0001c0004t0042g0209
others(5): Show 
a0001c0001t0006g0132
a0001c0001t0037g0254
a0001c0004t0042g0209
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
a0002c0002t0048g0144
 8 HG00735.hp1
HG02109.hp2
HG02145.hp1
others(5): Show 
HG00735.hp1
HG02109.hp2
HG02145.hp1
HG02976.hp1
HG03195.hp1
HG03195.hp2
HG03516.hp2
NA19043.hp2
 intron_variant MODIFIER c.1893-34498delA
c.1893-34498delA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36801782
chr21:36801794 T
T
 A
A
 4 a0001c0001t0005g0052
a0001c0001t0005g0135
a0001c0001t0074g0087
others(1): Show 
a0001c0001t0005g0052
a0001c0001t0005g0135
a0001c0001t0074g0087
a0002c0002t0013g0147
 4 HG00735.hp2
HG02615.hp1
HG03139.hp2
others(1): Show 
HG00735.hp2
HG02615.hp1
HG03139.hp2
NA19043.hp1
 intron_variant MODIFIER c.1893-34509A>T
c.1893-34509A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36801794
chr21:36801795 A
A
 T
T
 9 a0001c0001t0001g0043
a0001c0001t0004g0045
a0001c0001t0008g0018
others(6): Show 
a0001c0001t0001g0043
a0001c0001t0004g0045
a0001c0001t0008g0018
a0001c0001t0078g0108
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0027g0157
a0004c0019t0112g0258
 9 HG01981.hp2
HG02135.hp2
HG02300.hp1
others(6): Show 
HG01981.hp2
HG02135.hp2
HG02300.hp1
HG02486.hp1
HG02602.hp1
HG03239.hp1
NA18942.hp2
NA18951.hp1
NA18961.hp1
 intron_variant MODIFIER c.1893-34510T>A
c.1893-34510T>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36801795
chr21:36801827 T
T
 A
A
 6 a0001c0001t0037g0254
a0001c0004t0068g0088
a0001c0006t0023g0212
others(3): Show 
a0001c0001t0037g0254
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
a0002c0002t0048g0144
 6 HG02109.hp2
HG02145.hp1
HG03195.hp1
others(3): Show 
HG02109.hp2
HG02145.hp1
HG03195.hp1
HG03195.hp2
HG03516.hp2
NA19043.hp2
 intron_variant MODIFIER c.1893-34542A>T
c.1893-34542A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36801827
chr21:36801900 T
T
 C
C
 6 a0001c0001t0037g0254
a0001c0004t0068g0088
a0001c0006t0023g0212
others(3): Show 
a0001c0001t0037g0254
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
a0002c0002t0048g0144
 6 HG02109.hp2
HG02145.hp1
HG03195.hp1
others(3): Show 
HG02109.hp2
HG02145.hp1
HG03195.hp1
HG03195.hp2
HG03516.hp2
NA19043.hp2
 intron_variant MODIFIER c.1893-34615A>G
c.1893-34615A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36801900
chr21:36802017 A
A
 G
G
 6 a0001c0001t0037g0254
a0001c0004t0068g0088
a0001c0006t0023g0212
others(3): Show 
a0001c0001t0037g0254
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
a0002c0002t0048g0144
 6 HG02109.hp2
HG02145.hp1
HG03195.hp1
others(3): Show 
HG02109.hp2
HG02145.hp1
HG03195.hp1
HG03195.hp2
HG03516.hp2
NA19043.hp2
 intron_variant MODIFIER c.1893-34732T>C
c.1893-34732T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36802017
chr21:36802084 G
G
 A
A
 5 a0001c0001t0019g0061
a0001c0001t0031g0057
a0002c0002t0040g0242
others(2): Show 
a0001c0001t0019g0061
a0001c0001t0031g0057
a0002c0002t0040g0242
a0002c0002t0045g0151
a0002c0002t0062g0145
 5 HG01109.hp1
HG02559.hp2
HG02717.hp1
others(2): Show 
HG01109.hp1
HG02559.hp2
HG02717.hp1
HG03209.hp2
NA18522.hp1
 intron_variant MODIFIER c.1893-34799C>T
c.1893-34799C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36802084
chr21:36802174 A
A
 G
G
 6 a0001c0001t0037g0254
a0001c0004t0068g0088
a0001c0006t0023g0212
others(3): Show 
a0001c0001t0037g0254
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
a0002c0002t0048g0144
 6 HG02109.hp2
HG02145.hp1
HG03195.hp1
others(3): Show 
HG02109.hp2
HG02145.hp1
HG03195.hp1
HG03195.hp2
HG03516.hp2
NA19043.hp2
 intron_variant MODIFIER c.1893-34889T>C
c.1893-34889T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36802174
chr21:36802181 G
G
 C
C
 6 a0001c0001t0037g0254
a0001c0004t0068g0088
a0001c0006t0023g0212
others(3): Show 
a0001c0001t0037g0254
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
a0002c0002t0048g0144
 6 HG02109.hp2
HG02145.hp1
HG03195.hp1
others(3): Show 
HG02109.hp2
HG02145.hp1
HG03195.hp1
HG03195.hp2
HG03516.hp2
NA19043.hp2
 intron_variant MODIFIER c.1893-34896C>G
c.1893-34896C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36802181
chr21:36802214 G
G
 A
A
 1 a0001c0001t0001g0092
a0001c0001t0001g0092
 1 NA19088.hp2
NA19088.hp2
 intron_variant MODIFIER c.1893-34929C>T
c.1893-34929C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36802214
chr21:36802244 A
A
 G
G
 257 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(254): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 257 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(254): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-34959T>C
c.1893-34959T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36802244
chr21:36802520 A
A
 C
C
 2 a0001c0001t0001g0024
a0001c0001t0005g0004
a0001c0001t0001g0024
a0001c0001t0005g0004
 2 HG01257.hp1
HG02080.hp2
HG01257.hp1
HG02080.hp2
 intron_variant MODIFIER c.1893-35235T>G
c.1893-35235T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36802520
chr21:36802574 G
G
 A
A
 5 a0001c0001t0019g0061
a0001c0001t0031g0057
a0002c0002t0040g0242
others(2): Show 
a0001c0001t0019g0061
a0001c0001t0031g0057
a0002c0002t0040g0242
a0002c0002t0045g0151
a0002c0002t0062g0145
 5 HG01109.hp1
HG02559.hp2
HG02717.hp1
others(2): Show 
HG01109.hp1
HG02559.hp2
HG02717.hp1
HG03209.hp2
NA18522.hp1
 intron_variant MODIFIER c.1893-35289C>T
c.1893-35289C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36802574
chr21:36802587 C
C
 A
A
 26 a0001c0001t0001g0122
a0001c0001t0002g0174
a0001c0001t0002g0238
others(23): Show 
a0001c0001t0001g0122
a0001c0001t0002g0174
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0226
a0001c0001t0003g0244
a0001c0001t0005g0021
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0007g0227
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0013g0223
a0001c0001t0016g0106
a0001c0001t0020g0034
a0001c0001t0035g0097
a0001c0001t0084g0075
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0098g0035
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0003t0003g0199
a0006c0016t0001g0116
 26 HG00438.hp2
HG01071.hp1
HG01255.hp1
others(23): Show 
HG00438.hp2
HG01071.hp1
HG01255.hp1
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01361.hp2
HG02040.hp1
HG02083.hp1
HG02135.hp1
HG03098.hp1
HG03669.hp1
NA18612.hp2
NA18940.hp2
NA18942.hp1
NA18945.hp2
NA18950.hp1
NA18952.hp2
NA18975.hp1
NA18984.hp1
NA18989.hp1
NA19004.hp2
NA19074.hp2
NA20129.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-35302G>T
c.1893-35302G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36802587
chr21:36802641 C
C
 T
T
 1 a0001c0001t0082g0112
a0001c0001t0082g0112
 1 HG01981.hp1
HG01981.hp1
 intron_variant MODIFIER c.1893-35356G>A
c.1893-35356G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36802641
chr21:36802807 C
C
 G
G
 2 a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0064
a0001c0001t0008g0065
 2 HG03490.hp1
HG03492.hp1
HG03490.hp1
HG03492.hp1
 intron_variant MODIFIER c.1893-35522G>C
c.1893-35522G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36802807
chr21:36802816 G
G
 A
A
 1 a0007c0014t0070g0131
a0007c0014t0070g0131
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.1893-35531C>T
c.1893-35531C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36802816
chr21:36802869 C
C
 A
A
 2 a0001c0001t0051g0168
a0001c0013t0022g0177
a0001c0001t0051g0168
a0001c0013t0022g0177
 2 HG02896.hp2
HG03130.hp1
HG02896.hp2
HG03130.hp1
 intron_variant MODIFIER c.1893-35584G>T
c.1893-35584G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36802869
chr21:36803020 G
G
 A
A
 1 a0001c0001t0003g0173
a0001c0001t0003g0173
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.1893-35735C>T
c.1893-35735C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36803020
chr21:36803143 C
C
 T
T
 1 a0005c0011t0033g0139
a0005c0011t0033g0139
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.1893-35858G>A
c.1893-35858G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36803143
chr21:36803438 C
C
 T
T
 12 a0001c0001t0006g0256
a0001c0001t0018g0176
a0001c0001t0030g0257
others(9): Show 
a0001c0001t0006g0256
a0001c0001t0018g0176
a0001c0001t0030g0257
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0007t0007g0200
a0001c0007t0012g0207
a0002c0002t0043g0152
a0005c0011t0033g0139
 12 HG00323.hp1
HG01106.hp1
HG01109.hp2
others(9): Show 
HG00323.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02615.hp2
HG02886.hp2
HG02976.hp2
HG03130.hp2
HG03471.hp1
 intron_variant MODIFIER c.1893-36153G>A
c.1893-36153G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36803438
chr21:36803575 G
G
 A
A
 4 a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0004t0067g0067
others(1): Show 
a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0004t0067g0067
a0002c0002t0025g0149
 4 HG01891.hp1
HG02559.hp1
HG03516.hp1
others(1): Show 
HG01891.hp1
HG02559.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.1893-36290C>T
c.1893-36290C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36803575
chr21:36803752 T
T
 C
C
 7 a0001c0001t0001g0072
a0001c0001t0008g0084
a0001c0001t0021g0076
others(4): Show 
a0001c0001t0001g0072
a0001c0001t0008g0084
a0001c0001t0021g0076
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0059g0180
a0001c0001t0074g0087
 7 HG00735.hp2
HG01070.hp1
HG01123.hp2
others(4): Show 
HG00735.hp2
HG01070.hp1
HG01123.hp2
HG01433.hp2
HG01515.hp2
HG01516.hp2
HG01891.hp2
 intron_variant MODIFIER c.1893-36467A>G
c.1893-36467A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36803752
chr21:36803754 GA
GA
 G
G
 253 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(250): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 253 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(250): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-36470delT
c.1893-36470delT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36803754
chr21:36803816 C
C
 T
T
 12 a0001c0001t0006g0256
a0001c0001t0018g0176
a0001c0001t0030g0257
others(9): Show 
a0001c0001t0006g0256
a0001c0001t0018g0176
a0001c0001t0030g0257
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0007t0007g0200
a0001c0007t0012g0207
a0002c0002t0043g0152
a0005c0011t0033g0139
 12 HG00323.hp1
HG01106.hp1
HG01109.hp2
others(9): Show 
HG00323.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02615.hp2
HG02886.hp2
HG02976.hp2
HG03130.hp2
HG03471.hp1
 intron_variant MODIFIER c.1893-36531G>A
c.1893-36531G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36803816
chr21:36804000 T
T
 C
C
 1 a0001c0001t0013g0231
a0001c0001t0013g0231
 1 HG02080.hp1
HG02080.hp1
 intron_variant MODIFIER c.1893-36715A>G
c.1893-36715A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36804000
chr21:36804031 C
C
 G
G
 79 a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0027
others(76): Show 
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0027
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0005g0021
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0005g0115
a0001c0001t0006g0012
a0001c0001t0006g0256
a0001c0001t0007g0227
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0028g0167
a0001c0001t0030g0257
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0057g0225
a0001c0001t0073g0246
a0001c0001t0084g0075
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0098g0035
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0025g0149
a0002c0002t0043g0152
a0005c0011t0033g0139
a0006c0016t0001g0116
 79 HG00323.hp1
HG00438.hp2
HG00735.hp1
others(76): Show 
HG00323.hp1
HG00438.hp2
HG00735.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG01255.hp1
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01361.hp2
HG01891.hp1
HG01978.hp1
HG02040.hp1
HG02080.hp1
HG02083.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02300.hp2
HG02523.hp1
HG02559.hp1
HG02615.hp2
HG02622.hp1
HG02886.hp2
HG02976.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03516.hp1
HG03669.hp1
HG03669.hp2
HG03710.hp2
HG04115.hp2
HG04228.hp2
HG06807.hp1
NA18612.hp2
NA18940.hp2
NA18942.hp1
NA18944.hp1
NA18945.hp2
NA18948.hp1
NA18950.hp1
NA18951.hp2
NA18952.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18975.hp1
NA18979.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp2
NA19043.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA20129.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-36746G>C
c.1893-36746G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36804031
chr21:36804086 C
C
 T
T
 1 a0001c0001t0005g0056
a0001c0001t0005g0056
 1 NA18942.hp1
NA18942.hp1
 intron_variant MODIFIER c.1893-36801G>A
c.1893-36801G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36804086
chr21:36804360 C
C
 T
T
 1 a0001c0001t0038g0102
a0001c0001t0038g0102
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.1893-37075G>A
c.1893-37075G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36804360
chr21:36804381 A
A
 G
G
 143 a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0027
others(140): Show 
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0027
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0015
a0001c0001t0004g0138
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0227
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0022g0187
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0073g0246
a0001c0001t0075g0049
a0001c0001t0081g0016
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0093g0133
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0149
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0092g0134
a0005c0011t0033g0139
a0006c0016t0001g0116
a0009c0009t0012g0196
 143 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(140): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00639.hp1
HG00735.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01361.hp2
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01975.hp1
HG01978.hp1
HG02040.hp1
HG02080.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02300.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18940.hp2
NA18942.hp1
NA18944.hp1
NA18945.hp2
NA18948.hp1
NA18950.hp1
NA18951.hp2
NA18952.hp2
NA18961.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18975.hp1
NA18979.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-37096T>C
c.1893-37096T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36804381
chr21:36804455 A
A
 C
C
 4 a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0004t0067g0067
others(1): Show 
a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0004t0067g0067
a0002c0002t0025g0149
 4 HG01891.hp1
HG02559.hp1
HG03516.hp1
others(1): Show 
HG01891.hp1
HG02559.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.1893-37170T>G
c.1893-37170T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36804455
chr21:36804525 G
G
 C
C
 28 a0001c0001t0001g0017
a0001c0001t0001g0027
a0001c0001t0001g0128
others(25): Show 
a0001c0001t0001g0017
a0001c0001t0001g0027
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0230
a0001c0001t0005g0115
a0001c0001t0006g0012
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0013g0231
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0020g0002
a0001c0001t0057g0225
a0001c0010t0011g0020
a0001c0015t0052g0239
a0001c0018t0004g0060
 28 HG01070.hp2
HG01071.hp2
HG01168.hp2
others(25): Show 
HG01070.hp2
HG01071.hp2
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG01978.hp1
HG02080.hp1
HG02300.hp2
HG02622.hp1
HG03490.hp2
HG03669.hp2
HG03710.hp2
HG04115.hp2
HG04228.hp2
NA18944.hp1
NA18948.hp1
NA18951.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18979.hp1
NA18993.hp2
NA19004.hp1
NA19009.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19084.hp1
 intron_variant MODIFIER c.1893-37240C>G
c.1893-37240C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36804525
chr21:36804556 C
C
 T
T
 1 a0001c0001t0021g0130
a0001c0001t0021g0130
 1 HG02027.hp2
HG02027.hp2
 intron_variant MODIFIER c.1893-37271G>A
c.1893-37271G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36804556
chr21:36804658 C
C
 T
T
 1 a0001c0001t0011g0103
a0001c0001t0011g0103
 1 NA18975.hp2
NA18975.hp2
 intron_variant MODIFIER c.1893-37373G>A
c.1893-37373G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36804658
chr21:36804776 G
G
 A
A
 1 a0002c0002t0003g0156
a0002c0002t0003g0156
 1 NA18961.hp1
NA18961.hp1
 intron_variant MODIFIER c.1893-37491C>T
c.1893-37491C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36804776
chr21:36804792 C
C
 A
A
 3 a0001c0001t0006g0132
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0006g0132
a0001c0001t0026g0250
a0001c0001t0026g0251
 3 HG01257.hp2
HG01258.hp1
HG02976.hp1
HG01257.hp2
HG01258.hp1
HG02976.hp1
 intron_variant MODIFIER c.1893-37507G>T
c.1893-37507G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36804792
chr21:36804818 A
A
 G
G
 17 a0001c0001t0002g0193
a0001c0001t0004g0138
a0001c0001t0005g0052
others(14): Show 
a0001c0001t0002g0193
a0001c0001t0004g0138
a0001c0001t0005g0052
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0127
a0001c0001t0019g0247
a0001c0001t0033g0104
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0111g0137
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0064g0243
a0003c0005t0092g0134
a0009c0009t0012g0196
 17 HG01175.hp1
HG01175.hp2
HG01884.hp2
others(14): Show 
HG01175.hp1
HG01175.hp2
HG01884.hp2
HG02572.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp2
HG02895.hp1
HG02897.hp1
HG02965.hp2
HG03041.hp1
HG03139.hp2
HG03453.hp2
HG03540.hp1
NA18522.hp2
NA19043.hp1
NA19240.hp1
 intron_variant MODIFIER c.1893-37533T>C
c.1893-37533T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36804818
chr21:36804946 G
G
 C
C
 29 a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0027
others(26): Show 
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0027
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0230
a0001c0001t0005g0115
a0001c0001t0006g0012
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0013g0231
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0020g0002
a0001c0001t0057g0225
a0001c0010t0011g0020
a0001c0015t0052g0239
a0001c0018t0004g0060
 29 HG01070.hp2
HG01071.hp2
HG01168.hp2
others(26): Show 
HG01070.hp2
HG01071.hp2
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG01978.hp1
HG02080.hp1
HG02300.hp2
HG02523.hp1
HG02622.hp1
HG03490.hp2
HG03669.hp2
HG03710.hp2
HG04115.hp2
HG04228.hp2
NA18944.hp1
NA18948.hp1
NA18951.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18979.hp1
NA18993.hp2
NA19004.hp1
NA19009.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19084.hp1
 intron_variant MODIFIER c.1893-37661C>G
c.1893-37661C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36804946
chr21:36805044 A
A
 C
C
 1 a0001c0007t0012g0207
a0001c0007t0012g0207
 1 HG02257.hp1
HG02257.hp1
 intron_variant MODIFIER c.1893-37759T>G
c.1893-37759T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36805044
chr21:36805061 G
G
 A
A
 4 a0001c0001t0022g0187
a0001c0001t0056g0198
a0001c0001t0069g0255
others(1): Show 
a0001c0001t0022g0187
a0001c0001t0056g0198
a0001c0001t0069g0255
a0001c0001t0093g0133
 4 HG01099.hp2
HG01884.hp1
HG02809.hp2
others(1): Show 
HG01099.hp2
HG01884.hp1
HG02809.hp2
HG03209.hp1
 intron_variant MODIFIER c.1893-37776C>T
c.1893-37776C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36805061
chr21:36805120 C
C
 T
T
 2 a0001c0001t0016g0091
a0001c0001t0080g0093
a0001c0001t0016g0091
a0001c0001t0080g0093
 2 HG00673.hp1
NA18979.hp2
HG00673.hp1
NA18979.hp2
 intron_variant MODIFIER c.1893-37835G>A
c.1893-37835G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36805120
chr21:36805135 GACGACAT
others(5): Show 
GACGACATAAGTA
 G
G
 1 a0001c0001t0003g0226
a0001c0001t0003g0226
 1 NA18984.hp1
NA18984.hp1
 intron_variant MODIFIER c.1893-37862_1893-37
others(18): Show 
c.1893-37862_1893-37851delTACTTATGTCGT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36805135
chr21:36805175 A
A
 C
C
 1 a0001c0004t0072g0248
a0001c0004t0072g0248
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.1893-37890T>G
c.1893-37890T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36805175
chr21:36805204 T
T
 C
C
 6 a0001c0001t0028g0192
a0001c0001t0044g0161
a0001c0001t0071g0089
others(3): Show 
a0001c0001t0028g0192
a0001c0001t0044g0161
a0001c0001t0071g0089
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
 6 HG02486.hp2
HG02647.hp2
HG02896.hp1
others(3): Show 
HG02486.hp2
HG02647.hp2
HG02896.hp1
HG02897.hp2
HG03139.hp1
NA19240.hp2
 intron_variant MODIFIER c.1893-37919A>G
c.1893-37919A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36805204
chr21:36805254 TTCTC
TTCTC
 T
T
 4 a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0004t0067g0067
others(1): Show 
a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0004t0067g0067
a0002c0002t0025g0149
 4 HG01891.hp1
HG02559.hp1
HG03516.hp1
others(1): Show 
HG01891.hp1
HG02559.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.1893-37973_1893-37
others(10): Show 
c.1893-37973_1893-37970delGAGA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36805254
chr21:36805390 C
C
 T
T
 1 a0001c0001t0004g0009
a0001c0001t0004g0009
 1 HG01256.hp1
HG01256.hp1
 intron_variant MODIFIER c.1893-38105G>A
c.1893-38105G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36805390
chr21:36805527 A
A
 G
G
 6 a0001c0001t0037g0254
a0001c0004t0068g0088
a0001c0006t0023g0212
others(3): Show 
a0001c0001t0037g0254
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
a0002c0002t0048g0144
 6 HG02109.hp2
HG02145.hp1
HG03195.hp1
others(3): Show 
HG02109.hp2
HG02145.hp1
HG03195.hp1
HG03195.hp2
HG03516.hp2
NA19043.hp2
 intron_variant MODIFIER c.1893-38242T>C
c.1893-38242T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36805527
chr21:36805680 G
G
 A
A
 16 a0001c0001t0002g0193
a0001c0001t0005g0052
a0001c0001t0005g0135
others(13): Show 
a0001c0001t0002g0193
a0001c0001t0005g0052
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0127
a0001c0001t0019g0247
a0001c0001t0033g0104
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0111g0137
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0064g0243
a0003c0005t0092g0134
a0009c0009t0012g0196
 16 HG01175.hp2
HG01884.hp2
HG02572.hp1
others(13): Show 
HG01175.hp2
HG01884.hp2
HG02572.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp2
HG02895.hp1
HG02897.hp1
HG02965.hp2
HG03041.hp1
HG03139.hp2
HG03453.hp2
HG03540.hp1
NA18522.hp2
NA19043.hp1
NA19240.hp1
 intron_variant MODIFIER c.1893-38395C>T
c.1893-38395C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36805680
chr21:36805904 G
G
 A
A
 12 a0001c0001t0006g0256
a0001c0001t0018g0176
a0001c0001t0030g0257
others(9): Show 
a0001c0001t0006g0256
a0001c0001t0018g0176
a0001c0001t0030g0257
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0007t0007g0200
a0001c0007t0012g0207
a0002c0002t0043g0152
a0005c0011t0033g0139
 12 HG00323.hp1
HG01106.hp1
HG01109.hp2
others(9): Show 
HG00323.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02615.hp2
HG02886.hp2
HG02976.hp2
HG03130.hp2
HG03471.hp1
 intron_variant MODIFIER c.1893-38619C>T
c.1893-38619C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36805904
chr21:36806172 G
G
 A
A
 2 a0001c0001t0066g0059
a0002c0002t0041g0148
a0001c0001t0066g0059
a0002c0002t0041g0148
 2 HG00639.hp1
HG01106.hp2
HG00639.hp1
HG01106.hp2
 intron_variant MODIFIER c.1893-38887C>T
c.1893-38887C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36806172
chr21:36806288 C
C
 A
A
 28 a0001c0001t0001g0017
a0001c0001t0001g0027
a0001c0001t0001g0128
others(25): Show 
a0001c0001t0001g0017
a0001c0001t0001g0027
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0230
a0001c0001t0005g0115
a0001c0001t0006g0012
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0013g0231
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0020g0002
a0001c0001t0057g0225
a0001c0010t0011g0020
a0001c0015t0052g0239
a0001c0018t0004g0060
 28 HG01070.hp2
HG01071.hp2
HG01168.hp2
others(25): Show 
HG01070.hp2
HG01071.hp2
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG01978.hp1
HG02080.hp1
HG02300.hp2
HG02622.hp1
HG03490.hp2
HG03669.hp2
HG03710.hp2
HG04115.hp2
HG04228.hp2
NA18944.hp1
NA18948.hp1
NA18951.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18979.hp1
NA18993.hp2
NA19004.hp1
NA19009.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19084.hp1
 intron_variant MODIFIER c.1893-39003G>T
c.1893-39003G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36806288
chr21:36806313 C
C
 T
T
 4 a0001c0001t0109g0119
a0001c0003t0111g0137
a0002c0002t0018g0153
others(1): Show 
a0001c0001t0109g0119
a0001c0003t0111g0137
a0002c0002t0018g0153
a0009c0009t0012g0196
 4 HG02647.hp1
HG02717.hp2
HG02965.hp2
others(1): Show 
HG02647.hp1
HG02717.hp2
HG02965.hp2
NA18522.hp2
 intron_variant MODIFIER c.1893-39028G>A
c.1893-39028G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36806313
chr21:36806546 G
G
 A
A
 2 a0001c0001t0031g0057
a0001c0004t0072g0248
a0001c0001t0031g0057
a0001c0004t0072g0248
 2 HG02717.hp1
HG03471.hp2
HG02717.hp1
HG03471.hp2
 intron_variant MODIFIER c.1893-39261C>T
c.1893-39261C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36806546
chr21:36806651 T
T
 C
C
 7 a0001c0001t0004g0015
a0001c0001t0010g0249
a0001c0001t0012g0234
others(4): Show 
a0001c0001t0004g0015
a0001c0001t0010g0249
a0001c0001t0012g0234
a0001c0001t0030g0048
a0001c0001t0038g0102
a0001c0001t0075g0049
a0001c0001t0099g0124
 7 HG00741.hp2
HG01243.hp1
HG02109.hp1
others(4): Show 
HG00741.hp2
HG01243.hp1
HG02109.hp1
HG02572.hp2
HG02922.hp1
HG04204.hp1
NA19030.hp2
 intron_variant MODIFIER c.1893-39366A>G
c.1893-39366A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36806651
chr21:36806776 C
C
 A
A
 28 a0001c0001t0001g0017
a0001c0001t0001g0027
a0001c0001t0001g0128
others(25): Show 
a0001c0001t0001g0017
a0001c0001t0001g0027
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0230
a0001c0001t0005g0115
a0001c0001t0006g0012
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0013g0231
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0020g0002
a0001c0001t0057g0225
a0001c0010t0011g0020
a0001c0015t0052g0239
a0001c0018t0004g0060
 28 HG01070.hp2
HG01071.hp2
HG01168.hp2
others(25): Show 
HG01070.hp2
HG01071.hp2
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG01978.hp1
HG02080.hp1
HG02300.hp2
HG02622.hp1
HG03490.hp2
HG03669.hp2
HG03710.hp2
HG04115.hp2
HG04228.hp2
NA18944.hp1
NA18948.hp1
NA18951.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18979.hp1
NA18993.hp2
NA19004.hp1
NA19009.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19084.hp1
 intron_variant MODIFIER c.1893-39491G>T
c.1893-39491G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36806776
chr21:36806799 C
C
 T
T
 1 a0001c0001t0005g0004
a0001c0001t0005g0004
 1 HG02080.hp2
HG02080.hp2
 intron_variant MODIFIER c.1893-39514G>A
c.1893-39514G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36806799
chr21:36806886 G
G
 A
A
 2 a0001c0001t0004g0045
a0001c0001t0018g0189
a0001c0001t0004g0045
a0001c0001t0018g0189
 2 HG01952.hp2
HG02486.hp1
HG01952.hp2
HG02486.hp1
 intron_variant MODIFIER c.1893-39601C>T
c.1893-39601C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36806886
chr21:36806958 C
C
 G
G
 1 a0001c0001t0005g0021
a0001c0001t0005g0021
 1 NA18950.hp1
NA18950.hp1
 intron_variant MODIFIER c.1893-39673G>C
c.1893-39673G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36806958
chr21:36807017 C
C
 T
T
 7 a0001c0001t0001g0068
a0001c0001t0001g0080
a0001c0001t0006g0019
others(4): Show 
a0001c0001t0001g0068
a0001c0001t0001g0080
a0001c0001t0006g0019
a0001c0001t0014g0241
a0001c0001t0039g0126
a0001c0001t0049g0233
a0001c0001t0094g0031
 7 HG00438.hp1
HG00673.hp2
NA18941.hp1
others(4): Show 
HG00438.hp1
HG00673.hp2
NA18941.hp1
NA18941.hp2
NA18948.hp2
NA18977.hp2
NA19009.hp1
 intron_variant MODIFIER c.1893-39732G>A
c.1893-39732G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36807017
chr21:36807219 A
A
 G
G
 2 a0001c0001t0019g0101
a0002c0002t0064g0243
a0001c0001t0019g0101
a0002c0002t0064g0243
 2 HG03041.hp1
NA19030.hp1
HG03041.hp1
NA19030.hp1
 intron_variant MODIFIER c.1893-39934T>C
c.1893-39934T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36807219
chr21:36807290 C
C
 T
T
 29 a0001c0001t0001g0122
a0001c0001t0002g0174
a0001c0001t0002g0238
others(26): Show 
a0001c0001t0001g0122
a0001c0001t0002g0174
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0226
a0001c0001t0003g0244
a0001c0001t0005g0021
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0007g0227
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0013g0223
a0001c0001t0016g0106
a0001c0001t0020g0034
a0001c0001t0028g0167
a0001c0001t0035g0097
a0001c0001t0084g0075
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0098g0035
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0003t0003g0199
a0001c0004t0042g0209
a0001c0004t0072g0248
a0006c0016t0001g0116
 29 HG00438.hp2
HG00735.hp1
HG01071.hp1
others(26): Show 
HG00438.hp2
HG00735.hp1
HG01071.hp1
HG01255.hp1
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01361.hp2
HG02040.hp1
HG02083.hp1
HG02135.hp1
HG03098.hp1
HG03225.hp1
HG03471.hp2
HG03669.hp1
NA18612.hp2
NA18940.hp2
NA18942.hp1
NA18945.hp2
NA18950.hp1
NA18952.hp2
NA18975.hp1
NA18984.hp1
NA18989.hp1
NA19004.hp2
NA19074.hp2
NA20129.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-40005G>A
c.1893-40005G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36807290
chr21:36807371 C
C
 T
T
 4 a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0004t0067g0067
others(1): Show 
a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0004t0067g0067
a0002c0002t0025g0149
 4 HG01891.hp1
HG02559.hp1
HG03516.hp1
others(1): Show 
HG01891.hp1
HG02559.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.1893-40086G>A
c.1893-40086G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36807371
chr21:36807390 G
G
 T
T
 2 a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0007t0007g0200
a0001c0007t0012g0207
 2 HG01109.hp2
HG02257.hp1
HG01109.hp2
HG02257.hp1
 intron_variant MODIFIER c.1893-40105C>A
c.1893-40105C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36807390
chr21:36807396 C
C
 T
T
 28 a0001c0001t0001g0017
a0001c0001t0001g0027
a0001c0001t0001g0128
others(25): Show 
a0001c0001t0001g0017
a0001c0001t0001g0027
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0230
a0001c0001t0005g0115
a0001c0001t0006g0012
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0013g0231
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0020g0002
a0001c0001t0057g0225
a0001c0010t0011g0020
a0001c0015t0052g0239
a0001c0018t0004g0060
 28 HG01070.hp2
HG01071.hp2
HG01168.hp2
others(25): Show 
HG01070.hp2
HG01071.hp2
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG01978.hp1
HG02080.hp1
HG02300.hp2
HG02622.hp1
HG03490.hp2
HG03669.hp2
HG03710.hp2
HG04115.hp2
HG04228.hp2
NA18944.hp1
NA18948.hp1
NA18951.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18979.hp1
NA18993.hp2
NA19004.hp1
NA19009.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19084.hp1
 intron_variant MODIFIER c.1893-40111G>A
c.1893-40111G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36807396
chr21:36807536 C
C
 T
T
 1 a0002c0002t0013g0147
a0002c0002t0013g0147
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.1893-40251G>A
c.1893-40251G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36807536
chr21:36807633 T
T
 G
G
 12 a0001c0001t0006g0256
a0001c0001t0018g0176
a0001c0001t0030g0257
others(9): Show 
a0001c0001t0006g0256
a0001c0001t0018g0176
a0001c0001t0030g0257
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0007t0007g0200
a0001c0007t0012g0207
a0002c0002t0043g0152
a0005c0011t0033g0139
 12 HG00323.hp1
HG01106.hp1
HG01109.hp2
others(9): Show 
HG00323.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02615.hp2
HG02886.hp2
HG02976.hp2
HG03130.hp2
HG03471.hp1
 intron_variant MODIFIER c.1893-40348A>C
c.1893-40348A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36807633
chr21:36807730 C
C
 G
G
 6 a0001c0001t0037g0254
a0001c0004t0068g0088
a0001c0006t0023g0212
others(3): Show 
a0001c0001t0037g0254
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
a0002c0002t0048g0144
 6 HG02109.hp2
HG02145.hp1
HG03195.hp1
others(3): Show 
HG02109.hp2
HG02145.hp1
HG03195.hp1
HG03195.hp2
HG03516.hp2
NA19043.hp2
 intron_variant MODIFIER c.1893-40445G>C
c.1893-40445G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36807730
chr21:36808051 TA
TA
 T
T
 239 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(236): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 239 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(236): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-40767delT
c.1893-40767delT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36808051
chr21:36808051 TAA
TAA
 T
T
 17 a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
others(14): Show 
a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0022g0187
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0038g0054
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0069g0255
a0001c0001t0085g0110
a0001c0001t0093g0133
a0001c0001t0110g0023
a0001c0004t0004g0046
a0003c0005t0002g0195
a0003c0005t0027g0218
 17 HG01099.hp2
HG01884.hp1
HG02280.hp1
others(14): Show 
HG01099.hp2
HG01884.hp1
HG02280.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp1
HG03209.hp1
HG03453.hp1
HG03579.hp1
HG06807.hp2
NA18968.hp1
NA20129.hp1
 intron_variant MODIFIER c.1893-40768_1893-40
others(8): Show 
c.1893-40768_1893-40767delTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36808051
chr21:36808704 T
T
 A
A
 3 a0001c0001t0002g0193
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0002g0193
a0001c0001t0105g0053
a0001c0001t0107g0050
 3 HG01884.hp2
HG02572.hp1
HG03453.hp2
HG01884.hp2
HG02572.hp1
HG03453.hp2
 intron_variant MODIFIER c.1893-41419A>T
c.1893-41419A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36808704
chr21:36808800 A
A
 G
G
 33 a0001c0001t0001g0122
a0001c0001t0002g0174
a0001c0001t0002g0238
others(30): Show 
a0001c0001t0001g0122
a0001c0001t0002g0174
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0226
a0001c0001t0003g0244
a0001c0001t0005g0021
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0007g0227
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0013g0223
a0001c0001t0016g0106
a0001c0001t0020g0034
a0001c0001t0028g0167
a0001c0001t0031g0245
a0001c0001t0035g0097
a0001c0001t0073g0246
a0001c0001t0084g0075
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0098g0035
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0003t0003g0199
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0072g0248
a0002c0002t0025g0149
a0006c0016t0001g0116
 33 HG00438.hp2
HG00735.hp1
HG01071.hp1
others(30): Show 
HG00438.hp2
HG00735.hp1
HG01071.hp1
HG01255.hp1
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01361.hp2
HG01891.hp1
HG02040.hp1
HG02083.hp1
HG02135.hp1
HG02559.hp1
HG03098.hp1
HG03225.hp1
HG03471.hp2
HG03516.hp1
HG03669.hp1
HG06807.hp1
NA18612.hp2
NA18940.hp2
NA18942.hp1
NA18945.hp2
NA18950.hp1
NA18952.hp2
NA18975.hp1
NA18984.hp1
NA18989.hp1
NA19004.hp2
NA19074.hp2
NA20129.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-41515T>C
c.1893-41515T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36808800
chr21:36808848 A
A
 C
C
 1 a0001c0001t0001g0077
a0001c0001t0001g0077
 1 NA18959.hp1
NA18959.hp1
 intron_variant MODIFIER c.1893-41563T>G
c.1893-41563T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36808848
chr21:36808866 G
G
 A
A
 1 a0001c0001t0033g0104
a0001c0001t0033g0104
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.1893-41581C>T
c.1893-41581C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36808866
chr21:36809213 T
T
 TA
TA
 34 a0001c0001t0001g0122
a0001c0001t0002g0174
a0001c0001t0002g0238
others(31): Show 
a0001c0001t0001g0122
a0001c0001t0002g0174
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0226
a0001c0001t0003g0244
a0001c0001t0005g0021
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0007g0227
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0013g0223
a0001c0001t0016g0106
a0001c0001t0019g0101
a0001c0001t0020g0034
a0001c0001t0028g0167
a0001c0001t0031g0245
a0001c0001t0035g0097
a0001c0001t0073g0246
a0001c0001t0084g0075
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0098g0035
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0003t0003g0199
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0072g0248
a0001c0017t0108g0082
a0002c0002t0025g0149
a0006c0016t0001g0116
 34 HG00438.hp2
HG00735.hp1
HG01071.hp1
others(31): Show 
HG00438.hp2
HG00735.hp1
HG01071.hp1
HG01255.hp1
HG01256.hp2
HG01346.hp1
HG01361.hp2
HG01891.hp1
HG02040.hp1
HG02083.hp1
HG02135.hp1
HG02559.hp1
HG03098.hp1
HG03195.hp1
HG03225.hp1
HG03471.hp2
HG03516.hp1
HG03669.hp1
HG06807.hp1
NA18612.hp2
NA18940.hp2
NA18942.hp1
NA18945.hp2
NA18950.hp1
NA18952.hp2
NA18975.hp1
NA18984.hp1
NA18989.hp1
NA19004.hp2
NA19030.hp1
NA19074.hp2
NA20129.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-41929dupT
c.1893-41929dupT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36809213
chr21:36809213 T
T
 TAA
TAA
 5 a0001c0001t0037g0254
a0001c0004t0068g0088
a0001c0006t0023g0212
others(2): Show 
a0001c0001t0037g0254
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0002c0002t0048g0144
 5 HG02109.hp2
HG02145.hp1
HG03195.hp2
others(2): Show 
HG02109.hp2
HG02145.hp1
HG03195.hp2
HG03516.hp2
NA19043.hp2
 intron_variant MODIFIER c.1893-41930_1893-41
others(8): Show 
c.1893-41930_1893-41929dupTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36809213
chr21:36809227 T
T
 A
A
 6 a0001c0001t0037g0254
a0001c0004t0068g0088
a0001c0006t0023g0212
others(3): Show 
a0001c0001t0037g0254
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
a0002c0002t0048g0144
 6 HG02109.hp2
HG02145.hp1
HG03195.hp1
others(3): Show 
HG02109.hp2
HG02145.hp1
HG03195.hp1
HG03195.hp2
HG03516.hp2
NA19043.hp2
 intron_variant MODIFIER c.1893-41942A>T
c.1893-41942A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36809227
chr21:36809233 G
G
 T
T
 1 a0001c0001t0001g0028
a0001c0001t0001g0028
 1 HG02129.hp2
HG02129.hp2
 intron_variant MODIFIER c.1893-41948C>A
c.1893-41948C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36809233
chr21:36809268 A
A
 G
G
 68 a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0027
others(65): Show 
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0027
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0005g0021
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0005g0115
a0001c0001t0006g0012
a0001c0001t0007g0227
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0106
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0028g0167
a0001c0001t0031g0245
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0057g0225
a0001c0001t0073g0246
a0001c0001t0084g0075
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0098g0035
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0003t0003g0199
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0010t0011g0020
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0025g0149
a0002c0002t0048g0144
a0006c0016t0001g0116
 68 HG00438.hp2
HG00735.hp1
HG01070.hp2
others(65): Show 
HG00438.hp2
HG00735.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG01255.hp1
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01361.hp2
HG01891.hp1
HG01978.hp1
HG02040.hp1
HG02080.hp1
HG02083.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp1
HG02300.hp2
HG02523.hp1
HG02559.hp1
HG02622.hp1
HG03098.hp1
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03471.hp2
HG03490.hp2
HG03516.hp1
HG03516.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp2
HG04115.hp2
HG04228.hp2
HG06807.hp1
NA18612.hp2
NA18940.hp2
NA18942.hp1
NA18944.hp1
NA18945.hp2
NA18948.hp1
NA18950.hp1
NA18951.hp2
NA18952.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18975.hp1
NA18979.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp2
NA19043.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA20129.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-41983T>C
c.1893-41983T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36809268
chr21:36809355 T
T
 C
C
 1 a0001c0001t0063g0208
a0001c0001t0063g0208
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.1893-42070A>G
c.1893-42070A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36809355
chr21:36809491 T
T
 C
C
 5 a0001c0001t0037g0254
a0001c0006t0023g0212
a0001c0006t0023g0222
others(2): Show 
a0001c0001t0037g0254
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
a0002c0002t0048g0144
 5 HG02109.hp2
HG02145.hp1
HG03195.hp1
others(2): Show 
HG02109.hp2
HG02145.hp1
HG03195.hp1
HG03516.hp2
NA19043.hp2
 intron_variant MODIFIER c.1893-42206A>G
c.1893-42206A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36809491
chr21:36809540 T
T
 C
C
 1 a0003c0005t0092g0134
a0003c0005t0092g0134
 1 HG01175.hp2
HG01175.hp2
 intron_variant MODIFIER c.1893-42255A>G
c.1893-42255A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36809540
chr21:36809633 T
T
 C
C
 49 a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0027
others(46): Show 
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0027
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0230
a0001c0001t0005g0115
a0001c0001t0006g0012
a0001c0001t0006g0109
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0009g0178
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0013g0231
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0020g0002
a0001c0001t0037g0254
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0057g0225
a0001c0001t0061g0163
a0001c0001t0066g0059
a0001c0001t0081g0016
a0001c0001t0086g0044
a0001c0001t0090g0005
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0010t0011g0020
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0041g0148
a0002c0002t0048g0144
 49 HG00280.hp2
HG00323.hp2
HG00639.hp1
others(46): Show 
HG00280.hp2
HG00323.hp2
HG00639.hp1
HG01070.hp2
HG01071.hp2
HG01106.hp2
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG01496.hp1
HG01975.hp1
HG01978.hp1
HG02080.hp1
HG02109.hp2
HG02145.hp1
HG02300.hp2
HG02523.hp1
HG02622.hp1
HG02683.hp2
HG03195.hp1
HG03195.hp2
HG03490.hp2
HG03492.hp2
HG03516.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG04228.hp2
NA18944.hp1
NA18948.hp1
NA18951.hp2
NA18961.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18979.hp1
NA18993.hp2
NA19004.hp1
NA19009.hp2
NA19043.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19084.hp1
 intron_variant MODIFIER c.1893-42348A>G
c.1893-42348A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36809633
chr21:36809668 A
A
 G
G
 1 a0001c0001t0003g0228
a0001c0001t0003g0228
 1 NA18950.hp2
NA18950.hp2
 intron_variant MODIFIER c.1893-42383T>C
c.1893-42383T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36809668
chr21:36809888 A
A
 G
G
 2 a0001c0001t0008g0055
a0001c0001t0091g0042
a0001c0001t0008g0055
a0001c0001t0091g0042
 2 HG02602.hp2
HG02683.hp1
HG02602.hp2
HG02683.hp1
 intron_variant MODIFIER c.1893-42603T>C
c.1893-42603T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36809888
chr21:36809950 G
G
 A
A
 29 a0001c0001t0001g0122
a0001c0001t0002g0174
a0001c0001t0002g0238
others(26): Show 
a0001c0001t0001g0122
a0001c0001t0002g0174
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0226
a0001c0001t0003g0244
a0001c0001t0005g0021
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0007g0227
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0013g0223
a0001c0001t0016g0106
a0001c0001t0020g0034
a0001c0001t0028g0167
a0001c0001t0035g0097
a0001c0001t0084g0075
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0098g0035
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0003t0003g0199
a0001c0004t0042g0209
a0001c0004t0072g0248
a0006c0016t0001g0116
 29 HG00438.hp2
HG00735.hp1
HG01071.hp1
others(26): Show 
HG00438.hp2
HG00735.hp1
HG01071.hp1
HG01255.hp1
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01361.hp2
HG02040.hp1
HG02083.hp1
HG02135.hp1
HG03098.hp1
HG03225.hp1
HG03471.hp2
HG03669.hp1
NA18612.hp2
NA18940.hp2
NA18942.hp1
NA18945.hp2
NA18950.hp1
NA18952.hp2
NA18975.hp1
NA18984.hp1
NA18989.hp1
NA19004.hp2
NA19074.hp2
NA20129.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-42665C>T
c.1893-42665C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36809950
chr21:36810094 C
C
 T
T
 3 a0001c0001t0001g0074
a0001c0001t0004g0032
a0001c0001t0100g0073
a0001c0001t0001g0074
a0001c0001t0004g0032
a0001c0001t0100g0073
 3 HG00280.hp1
HG01169.hp2
HG01515.hp1
HG00280.hp1
HG01169.hp2
HG01515.hp1
 intron_variant MODIFIER c.1893-42809G>A
c.1893-42809G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36810094
chr21:36810131 T
T
 G
G
 3 a0001c0001t0001g0074
a0001c0001t0004g0032
a0001c0001t0100g0073
a0001c0001t0001g0074
a0001c0001t0004g0032
a0001c0001t0100g0073
 3 HG00280.hp1
HG01169.hp2
HG01515.hp1
HG00280.hp1
HG01169.hp2
HG01515.hp1
 intron_variant MODIFIER c.1893-42846A>C
c.1893-42846A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36810131
chr21:36810243 G
G
 C
C
 4 a0001c0001t0109g0119
a0001c0003t0111g0137
a0002c0002t0018g0153
others(1): Show 
a0001c0001t0109g0119
a0001c0003t0111g0137
a0002c0002t0018g0153
a0009c0009t0012g0196
 4 HG02647.hp1
HG02717.hp2
HG02965.hp2
others(1): Show 
HG02647.hp1
HG02717.hp2
HG02965.hp2
NA18522.hp2
 intron_variant MODIFIER c.1893-42958C>G
c.1893-42958C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36810243
chr21:36810405 G
G
 A
A
 7 a0001c0001t0006g0256
a0001c0001t0018g0176
a0001c0001t0030g0257
others(4): Show 
a0001c0001t0006g0256
a0001c0001t0018g0176
a0001c0001t0030g0257
a0001c0001t0032g0081
a0001c0001t0032g0111
a0002c0002t0043g0152
a0005c0011t0033g0139
 7 HG02145.hp2
HG02257.hp2
HG02615.hp2
others(4): Show 
HG02145.hp2
HG02257.hp2
HG02615.hp2
HG02886.hp2
HG02976.hp2
HG03130.hp2
HG03471.hp1
 intron_variant MODIFIER c.1893-43120C>T
c.1893-43120C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36810405
chr21:36810551 T
T
 G
G
 81 a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0027
others(78): Show 
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0027
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0005g0021
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0005g0115
a0001c0001t0006g0012
a0001c0001t0006g0109
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0227
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0013g0231
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0106
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0028g0167
a0001c0001t0031g0245
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0057g0225
a0001c0001t0061g0163
a0001c0001t0066g0059
a0001c0001t0073g0246
a0001c0001t0081g0016
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0098g0035
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0003t0003g0199
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0010t0011g0020
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0025g0149
a0002c0002t0041g0148
a0002c0002t0048g0144
a0006c0016t0001g0116
 81 HG00280.hp2
HG00323.hp2
HG00438.hp2
others(78): Show 
HG00280.hp2
HG00323.hp2
HG00438.hp2
HG00639.hp1
HG00735.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp2
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG01255.hp1
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01361.hp2
HG01496.hp1
HG01891.hp1
HG01975.hp1
HG01978.hp1
HG02040.hp1
HG02080.hp1
HG02083.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp1
HG02300.hp2
HG02523.hp1
HG02559.hp1
HG02622.hp1
HG02683.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18612.hp2
NA18940.hp2
NA18942.hp1
NA18944.hp1
NA18945.hp2
NA18948.hp1
NA18950.hp1
NA18951.hp2
NA18952.hp2
NA18961.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18975.hp1
NA18979.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp2
NA19043.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA20129.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-43266A>C
c.1893-43266A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36810551
chr21:36810656 G
G
 A
A
 29 a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0027
others(26): Show 
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0027
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0230
a0001c0001t0005g0115
a0001c0001t0006g0012
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0013g0231
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0020g0002
a0001c0001t0057g0225
a0001c0010t0011g0020
a0001c0015t0052g0239
a0001c0018t0004g0060
 29 HG01070.hp2
HG01071.hp2
HG01168.hp2
others(26): Show 
HG01070.hp2
HG01071.hp2
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG01978.hp1
HG02080.hp1
HG02300.hp2
HG02523.hp1
HG02622.hp1
HG03490.hp2
HG03669.hp2
HG03710.hp2
HG04115.hp2
HG04228.hp2
NA18944.hp1
NA18948.hp1
NA18951.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18979.hp1
NA18993.hp2
NA19004.hp1
NA19009.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19084.hp1
 intron_variant MODIFIER c.1893-43371C>T
c.1893-43371C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36810656
chr21:36810750 A
A
 C
C
 16 a0001c0001t0001g0043
a0001c0001t0004g0138
a0001c0001t0008g0018
others(13): Show 
a0001c0001t0001g0043
a0001c0001t0004g0138
a0001c0001t0008g0018
a0001c0001t0011g0107
a0001c0001t0013g0223
a0001c0001t0047g0188
a0001c0001t0065g0252
a0001c0001t0078g0108
a0001c0001t0106g0253
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0015g0142
a0002c0002t0027g0157
a0003c0005t0058g0214
a0004c0019t0112g0258
 16 HG01175.hp1
HG01981.hp2
HG02135.hp2
others(13): Show 
HG01175.hp1
HG01981.hp2
HG02135.hp2
HG02300.hp1
HG02602.hp1
HG02622.hp2
HG02723.hp1
HG02895.hp2
HG03041.hp2
HG03098.hp1
HG03239.hp1
HG03540.hp2
NA18939.hp2
NA18942.hp2
NA18951.hp1
NA18961.hp1
 intron_variant MODIFIER c.1893-43465T>G
c.1893-43465T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36810750
chr21:36810815 G
G
 T
T
 18 a0001c0001t0006g0132
a0001c0001t0010g0213
a0001c0001t0015g0141
others(15): Show 
a0001c0001t0006g0132
a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0022g0187
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0038g0054
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0069g0255
a0001c0001t0093g0133
a0001c0004t0004g0046
a0003c0005t0002g0195
a0003c0005t0027g0218
 18 HG01099.hp2
HG01257.hp2
HG01258.hp1
others(15): Show 
HG01099.hp2
HG01257.hp2
HG01258.hp1
HG01884.hp1
HG02280.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03209.hp1
HG03453.hp1
HG03579.hp1
NA20129.hp1
 intron_variant MODIFIER c.1893-43530C>A
c.1893-43530C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36810815
chr21:36810829 A
A
 G
G
 94 a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0027
others(91): Show 
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0027
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0005g0021
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0005g0115
a0001c0001t0006g0012
a0001c0001t0006g0109
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0227
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0013g0231
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0028g0167
a0001c0001t0030g0257
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0057g0225
a0001c0001t0061g0163
a0001c0001t0066g0059
a0001c0001t0073g0246
a0001c0001t0081g0016
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0098g0035
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0025g0149
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0048g0144
a0005c0011t0033g0139
a0006c0016t0001g0116
 94 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(91): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00639.hp1
HG00735.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG01255.hp1
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01361.hp2
HG01496.hp1
HG01891.hp1
HG01975.hp1
HG01978.hp1
HG02040.hp1
HG02080.hp1
HG02083.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02300.hp2
HG02523.hp1
HG02559.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp2
HG02886.hp2
HG02976.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18612.hp2
NA18940.hp2
NA18942.hp1
NA18944.hp1
NA18945.hp2
NA18948.hp1
NA18950.hp1
NA18951.hp2
NA18952.hp2
NA18961.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18975.hp1
NA18979.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp2
NA19043.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA20129.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-43544T>C
c.1893-43544T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36810829
chr21:36810861 A
A
 G
G
 2 a0001c0001t0082g0112
a0001c0001t0096g0025
a0001c0001t0082g0112
a0001c0001t0096g0025
 2 HG01346.hp2
HG01981.hp1
HG01346.hp2
HG01981.hp1
 intron_variant MODIFIER c.1893-43576T>C
c.1893-43576T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36810861
chr21:36811079 C
C
 CGAT
CGAT
 68 a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0027
others(65): Show 
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0027
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0005g0021
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0005g0115
a0001c0001t0006g0012
a0001c0001t0007g0227
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0013g0231
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0106
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0031g0245
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0057g0225
a0001c0001t0073g0246
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0098g0035
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0003t0003g0199
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0010t0011g0020
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0025g0149
a0002c0002t0048g0144
a0006c0016t0001g0116
 68 HG00438.hp2
HG00735.hp1
HG01070.hp2
others(65): Show 
HG00438.hp2
HG00735.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG01255.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01361.hp2
HG01891.hp1
HG01978.hp1
HG02040.hp1
HG02080.hp1
HG02083.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp1
HG02300.hp2
HG02523.hp1
HG02559.hp1
HG02622.hp1
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03490.hp2
HG03516.hp1
HG03516.hp2
HG03669.hp1
HG03669.hp2
HG03710.hp2
HG04115.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18612.hp2
NA18940.hp2
NA18942.hp1
NA18944.hp1
NA18945.hp2
NA18948.hp1
NA18950.hp1
NA18951.hp2
NA18952.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18975.hp1
NA18979.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp2
NA19043.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA20129.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-43795_1893-43
others(9): Show 
c.1893-43795_1893-43794insATC
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36811079
chr21:36811115 T
T
 C
C
 5 a0001c0001t0037g0254
a0001c0006t0023g0212
a0001c0006t0023g0222
others(2): Show 
a0001c0001t0037g0254
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
a0002c0002t0048g0144
 5 HG02109.hp2
HG02145.hp1
HG03195.hp1
others(2): Show 
HG02109.hp2
HG02145.hp1
HG03195.hp1
HG03516.hp2
NA19043.hp2
 intron_variant MODIFIER c.1893-43830A>G
c.1893-43830A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36811115
chr21:36811397 A
A
 G
G
 1 a0001c0001t0005g0021
a0001c0001t0005g0021
 1 NA18950.hp1
NA18950.hp1
 intron_variant MODIFIER c.1893-44112T>C
c.1893-44112T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36811397
chr21:36811483 A
A
 T
T
 1 a0001c0001t0002g0193
a0001c0001t0002g0193
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.1893-44198T>A
c.1893-44198T>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36811483
chr21:36811515 G
G
 A
A
 1 a0004c0019t0112g0258
a0004c0019t0112g0258
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.1893-44230C>T
c.1893-44230C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36811515
chr21:36811759 C
C
 A
A
 112 a0001c0001t0001g0010
a0001c0001t0001g0128
a0001c0001t0002g0158
others(109): Show 
a0001c0001t0001g0010
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0230
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0005g0115
a0001c0001t0006g0012
a0001c0001t0006g0109
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0009g0178
a0001c0001t0010g0164
a0001c0001t0010g0213
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0020g0002
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0047g0188
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0073g0246
a0001c0001t0075g0049
a0001c0001t0081g0016
a0001c0001t0085g0110
a0001c0001t0090g0005
a0001c0001t0093g0133
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0054g0217
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0005c0011t0033g0139
a0008c0012t0035g0069
 112 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(109): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00639.hp1
HG00735.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01243.hp1
HG01257.hp2
HG01258.hp1
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG02027.hp2
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18940.hp1
NA18951.hp2
NA18959.hp2
NA18968.hp2
NA18970.hp1
NA18971.hp2
NA18979.hp1
NA18993.hp2
NA19004.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp2
NA19068.hp2
NA19074.hp1
NA20129.hp1
 intron_variant MODIFIER c.1893-44474G>T
c.1893-44474G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36811759
chr21:36811831 A
A
 G
G
 27 a0001c0001t0002g0193
a0001c0001t0004g0015
a0001c0001t0006g0132
others(24): Show 
a0001c0001t0002g0193
a0001c0001t0004g0015
a0001c0001t0006g0132
a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0069g0255
a0001c0001t0105g0053
a0001c0001t0109g0119
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0018t0004g0060
a0002c0002t0015g0142
a0003c0005t0002g0195
a0003c0005t0027g0218
 27 HG00741.hp2
HG01243.hp1
HG01884.hp1
others(24): Show 
HG00741.hp2
HG01243.hp1
HG01884.hp1
HG01884.hp2
HG02109.hp2
HG02280.hp1
HG02572.hp1
HG02622.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03098.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03579.hp1
NA20129.hp1
 intron_variant MODIFIER c.1893-44546T>C
c.1893-44546T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36811831
chr21:36811883 T
T
 G
G
 1 a0001c0001t0004g0138
a0001c0001t0004g0138
 1 HG01175.hp1
HG01175.hp1
 intron_variant MODIFIER c.1893-44598A>C
c.1893-44598A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36811883
chr21:36811956 G
G
 C
C
 1 a0001c0001t0038g0054
a0001c0001t0038g0054
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.1893-44671C>G
c.1893-44671C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36811956
chr21:36812129 G
G
 A
A
 1 a0001c0001t0007g0162
a0001c0001t0007g0162
 1 HG00323.hp2
HG00323.hp2
 intron_variant MODIFIER c.1893-44844C>T
c.1893-44844C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36812129
chr21:36812215 T
T
 C
C
 16 a0001c0001t0002g0193
a0001c0001t0006g0132
a0001c0001t0010g0213
others(13): Show 
a0001c0001t0002g0193
a0001c0001t0006g0132
a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0038g0054
a0001c0001t0063g0208
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0004t0004g0046
a0003c0005t0002g0195
a0003c0005t0027g0218
a0007c0014t0070g0131
 16 HG00741.hp1
HG01884.hp2
HG02280.hp1
others(13): Show 
HG00741.hp1
HG01884.hp2
HG02280.hp1
HG02572.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03453.hp1
HG03453.hp2
HG03579.hp1
NA20129.hp1
 intron_variant MODIFIER c.1893-44930A>G
c.1893-44930A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36812215
chr21:36812325 T
T
 C
C
 5 a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0001t0085g0110
others(2): Show 
a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0001t0085g0110
a0001c0004t0067g0067
a0002c0002t0025g0149
 5 HG01891.hp1
HG02559.hp1
HG03516.hp1
others(2): Show 
HG01891.hp1
HG02559.hp1
HG03516.hp1
HG06807.hp1
HG06807.hp2
 intron_variant MODIFIER c.1893-45040A>G
c.1893-45040A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36812325
chr21:36812347 G
G
 C
C
 14 a0001c0001t0002g0174
a0001c0001t0003g0226
a0001c0001t0005g0021
others(11): Show 
a0001c0001t0002g0174
a0001c0001t0003g0226
a0001c0001t0005g0021
a0001c0001t0005g0056
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0021g0130
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0007t0007g0200
a0001c0007t0012g0207
a0008c0012t0035g0069
 14 HG00323.hp1
HG01106.hp1
HG01109.hp2
others(11): Show 
HG00323.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01256.hp2
HG01258.hp2
HG02027.hp2
HG02257.hp1
HG03669.hp1
NA18940.hp1
NA18942.hp1
NA18950.hp1
NA18984.hp1
NA20805.hp2
 intron_variant MODIFIER c.1893-45062C>G
c.1893-45062C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36812347
chr21:36812395 C
C
 T
T
 5 a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0001t0085g0110
others(2): Show 
a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0001t0085g0110
a0001c0004t0067g0067
a0002c0002t0025g0149
 5 HG01891.hp1
HG02559.hp1
HG03516.hp1
others(2): Show 
HG01891.hp1
HG02559.hp1
HG03516.hp1
HG06807.hp1
HG06807.hp2
 intron_variant MODIFIER c.1893-45110G>A
c.1893-45110G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36812395
chr21:36812400 C
C
 T
T
 1 a0001c0001t0004g0045
a0001c0001t0004g0045
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.1893-45115G>A
c.1893-45115G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36812400
chr21:36812434 C
C
 T
T
 66 a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
others(63): Show 
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0005g0021
a0001c0001t0005g0056
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0019g0247
a0001c0001t0021g0130
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0030g0048
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0038g0102
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0061g0163
a0001c0001t0075g0049
a0001c0001t0081g0016
a0001c0001t0090g0005
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0017t0108g0082
a0002c0002t0018g0153
a0003c0005t0092g0134
a0008c0012t0035g0069
a0009c0009t0012g0196
 66 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(63): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01496.hp1
HG01975.hp1
HG02027.hp2
HG02109.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02300.hp2
HG02486.hp1
HG02572.hp2
HG02647.hp1
HG02683.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03927.hp2
HG04204.hp2
NA18522.hp2
NA18940.hp1
NA18942.hp1
NA18944.hp1
NA18950.hp1
NA18951.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18975.hp1
NA18984.hp1
NA18993.hp2
NA19030.hp2
NA19043.hp2
NA19068.hp2
NA19240.hp1
NA20805.hp2
 intron_variant MODIFIER c.1893-45149G>A
c.1893-45149G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36812434
chr21:36812554 C
C
 T
T
 3 a0001c0001t0022g0187
a0001c0001t0069g0255
a0001c0001t0093g0133
a0001c0001t0022g0187
a0001c0001t0069g0255
a0001c0001t0093g0133
 3 HG01099.hp2
HG01884.hp1
HG02809.hp2
HG01099.hp2
HG01884.hp1
HG02809.hp2
 intron_variant MODIFIER c.1893-45269G>A
c.1893-45269G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36812554
chr21:36812732 A
A
 T
T
 1 a0001c0003t0054g0217
a0001c0003t0054g0217
 1 HG02129.hp1
HG02129.hp1
 intron_variant MODIFIER c.1893-45447T>A
c.1893-45447T>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36812732
chr21:36813139 T
T
 C
C
 5 a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0001t0085g0110
others(2): Show 
a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0001t0085g0110
a0001c0004t0067g0067
a0002c0002t0025g0149
 5 HG01891.hp1
HG02559.hp1
HG03516.hp1
others(2): Show 
HG01891.hp1
HG02559.hp1
HG03516.hp1
HG06807.hp1
HG06807.hp2
 intron_variant MODIFIER c.1893-45854A>G
c.1893-45854A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36813139
chr21:36813243 C
C
 T
T
 5 a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0001t0085g0110
others(2): Show 
a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0001t0085g0110
a0001c0004t0067g0067
a0002c0002t0025g0149
 5 HG01891.hp1
HG02559.hp1
HG03516.hp1
others(2): Show 
HG01891.hp1
HG02559.hp1
HG03516.hp1
HG06807.hp1
HG06807.hp2
 intron_variant MODIFIER c.1893-45958G>A
c.1893-45958G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36813243
chr21:36813300 G
G
 A
A
 1 a0001c0001t0001g0010
a0001c0001t0001g0010
 1 NA18959.hp2
NA18959.hp2
 intron_variant MODIFIER c.1893-46015C>T
c.1893-46015C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36813300
chr21:36813407 T
T
 C
C
 3 a0001c0001t0002g0179
a0001c0001t0003g0184
a0001c0001t0098g0035
a0001c0001t0002g0179
a0001c0001t0003g0184
a0001c0001t0098g0035
 3 NA18968.hp2
NA18975.hp1
NA19068.hp2
NA18968.hp2
NA18975.hp1
NA19068.hp2
 intron_variant MODIFIER c.1893-46122A>G
c.1893-46122A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36813407
chr21:36813467 A
A
 G
G
 17 a0001c0001t0002g0193
a0001c0001t0006g0132
a0001c0001t0019g0101
others(14): Show 
a0001c0001t0002g0193
a0001c0001t0006g0132
a0001c0001t0019g0101
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0004t0042g0209
a0001c0004t0072g0248
a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0040g0242
a0002c0002t0062g0145
a0002c0002t0064g0243
a0007c0014t0070g0131
 17 HG00735.hp1
HG00741.hp1
HG01884.hp2
others(14): Show 
HG00735.hp1
HG00741.hp1
HG01884.hp2
HG02109.hp2
HG02280.hp2
HG02559.hp2
HG02572.hp1
HG02809.hp1
HG02818.hp2
HG02922.hp2
HG02976.hp1
HG03041.hp1
HG03139.hp2
HG03209.hp2
HG03453.hp2
HG03471.hp2
NA19030.hp1
 intron_variant MODIFIER c.1893-46182T>C
c.1893-46182T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36813467
chr21:36813481 G
G
 C
C
 46 a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0002g0232
others(43): Show 
a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0005g0115
a0001c0001t0008g0078
a0001c0001t0010g0213
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0098
a0001c0001t0018g0176
a0001c0001t0019g0101
a0001c0001t0020g0002
a0001c0001t0028g0167
a0001c0001t0031g0245
a0001c0001t0051g0168
a0001c0001t0057g0225
a0001c0001t0063g0208
a0001c0001t0073g0246
a0001c0001t0085g0110
a0001c0001t0109g0119
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0004g0046
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0072g0248
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0018t0004g0060
a0002c0002t0025g0149
a0002c0002t0040g0242
a0002c0002t0043g0152
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0005c0011t0033g0139
a0007c0014t0070g0131
 46 HG00735.hp1
HG00741.hp1
HG01891.hp1
others(43): Show 
HG00735.hp1
HG00741.hp1
HG01891.hp1
HG02080.hp1
HG02129.hp1
HG02280.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02723.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03225.hp1
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03579.hp1
HG03710.hp2
HG03927.hp1
HG04115.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18939.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp2
NA18952.hp2
NA18959.hp2
NA18971.hp2
NA18979.hp1
NA19004.hp1
NA19009.hp2
NA19030.hp1
NA19084.hp1
NA20129.hp1
 intron_variant MODIFIER c.1893-46196C>G
c.1893-46196C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36813481
chr21:36813581 C
C
 T
T
 136 a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0001g0128
others(133): Show 
a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0098
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0069g0255
a0001c0001t0073g0246
a0001c0001t0075g0049
a0001c0001t0081g0016
a0001c0001t0085g0110
a0001c0001t0090g0005
a0001c0001t0093g0133
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0040g0242
a0002c0002t0043g0152
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0092g0134
a0005c0011t0033g0139
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 136 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(133): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
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.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18944.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp2
NA18959.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp2
NA18975.hp1
NA18979.hp1
NA18984.hp1
NA18993.hp2
NA19004.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19084.hp1
NA19240.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1893-46296G>A
c.1893-46296G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36813581
chr21:36813593 T
T
 C
C
 5 a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0001t0085g0110
others(2): Show 
a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0001t0085g0110
a0001c0004t0067g0067
a0002c0002t0025g0149
 5 HG01891.hp1
HG02559.hp1
HG03516.hp1
others(2): Show 
HG01891.hp1
HG02559.hp1
HG03516.hp1
HG06807.hp1
HG06807.hp2
 intron_variant MODIFIER c.1893-46308A>G
c.1893-46308A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36813593
chr21:36813715 A
A
 G
G
 1 a0001c0003t0111g0137
a0001c0003t0111g0137
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.1893-46430T>C
c.1893-46430T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36813715
chr21:36813801 T
T
 C
C
 1 a0001c0001t0097g0038
a0001c0001t0097g0038
 1 NA18967.hp2
NA18967.hp2
 intron_variant MODIFIER c.1893-46516A>G
c.1893-46516A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36813801
chr21:36814025 C
C
 A
A
 1 a0001c0001t0003g0173
a0001c0001t0003g0173
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.1893-46740G>T
c.1893-46740G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36814025
chr21:36814034 T
T
 C
C
 20 a0001c0001t0010g0213
a0001c0001t0013g0223
a0001c0001t0015g0141
others(17): Show 
a0001c0001t0010g0213
a0001c0001t0013g0223
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0018g0176
a0001c0001t0019g0061
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0063g0208
a0001c0001t0073g0246
a0001c0001t0085g0110
a0001c0004t0004g0046
a0001c0004t0067g0067
a0002c0002t0025g0149
a0002c0002t0040g0242
a0002c0002t0043g0152
a0003c0005t0002g0195
a0003c0005t0027g0218
a0005c0011t0033g0139
 20 HG01109.hp1
HG01891.hp1
HG02280.hp1
others(17): Show 
HG01109.hp1
HG01891.hp1
HG02280.hp1
HG02559.hp1
HG02559.hp2
HG02717.hp1
HG02723.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03453.hp1
HG03471.hp1
HG03516.hp1
HG03579.hp1
HG06807.hp1
HG06807.hp2
NA20129.hp1
 intron_variant MODIFIER c.1893-46749A>G
c.1893-46749A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36814034
chr21:36814064 T
T
 C
C
 4 a0001c0001t0013g0223
a0001c0001t0019g0061
a0001c0001t0031g0057
others(1): Show 
a0001c0001t0013g0223
a0001c0001t0019g0061
a0001c0001t0031g0057
a0002c0002t0040g0242
 4 HG01109.hp1
HG02559.hp2
HG02717.hp1
others(1): Show 
HG01109.hp1
HG02559.hp2
HG02717.hp1
HG03098.hp1
 intron_variant MODIFIER c.1893-46779A>G
c.1893-46779A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36814064
chr21:36814082 C
C
 A
A
 7 a0001c0001t0006g0256
a0001c0001t0018g0189
a0001c0001t0024g0191
others(4): Show 
a0001c0001t0006g0256
a0001c0001t0018g0189
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0030g0257
a0001c0004t0017g0219
a0001c0004t0017g0220
 7 HG01952.hp2
HG02615.hp2
HG02896.hp1
others(4): Show 
HG01952.hp2
HG02615.hp2
HG02896.hp1
HG02897.hp2
HG03098.hp2
HG03130.hp2
HG03225.hp2
 intron_variant MODIFIER c.1893-46797G>T
c.1893-46797G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36814082
chr21:36814102 G
G
 A
A
 1 a0002c0002t0046g0150
a0002c0002t0046g0150
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.1893-46817C>T
c.1893-46817C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36814102
chr21:36814103 T
T
 A
A
 3 a0001c0001t0002g0238
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0002g0238
a0001c0001t0009g0235
a0001c0001t0009g0236
 3 HG01255.hp1
HG01361.hp2
NA20129.hp2
HG01255.hp1
HG01361.hp2
NA20129.hp2
 intron_variant MODIFIER c.1893-46818A>T
c.1893-46818A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36814103
chr21:36814144 C
C
 A
A
 1 a0001c0001t0056g0198
a0001c0001t0056g0198
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.1893-46859G>T
c.1893-46859G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36814144
chr21:36814345 G
G
 A
A
 1 a0001c0001t0018g0189
a0001c0001t0018g0189
 1 HG01952.hp2
HG01952.hp2
 intron_variant MODIFIER c.1893-47060C>T
c.1893-47060C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36814345
chr21:36814436 C
C
 T
T
 2 a0002c0002t0040g0242
a0002c0002t0064g0243
a0002c0002t0040g0242
a0002c0002t0064g0243
 2 HG02559.hp2
HG03041.hp1
HG02559.hp2
HG03041.hp1
 intron_variant MODIFIER c.1893-47151G>A
c.1893-47151G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36814436
chr21:36814516 T
T
 C
C
 2 a0001c0001t0019g0061
a0001c0001t0031g0057
a0001c0001t0019g0061
a0001c0001t0031g0057
 2 HG01109.hp1
HG02717.hp1
HG01109.hp1
HG02717.hp1
 intron_variant MODIFIER c.1893-47231A>G
c.1893-47231A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36814516
chr21:36814577 T
T
 C
C
 2 a0002c0002t0040g0242
a0002c0002t0064g0243
a0002c0002t0040g0242
a0002c0002t0064g0243
 2 HG02559.hp2
HG03041.hp1
HG02559.hp2
HG03041.hp1
 intron_variant MODIFIER c.1893-47292A>G
c.1893-47292A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36814577
chr21:36814734 T
T
 C
C
 1 a0001c0001t0012g0234
a0001c0001t0012g0234
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.1893-47449A>G
c.1893-47449A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36814734
chr21:36814772 G
G
 A
A
 1 a0001c0001t0082g0112
a0001c0001t0082g0112
 1 HG01981.hp1
HG01981.hp1
 intron_variant MODIFIER c.1893-47487C>T
c.1893-47487C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36814772
chr21:36814835 A
A
 G
G
 5 a0001c0001t0013g0223
a0001c0001t0019g0061
a0001c0001t0031g0057
others(2): Show 
a0001c0001t0013g0223
a0001c0001t0019g0061
a0001c0001t0031g0057
a0002c0002t0040g0242
a0002c0002t0064g0243
 5 HG01109.hp1
HG02559.hp2
HG02717.hp1
others(2): Show 
HG01109.hp1
HG02559.hp2
HG02717.hp1
HG03041.hp1
HG03098.hp1
 intron_variant MODIFIER c.1893-47550T>C
c.1893-47550T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36814835
chr21:36814909 G
G
 A
A
 12 a0001c0001t0001g0066
a0001c0001t0006g0256
a0001c0001t0018g0189
others(9): Show 
a0001c0001t0001g0066
a0001c0001t0006g0256
a0001c0001t0018g0189
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0030g0257
a0001c0001t0069g0255
a0001c0001t0093g0133
a0001c0004t0017g0219
a0001c0004t0017g0220
a0002c0002t0002g0143
 12 HG01099.hp2
HG01884.hp1
HG01952.hp2
others(9): Show 
HG01099.hp2
HG01884.hp1
HG01952.hp2
HG02615.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG03098.hp2
HG03130.hp2
HG03225.hp2
NA18993.hp1
NA19088.hp1
 intron_variant MODIFIER c.1893-47624C>T
c.1893-47624C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36814909
chr21:36815010 G
G
 T
T
 1 a0007c0014t0070g0131
a0007c0014t0070g0131
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.1893-47725C>A
c.1893-47725C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36815010
chr21:36815027 C
C
 CT
CT
 6 a0001c0001t0001g0043
a0001c0001t0022g0187
a0001c0001t0069g0255
others(3): Show 
a0001c0001t0001g0043
a0001c0001t0022g0187
a0001c0001t0069g0255
a0001c0001t0093g0133
a0003c0005t0002g0195
a0003c0005t0027g0218
 6 HG01099.hp2
HG01884.hp1
HG02300.hp1
others(3): Show 
HG01099.hp2
HG01884.hp1
HG02300.hp1
HG02809.hp2
HG03579.hp1
NA20129.hp1
 intron_variant MODIFIER c.1893-47743dupA
c.1893-47743dupA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36815027
chr21:36815038 T
T
 TA
TA
 7 a0001c0001t0006g0256
a0001c0001t0018g0189
a0001c0001t0024g0191
others(4): Show 
a0001c0001t0006g0256
a0001c0001t0018g0189
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0030g0257
a0001c0004t0017g0219
a0001c0004t0017g0220
 7 HG01952.hp2
HG02615.hp2
HG02896.hp1
others(4): Show 
HG01952.hp2
HG02615.hp2
HG02896.hp1
HG02897.hp2
HG03098.hp2
HG03130.hp2
HG03225.hp2
 intron_variant MODIFIER c.1893-47754_1893-47
others(7): Show 
c.1893-47754_1893-47753insT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36815038
chr21:36815292 G
G
 T
T
 1 a0001c0001t0085g0110
a0001c0001t0085g0110
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.1893-48007C>A
c.1893-48007C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36815292
chr21:36815330 CAAT
CAAT
 C
C
 69 a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
others(66): Show 
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0019g0247
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0030g0048
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0038g0102
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0061g0163
a0001c0001t0075g0049
a0001c0001t0081g0016
a0001c0001t0090g0005
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0017t0108g0082
a0002c0002t0018g0153
a0003c0005t0092g0134
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 69 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(66): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01496.hp1
HG01975.hp1
HG02109.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02300.hp2
HG02486.hp1
HG02572.hp2
HG02615.hp1
HG02647.hp1
HG02683.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp1
HG02976.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03927.hp2
HG04204.hp2
NA18522.hp2
NA18940.hp1
NA18942.hp1
NA18944.hp1
NA18950.hp1
NA18951.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18975.hp1
NA18984.hp1
NA18993.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19240.hp1
NA20805.hp2
 intron_variant MODIFIER c.1893-48048_1893-48
others(9): Show 
c.1893-48048_1893-48046delATT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36815330
chr21:36815596 G
G
 A
A
 3 a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
 3 HG02145.hp1
HG03195.hp1
NA19043.hp2
HG02145.hp1
HG03195.hp1
NA19043.hp2
 intron_variant MODIFIER c.1893-48311C>T
c.1893-48311C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36815596
chr21:36815608 GA
GA
 G
G
 3 a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0090g0005
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0090g0005
 3 HG03492.hp2
HG03927.hp2
HG04204.hp2
HG03492.hp2
HG03927.hp2
HG04204.hp2
 intron_variant MODIFIER c.1893-48324delT
c.1893-48324delT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36815608
chr21:36815632 A
A
 C
C
 1 a0001c0001t0013g0223
a0001c0001t0013g0223
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.1893-48347T>G
c.1893-48347T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36815632
chr21:36815809 C
C
 T
T
 8 a0001c0001t0005g0052
a0001c0001t0005g0135
a0001c0001t0006g0096
others(5): Show 
a0001c0001t0005g0052
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0127
a0001c0001t0019g0247
a0001c0001t0033g0104
a0001c0001t0056g0198
a0003c0005t0092g0134
 8 HG01175.hp2
HG02615.hp1
HG02895.hp1
others(5): Show 
HG01175.hp2
HG02615.hp1
HG02895.hp1
HG02897.hp1
HG03209.hp1
HG03540.hp1
NA19043.hp1
NA19240.hp1
 intron_variant MODIFIER c.1893-48524G>A
c.1893-48524G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36815809
chr21:36815845 G
G
 T
T
 81 a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
others(78): Show 
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0037g0254
a0001c0001t0038g0102
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0061g0163
a0001c0001t0075g0049
a0001c0001t0081g0016
a0001c0001t0090g0005
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0004t0042g0209
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0017t0108g0082
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0040g0242
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0092g0134
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 81 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(78): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01496.hp1
HG01975.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp1
HG02895.hp1
HG02897.hp1
HG02922.hp1
HG02976.hp1
HG03041.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03927.hp2
HG04204.hp2
NA18522.hp2
NA18940.hp1
NA18942.hp1
NA18944.hp1
NA18950.hp1
NA18951.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18975.hp1
NA18984.hp1
NA18993.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19240.hp1
NA20805.hp2
 intron_variant MODIFIER c.1893-48560C>A
c.1893-48560C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36815845
chr21:36816057 A
A
 G
G
 91 a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
others(88): Show 
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0037g0254
a0001c0001t0038g0102
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0061g0163
a0001c0001t0069g0255
a0001c0001t0075g0049
a0001c0001t0081g0016
a0001c0001t0090g0005
a0001c0001t0093g0133
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0042g0209
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0017t0108g0082
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0040g0242
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0092g0134
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 91 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(88): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01496.hp1
HG01884.hp1
HG01952.hp2
HG01975.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03927.hp2
HG04204.hp2
NA18522.hp2
NA18940.hp1
NA18942.hp1
NA18944.hp1
NA18950.hp1
NA18951.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18975.hp1
NA18984.hp1
NA18993.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19240.hp1
NA20805.hp2
 intron_variant MODIFIER c.1893-48772T>C
c.1893-48772T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36816057
chr21:36816164 C
C
 T
T
 4 a0001c0001t0019g0061
a0001c0001t0031g0057
a0002c0002t0040g0242
others(1): Show 
a0001c0001t0019g0061
a0001c0001t0031g0057
a0002c0002t0040g0242
a0002c0002t0064g0243
 4 HG01109.hp1
HG02559.hp2
HG02717.hp1
others(1): Show 
HG01109.hp1
HG02559.hp2
HG02717.hp1
HG03041.hp1
 intron_variant MODIFIER c.1893-48879G>A
c.1893-48879G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36816164
chr21:36816271 C
C
 T
T
 2 a0001c0001t0019g0061
a0001c0001t0031g0057
a0001c0001t0019g0061
a0001c0001t0031g0057
 2 HG01109.hp1
HG02717.hp1
HG01109.hp1
HG02717.hp1
 intron_variant MODIFIER c.1893-48986G>A
c.1893-48986G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36816271
chr21:36816277 T
T
 G
G
 2 a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0045g0151
a0002c0002t0046g0150
 2 HG03579.hp2
NA18522.hp1
HG03579.hp2
NA18522.hp1
 intron_variant MODIFIER c.1893-48992A>C
c.1893-48992A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36816277
chr21:36816323 G
G
 C
C
 3 a0001c0001t0018g0176
a0002c0002t0043g0152
a0005c0011t0033g0139
a0001c0001t0018g0176
a0002c0002t0043g0152
a0005c0011t0033g0139
 3 HG02886.hp2
HG02976.hp2
HG03471.hp1
HG02886.hp2
HG02976.hp2
HG03471.hp1
 intron_variant MODIFIER c.1893-49038C>G
c.1893-49038C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36816323
chr21:36816395 C
C
 CA
CA
 79 a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
others(76): Show 
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0004g0045
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0019g0247
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0057g0225
a0001c0001t0061g0163
a0001c0001t0075g0049
a0001c0001t0081g0016
a0001c0001t0085g0110
a0001c0001t0090g0005
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0017t0108g0082
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0062g0145
a0003c0005t0092g0134
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 79 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(76): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00741.hp1
HG01070.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01496.hp1
HG01884.hp2
HG01975.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02647.hp1
HG02683.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03453.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03927.hp2
HG04204.hp2
HG06807.hp2
NA18522.hp2
NA18940.hp1
NA18942.hp1
NA18944.hp1
NA18950.hp1
NA18951.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18975.hp1
NA18979.hp1
NA18984.hp1
NA18993.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19240.hp1
NA20805.hp2
 intron_variant MODIFIER c.1893-49111dupT
c.1893-49111dupT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36816395
chr21:36816395 CA
CA
 C
C
 11 a0001c0001t0001g0017
a0001c0001t0001g0043
a0001c0001t0006g0012
others(8): Show 
a0001c0001t0001g0017
a0001c0001t0001g0043
a0001c0001t0006g0012
a0001c0001t0013g0223
a0001c0001t0019g0061
a0001c0001t0022g0187
a0001c0001t0031g0057
a0001c0001t0069g0255
a0001c0001t0093g0133
a0002c0002t0040g0242
a0002c0002t0064g0243
 11 HG01099.hp2
HG01109.hp1
HG01884.hp1
others(8): Show 
HG01099.hp2
HG01109.hp1
HG01884.hp1
HG02300.hp1
HG02559.hp2
HG02717.hp1
HG02809.hp2
HG03041.hp1
HG03098.hp1
NA19068.hp1
NA19074.hp1
 intron_variant MODIFIER c.1893-49111delT
c.1893-49111delT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36816395
chr21:36816506 G
G
 A
A
 1 a0001c0001t0003g0228
a0001c0001t0003g0228
 1 NA18950.hp2
NA18950.hp2
 intron_variant MODIFIER c.1893-49221C>T
c.1893-49221C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36816506
chr21:36816544 G
G
 A
A
 1 a0001c0001t0004g0045
a0001c0001t0004g0045
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.1893-49259C>T
c.1893-49259C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36816544
chr21:36816724 T
T
 C
C
 1 a0001c0001t0109g0119
a0001c0001t0109g0119
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.1893-49439A>G
c.1893-49439A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36816724
chr21:36816778 A
A
 G
G
 2 a0001c0001t0082g0112
a0001c0001t0096g0025
a0001c0001t0082g0112
a0001c0001t0096g0025
 2 HG01346.hp2
HG01981.hp1
HG01346.hp2
HG01981.hp1
 intron_variant MODIFIER c.1893-49493T>C
c.1893-49493T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36816778
chr21:36816851 G
G
 C
C
 10 a0001c0001t0006g0256
a0001c0001t0018g0189
a0001c0001t0022g0187
others(7): Show 
a0001c0001t0006g0256
a0001c0001t0018g0189
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0030g0257
a0001c0001t0069g0255
a0001c0001t0093g0133
a0001c0004t0017g0219
a0001c0004t0017g0220
 10 HG01099.hp2
HG01884.hp1
HG01952.hp2
others(7): Show 
HG01099.hp2
HG01884.hp1
HG01952.hp2
HG02615.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG03098.hp2
HG03130.hp2
HG03225.hp2
 intron_variant MODIFIER c.1893-49566C>G
c.1893-49566C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36816851
chr21:36817024 C
C
 T
T
 1 a0001c0001t0008g0078
a0001c0001t0008g0078
 1 HG03927.hp1
HG03927.hp1
 intron_variant MODIFIER c.1893-49739G>A
c.1893-49739G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36817024
chr21:36817058 G
G
 T
T
 1 a0001c0001t0013g0223
a0001c0001t0013g0223
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.1893-49773C>A
c.1893-49773C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36817058
chr21:36817106 T
T
 C
C
 8 a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
others(5): Show 
a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0063g0208
a0001c0004t0004g0046
a0003c0005t0002g0195
a0003c0005t0027g0218
 8 HG02280.hp1
HG02723.hp2
HG02818.hp1
others(5): Show 
HG02280.hp1
HG02723.hp2
HG02818.hp1
HG02886.hp1
HG02965.hp1
HG03453.hp1
HG03579.hp1
NA20129.hp1
 intron_variant MODIFIER c.1893-49821A>G
c.1893-49821A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36817106
chr21:36817196 A
A
 G
G
 78 a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
others(75): Show 
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0018g0189
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0030g0048
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0037g0254
a0001c0001t0038g0102
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0061g0163
a0001c0001t0075g0049
a0001c0001t0081g0016
a0001c0001t0090g0005
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0004t0042g0209
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0017t0108g0082
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0062g0145
a0003c0005t0092g0134
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 78 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(75): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01496.hp1
HG01952.hp2
HG01975.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02572.hp2
HG02615.hp1
HG02647.hp1
HG02683.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp1
HG02976.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03927.hp2
HG04204.hp2
NA18522.hp2
NA18940.hp1
NA18942.hp1
NA18944.hp1
NA18950.hp1
NA18951.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18975.hp1
NA18984.hp1
NA18993.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19240.hp1
NA20805.hp2
 intron_variant MODIFIER c.1893-49911T>C
c.1893-49911T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36817196
chr21:36817299 G
G
 T
T
 1 a0001c0001t0107g0050
a0001c0001t0107g0050
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.1893-50014C>A
c.1893-50014C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36817299
chr21:36817379 C
C
 T
T
 9 a0001c0001t0006g0256
a0001c0001t0022g0187
a0001c0001t0024g0191
others(6): Show 
a0001c0001t0006g0256
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0030g0257
a0001c0001t0069g0255
a0001c0001t0093g0133
a0001c0004t0017g0219
a0001c0004t0017g0220
 9 HG01099.hp2
HG01884.hp1
HG02615.hp2
others(6): Show 
HG01099.hp2
HG01884.hp1
HG02615.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG03098.hp2
HG03130.hp2
HG03225.hp2
 intron_variant MODIFIER c.1893-50094G>A
c.1893-50094G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36817379
chr21:36817445 T
T
 A
A
 1 a0001c0004t0068g0088
a0001c0004t0068g0088
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.1893-50160A>T
c.1893-50160A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36817445
chr21:36818034 G
G
 A
A
 1 a0001c0001t0004g0045
a0001c0001t0004g0045
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.1893-50749C>T
c.1893-50749C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36818034
chr21:36818208 T
T
 C
C
 6 a0001c0001t0002g0193
a0001c0001t0029g0051
a0001c0001t0029g0136
others(3): Show 
a0001c0001t0002g0193
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0038g0054
a0001c0001t0105g0053
a0001c0001t0107g0050
 6 HG01884.hp2
HG02572.hp1
HG02809.hp1
others(3): Show 
HG01884.hp2
HG02572.hp1
HG02809.hp1
HG02818.hp2
HG02922.hp2
HG03453.hp2
 intron_variant MODIFIER c.1893-50923A>G
c.1893-50923A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36818208
chr21:36818240 C
C
 T
T
 1 a0001c0001t0038g0054
a0001c0001t0038g0054
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.1893-50955G>A
c.1893-50955G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36818240
chr21:36818304 G
G
 A
A
 2 a0001c0001t0051g0168
a0001c0013t0022g0177
a0001c0001t0051g0168
a0001c0013t0022g0177
 2 HG02896.hp2
HG03130.hp1
HG02896.hp2
HG03130.hp1
 intron_variant MODIFIER c.1893-51019C>T
c.1893-51019C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36818304
chr21:36818338 A
A
 G
G
 1 a0001c0001t0103g0100
a0001c0001t0103g0100
 1 HG00438.hp2
HG00438.hp2
 intron_variant MODIFIER c.1893-51053T>C
c.1893-51053T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36818338
chr21:36818379 C
C
 A
A
 1 a0001c0004t0072g0248
a0001c0004t0072g0248
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.1893-51094G>T
c.1893-51094G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36818379
chr21:36818759 C
C
 T
T
 1 a0007c0014t0070g0131
a0007c0014t0070g0131
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.1893-51474G>A
c.1893-51474G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36818759
chr21:36818782 T
T
 G
G
 1 a0001c0001t0053g0186
a0001c0001t0053g0186
 1 HG03927.hp2
HG03927.hp2
 intron_variant MODIFIER c.1893-51497A>C
c.1893-51497A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36818782
chr21:36818890 G
G
 A
A
 4 a0001c0001t0019g0061
a0001c0001t0031g0057
a0002c0002t0040g0242
others(1): Show 
a0001c0001t0019g0061
a0001c0001t0031g0057
a0002c0002t0040g0242
a0002c0002t0064g0243
 4 HG01109.hp1
HG02559.hp2
HG02717.hp1
others(1): Show 
HG01109.hp1
HG02559.hp2
HG02717.hp1
HG03041.hp1
 intron_variant MODIFIER c.1893-51605C>T
c.1893-51605C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36818890
chr21:36818996 T
T
 C
C
 1 a0001c0001t0013g0223
a0001c0001t0013g0223
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.1893-51711A>G
c.1893-51711A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36818996
chr21:36819090 C
C
 T
T
 4 a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0004t0017g0219
others(1): Show 
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0004t0017g0219
a0001c0004t0017g0220
 4 HG02896.hp1
HG02897.hp2
HG03098.hp2
others(1): Show 
HG02896.hp1
HG02897.hp2
HG03098.hp2
HG03225.hp2
 intron_variant MODIFIER c.1893-51805G>A
c.1893-51805G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36819090
chr21:36819367 G
G
 A
A
 3 a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
 3 HG02145.hp1
HG03195.hp1
NA19043.hp2
HG02145.hp1
HG03195.hp1
NA19043.hp2
 intron_variant MODIFIER c.1893-52082C>T
c.1893-52082C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36819367
chr21:36819551 T
T
 C
C
 4 a0001c0001t0019g0061
a0001c0001t0031g0057
a0002c0002t0040g0242
others(1): Show 
a0001c0001t0019g0061
a0001c0001t0031g0057
a0002c0002t0040g0242
a0002c0002t0064g0243
 4 HG01109.hp1
HG02559.hp2
HG02717.hp1
others(1): Show 
HG01109.hp1
HG02559.hp2
HG02717.hp1
HG03041.hp1
 intron_variant MODIFIER c.1893-52266A>G
c.1893-52266A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36819551
chr21:36819574 G
G
 T
T
 91 a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
others(88): Show 
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0037g0254
a0001c0001t0038g0102
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0061g0163
a0001c0001t0069g0255
a0001c0001t0075g0049
a0001c0001t0081g0016
a0001c0001t0090g0005
a0001c0001t0093g0133
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0042g0209
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0017t0108g0082
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0040g0242
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0092g0134
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 91 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(88): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01496.hp1
HG01884.hp1
HG01952.hp2
HG01975.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03927.hp2
HG04204.hp2
NA18522.hp2
NA18940.hp1
NA18942.hp1
NA18944.hp1
NA18950.hp1
NA18951.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18975.hp1
NA18984.hp1
NA18993.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19240.hp1
NA20805.hp2
 intron_variant MODIFIER c.1893-52289C>A
c.1893-52289C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36819574
chr21:36819596 C
C
 A
A
 73 a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
others(70): Show 
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0030g0048
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0038g0102
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0061g0163
a0001c0001t0075g0049
a0001c0001t0081g0016
a0001c0001t0090g0005
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0004t0042g0209
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0017t0108g0082
a0002c0002t0018g0153
a0003c0005t0092g0134
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 73 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(70): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01496.hp1
HG01975.hp1
HG02109.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02300.hp2
HG02486.hp1
HG02572.hp2
HG02615.hp1
HG02647.hp1
HG02683.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp1
HG02976.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03927.hp2
HG04204.hp2
NA18522.hp2
NA18940.hp1
NA18942.hp1
NA18944.hp1
NA18950.hp1
NA18951.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18975.hp1
NA18984.hp1
NA18993.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19240.hp1
NA20805.hp2
 intron_variant MODIFIER c.1893-52311G>T
c.1893-52311G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36819596
chr21:36819686 A
A
 C
C
 136 a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0001g0128
others(133): Show 
a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0098
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0069g0255
a0001c0001t0073g0246
a0001c0001t0075g0049
a0001c0001t0081g0016
a0001c0001t0085g0110
a0001c0001t0090g0005
a0001c0001t0093g0133
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0040g0242
a0002c0002t0043g0152
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0092g0134
a0005c0011t0033g0139
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 136 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(133): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
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.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18944.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp2
NA18959.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp2
NA18975.hp1
NA18979.hp1
NA18984.hp1
NA18993.hp2
NA19004.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19084.hp1
NA19240.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1893-52401T>G
c.1893-52401T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36819686
chr21:36819871 C
C
 T
T
 4 a0001c0001t0037g0254
a0002c0002t0013g0147
a0002c0002t0025g0146
others(1): Show 
a0001c0001t0037g0254
a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0062g0145
 4 HG02109.hp2
HG02280.hp2
HG03139.hp2
others(1): Show 
HG02109.hp2
HG02280.hp2
HG03139.hp2
HG03209.hp2
 intron_variant MODIFIER c.1893-52586G>A
c.1893-52586G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36819871
chr21:36819988 G
G
 A
A
 2 a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0007t0007g0200
a0001c0007t0012g0207
 2 HG01109.hp2
HG02257.hp1
HG01109.hp2
HG02257.hp1
 intron_variant MODIFIER c.1893-52703C>T
c.1893-52703C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36819988
chr21:36820022 C
C
 T
T
 1 a0001c0001t0004g0045
a0001c0001t0004g0045
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.1893-52737G>A
c.1893-52737G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36820022
chr21:36820058 G
G
 A
A
 1 a0001c0001t0018g0189
a0001c0001t0018g0189
 1 HG01952.hp2
HG01952.hp2
 intron_variant MODIFIER c.1893-52773C>T
c.1893-52773C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36820058
chr21:36820060 C
C
 A
A
 2 a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0064
a0001c0001t0008g0065
 2 HG03490.hp1
HG03492.hp1
HG03490.hp1
HG03492.hp1
 intron_variant MODIFIER c.1893-52775G>T
c.1893-52775G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36820060
chr21:36820218 GC
GC
 G
G
 73 a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
others(70): Show 
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0030g0048
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0038g0102
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0061g0163
a0001c0001t0075g0049
a0001c0001t0081g0016
a0001c0001t0090g0005
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0004t0042g0209
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0017t0108g0082
a0002c0002t0018g0153
a0003c0005t0092g0134
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 73 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(70): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01496.hp1
HG01975.hp1
HG02109.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02300.hp2
HG02486.hp1
HG02572.hp2
HG02615.hp1
HG02647.hp1
HG02683.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp1
HG02976.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03927.hp2
HG04204.hp2
NA18522.hp2
NA18940.hp1
NA18942.hp1
NA18944.hp1
NA18950.hp1
NA18951.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18975.hp1
NA18984.hp1
NA18993.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19240.hp1
NA20805.hp2
 intron_variant MODIFIER c.1893-52934delG
c.1893-52934delG
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36820218
chr21:36820274 G
G
 A
A
 4 a0001c0001t0019g0061
a0001c0001t0031g0057
a0002c0002t0040g0242
others(1): Show 
a0001c0001t0019g0061
a0001c0001t0031g0057
a0002c0002t0040g0242
a0002c0002t0064g0243
 4 HG01109.hp1
HG02559.hp2
HG02717.hp1
others(1): Show 
HG01109.hp1
HG02559.hp2
HG02717.hp1
HG03041.hp1
 intron_variant MODIFIER c.1893-52989C>T
c.1893-52989C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36820274
chr21:36820303 G
G
 A
A
 3 a0001c0001t0006g0096
a0001c0001t0006g0127
a0001c0001t0033g0104
a0001c0001t0006g0096
a0001c0001t0006g0127
a0001c0001t0033g0104
 3 HG02895.hp1
HG02897.hp1
HG03540.hp1
HG02895.hp1
HG02897.hp1
HG03540.hp1
 intron_variant MODIFIER c.1893-53018C>T
c.1893-53018C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36820303
chr21:36820312 C
C
 T
T
 1 a0002c0002t0002g0155
a0002c0002t0002g0155
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.1893-53027G>A
c.1893-53027G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36820312
chr21:36820313 G
G
 A
A
 2 a0001c0001t0006g0132
a0007c0014t0070g0131
a0001c0001t0006g0132
a0007c0014t0070g0131
 2 HG00741.hp1
HG02976.hp1
HG00741.hp1
HG02976.hp1
 intron_variant MODIFIER c.1893-53028C>T
c.1893-53028C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36820313
chr21:36820367 A
A
 ACGGC
ACGGC
 6 a0001c0001t0006g0132
a0001c0001t0037g0254
a0002c0002t0013g0147
others(3): Show 
a0001c0001t0006g0132
a0001c0001t0037g0254
a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0062g0145
a0007c0014t0070g0131
 6 HG00741.hp1
HG02109.hp2
HG02280.hp2
others(3): Show 
HG00741.hp1
HG02109.hp2
HG02280.hp2
HG02976.hp1
HG03139.hp2
HG03209.hp2
 intron_variant MODIFIER c.1893-53086_1893-53
others(10): Show 
c.1893-53086_1893-53083dupGCCG
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36820367
chr21:36820378 G
G
 A
A
 5 a0001c0001t0037g0254
a0001c0001t0087g0095
a0002c0002t0013g0147
others(2): Show 
a0001c0001t0037g0254
a0001c0001t0087g0095
a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0062g0145
 5 HG02109.hp2
HG02280.hp2
HG03139.hp2
others(2): Show 
HG02109.hp2
HG02280.hp2
HG03139.hp2
HG03209.hp2
NA18989.hp2
 intron_variant MODIFIER c.1893-53093C>T
c.1893-53093C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36820378
chr21:36820396 C
C
 T
T
 1 a0001c0001t0030g0257
a0001c0001t0030g0257
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.1893-53111G>A
c.1893-53111G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36820396
chr21:36820397 G
G
 A
A
 28 a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0002g0193
others(25): Show 
a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0005g0115
a0001c0001t0008g0078
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0016g0098
a0001c0001t0020g0002
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0038g0054
a0001c0001t0051g0168
a0001c0001t0057g0225
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0018t0004g0060
 28 HG01884.hp2
HG02080.hp1
HG02129.hp1
others(25): Show 
HG01884.hp2
HG02080.hp1
HG02129.hp1
HG02523.hp2
HG02572.hp1
HG02622.hp1
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02922.hp2
HG02965.hp2
HG03130.hp1
HG03453.hp2
HG03710.hp2
HG03927.hp1
HG04115.hp2
HG04228.hp2
NA18939.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp2
NA18952.hp2
NA18959.hp2
NA18971.hp2
NA18979.hp1
NA19004.hp1
NA19009.hp2
NA19084.hp1
 intron_variant MODIFIER c.1893-53112C>T
c.1893-53112C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36820397
chr21:36820462 G
G
 A
A
 8 a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
others(5): Show 
a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0063g0208
a0001c0004t0004g0046
a0003c0005t0002g0195
a0003c0005t0027g0218
 8 HG02280.hp1
HG02723.hp2
HG02818.hp1
others(5): Show 
HG02280.hp1
HG02723.hp2
HG02818.hp1
HG02886.hp1
HG02965.hp1
HG03453.hp1
HG03579.hp1
NA20129.hp1
 intron_variant MODIFIER c.1893-53177C>T
c.1893-53177C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36820462
chr21:36820478 G
G
 A
A
 3 a0001c0001t0022g0187
a0001c0001t0069g0255
a0001c0001t0093g0133
a0001c0001t0022g0187
a0001c0001t0069g0255
a0001c0001t0093g0133
 3 HG01099.hp2
HG01884.hp1
HG02809.hp2
HG01099.hp2
HG01884.hp1
HG02809.hp2
 intron_variant MODIFIER c.1893-53193C>T
c.1893-53193C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36820478
chr21:36820519 A
A
 G
G
 91 a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
others(88): Show 
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0037g0254
a0001c0001t0038g0102
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0061g0163
a0001c0001t0069g0255
a0001c0001t0075g0049
a0001c0001t0081g0016
a0001c0001t0090g0005
a0001c0001t0093g0133
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0042g0209
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0017t0108g0082
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0040g0242
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0092g0134
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 91 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(88): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01496.hp1
HG01884.hp1
HG01952.hp2
HG01975.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03927.hp2
HG04204.hp2
NA18522.hp2
NA18940.hp1
NA18942.hp1
NA18944.hp1
NA18950.hp1
NA18951.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18975.hp1
NA18984.hp1
NA18993.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19240.hp1
NA20805.hp2
 intron_variant MODIFIER c.1893-53234T>C
c.1893-53234T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36820519
chr21:36820625 G
G
 A
A
 2 a0001c0001t0019g0061
a0001c0001t0031g0057
a0001c0001t0019g0061
a0001c0001t0031g0057
 2 HG01109.hp1
HG02717.hp1
HG01109.hp1
HG02717.hp1
 intron_variant MODIFIER c.1893-53340C>T
c.1893-53340C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36820625
chr21:36820647 C
C
 T
T
 1 a0001c0004t0072g0248
a0001c0004t0072g0248
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.1893-53362G>A
c.1893-53362G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36820647
chr21:36820648 G
G
 A
A
 14 a0001c0001t0006g0256
a0001c0001t0018g0189
a0001c0001t0022g0187
others(11): Show 
a0001c0001t0006g0256
a0001c0001t0018g0189
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0030g0257
a0001c0001t0037g0254
a0001c0001t0069g0255
a0001c0001t0093g0133
a0001c0004t0017g0219
a0001c0004t0017g0220
a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0062g0145
 14 HG01099.hp2
HG01884.hp1
HG01952.hp2
others(11): Show 
HG01099.hp2
HG01884.hp1
HG01952.hp2
HG02109.hp2
HG02280.hp2
HG02615.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03209.hp2
HG03225.hp2
 intron_variant MODIFIER c.1893-53363C>T
c.1893-53363C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36820648
chr21:36820676 C
C
 T
T
 1 a0001c0001t0107g0050
a0001c0001t0107g0050
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.1893-53391G>A
c.1893-53391G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36820676
chr21:36820678 C
C
 T
T
 73 a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
others(70): Show 
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0030g0048
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0038g0102
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0061g0163
a0001c0001t0075g0049
a0001c0001t0081g0016
a0001c0001t0090g0005
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0004t0042g0209
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0017t0108g0082
a0002c0002t0018g0153
a0003c0005t0092g0134
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 73 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(70): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01496.hp1
HG01975.hp1
HG02109.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02300.hp2
HG02486.hp1
HG02572.hp2
HG02615.hp1
HG02647.hp1
HG02683.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp1
HG02976.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03927.hp2
HG04204.hp2
NA18522.hp2
NA18940.hp1
NA18942.hp1
NA18944.hp1
NA18950.hp1
NA18951.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18975.hp1
NA18984.hp1
NA18993.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19240.hp1
NA20805.hp2
 intron_variant MODIFIER c.1893-53393G>A
c.1893-53393G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36820678
chr21:36820771 G
G
 C
C
 136 a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0001g0128
others(133): Show 
a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0098
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0069g0255
a0001c0001t0073g0246
a0001c0001t0075g0049
a0001c0001t0081g0016
a0001c0001t0085g0110
a0001c0001t0090g0005
a0001c0001t0093g0133
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0040g0242
a0002c0002t0043g0152
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0092g0134
a0005c0011t0033g0139
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 136 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(133): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
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.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18944.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp2
NA18959.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp2
NA18975.hp1
NA18979.hp1
NA18984.hp1
NA18993.hp2
NA19004.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19084.hp1
NA19240.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1893-53486C>G
c.1893-53486C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36820771
chr21:36820849 C
C
 T
T
 4 a0001c0001t0019g0061
a0001c0001t0031g0057
a0002c0002t0040g0242
others(1): Show 
a0001c0001t0019g0061
a0001c0001t0031g0057
a0002c0002t0040g0242
a0002c0002t0064g0243
 4 HG01109.hp1
HG02559.hp2
HG02717.hp1
others(1): Show 
HG01109.hp1
HG02559.hp2
HG02717.hp1
HG03041.hp1
 intron_variant MODIFIER c.1893-53564G>A
c.1893-53564G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36820849
chr21:36820900 C
C
 A
A
 1 a0001c0001t0035g0097
a0001c0001t0035g0097
 1 NA19074.hp2
NA19074.hp2
 intron_variant MODIFIER c.1893-53615G>T
c.1893-53615G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36820900
chr21:36820907 G
G
 T
T
 4 a0001c0001t0001g0006
a0001c0001t0004g0007
a0001c0001t0083g0013
others(1): Show 
a0001c0001t0001g0006
a0001c0001t0004g0007
a0001c0001t0083g0013
a0001c0001t0101g0008
 4 HG00738.hp1
HG01081.hp2
HG01243.hp2
others(1): Show 
HG00738.hp1
HG01081.hp2
HG01243.hp2
HG01516.hp1
 intron_variant MODIFIER c.1893-53622C>A
c.1893-53622C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36820907
chr21:36821254 C
C
 G
G
 1 a0001c0001t0002g0193
a0001c0001t0002g0193
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.1893-53969G>C
c.1893-53969G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36821254
chr21:36821418 T
T
 C
C
 1 a0001c0001t0004g0058
a0001c0001t0004g0058
 1 HG01192.hp2
HG01192.hp2
 intron_variant MODIFIER c.1893-54133A>G
c.1893-54133A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36821418
chr21:36821572 C
C
 T
T
 2 a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0026g0250
a0001c0001t0026g0251
 2 HG01257.hp2
HG01258.hp1
HG01257.hp2
HG01258.hp1
 intron_variant MODIFIER c.1893-54287G>A
c.1893-54287G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36821572
chr21:36821604 G
G
 A
A
 136 a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0001g0128
others(133): Show 
a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0098
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0069g0255
a0001c0001t0073g0246
a0001c0001t0075g0049
a0001c0001t0081g0016
a0001c0001t0085g0110
a0001c0001t0090g0005
a0001c0001t0093g0133
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0040g0242
a0002c0002t0043g0152
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0092g0134
a0005c0011t0033g0139
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 136 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(133): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
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.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18944.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp2
NA18959.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp2
NA18975.hp1
NA18979.hp1
NA18984.hp1
NA18993.hp2
NA19004.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19084.hp1
NA19240.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1893-54319C>T
c.1893-54319C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36821604
chr21:36821647 G
G
 A
A
 4 a0001c0001t0004g0015
a0001c0001t0030g0048
a0001c0001t0038g0102
others(1): Show 
a0001c0001t0004g0015
a0001c0001t0030g0048
a0001c0001t0038g0102
a0001c0001t0075g0049
 4 HG00741.hp2
HG01243.hp1
HG02109.hp1
others(1): Show 
HG00741.hp2
HG01243.hp1
HG02109.hp1
HG02572.hp2
 intron_variant MODIFIER c.1893-54362C>T
c.1893-54362C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36821647
chr21:36821780 C
C
 G
G
 8 a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
others(5): Show 
a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0063g0208
a0001c0004t0004g0046
a0003c0005t0002g0195
a0003c0005t0027g0218
 8 HG02280.hp1
HG02723.hp2
HG02818.hp1
others(5): Show 
HG02280.hp1
HG02723.hp2
HG02818.hp1
HG02886.hp1
HG02965.hp1
HG03453.hp1
HG03579.hp1
NA20129.hp1
 intron_variant MODIFIER c.1893-54495G>C
c.1893-54495G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36821780
chr21:36821795 T
T
 C
C
 3 a0001c0001t0002g0238
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0002g0238
a0001c0001t0009g0235
a0001c0001t0009g0236
 3 HG01255.hp1
HG01361.hp2
NA20129.hp2
HG01255.hp1
HG01361.hp2
NA20129.hp2
 intron_variant MODIFIER c.1893-54510A>G
c.1893-54510A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36821795
chr21:36821825 G
G
 A
A
 2 a0001c0001t0004g0009
a0001c0008t0008g0001
a0001c0001t0004g0009
a0001c0008t0008g0001
 2 HG01256.hp1
HG04228.hp1
HG01256.hp1
HG04228.hp1
 intron_variant MODIFIER c.1893-54540C>T
c.1893-54540C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36821825
chr21:36821860 G
G
 A
A
 10 a0001c0001t0006g0256
a0001c0001t0018g0189
a0001c0001t0022g0187
others(7): Show 
a0001c0001t0006g0256
a0001c0001t0018g0189
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0030g0257
a0001c0001t0069g0255
a0001c0001t0093g0133
a0001c0004t0017g0219
a0001c0004t0017g0220
 10 HG01099.hp2
HG01884.hp1
HG01952.hp2
others(7): Show 
HG01099.hp2
HG01884.hp1
HG01952.hp2
HG02615.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG03098.hp2
HG03130.hp2
HG03225.hp2
 intron_variant MODIFIER c.1893-54575C>T
c.1893-54575C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36821860
chr21:36821999 G
G
 A
A
 2 a0001c0001t0015g0141
a0001c0004t0004g0046
a0001c0001t0015g0141
a0001c0004t0004g0046
 2 HG02818.hp1
HG03453.hp1
HG02818.hp1
HG03453.hp1
 intron_variant MODIFIER c.1893-54714C>T
c.1893-54714C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36821999
chr21:36822238 G
G
 A
A
 2 a0002c0002t0040g0242
a0002c0002t0064g0243
a0002c0002t0040g0242
a0002c0002t0064g0243
 2 HG02559.hp2
HG03041.hp1
HG02559.hp2
HG03041.hp1
 intron_variant MODIFIER c.1893-54953C>T
c.1893-54953C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36822238
chr21:36822311 T
T
 C
C
 3 a0001c0001t0018g0176
a0002c0002t0043g0152
a0005c0011t0033g0139
a0001c0001t0018g0176
a0002c0002t0043g0152
a0005c0011t0033g0139
 3 HG02886.hp2
HG02976.hp2
HG03471.hp1
HG02886.hp2
HG02976.hp2
HG03471.hp1
 intron_variant MODIFIER c.1893-55026A>G
c.1893-55026A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36822311
chr21:36822398 G
G
 A
A
 62 a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
others(59): Show 
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0004g0015
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0019g0247
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0030g0048
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0038g0102
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0061g0163
a0001c0001t0075g0049
a0001c0001t0081g0016
a0001c0001t0090g0005
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0002c0002t0018g0153
a0003c0005t0092g0134
a0008c0012t0035g0069
a0009c0009t0012g0196
 62 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(59): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01496.hp1
HG01975.hp1
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02300.hp2
HG02572.hp2
HG02615.hp1
HG02647.hp1
HG02683.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp1
HG03209.hp1
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03927.hp2
HG04204.hp2
NA18522.hp2
NA18940.hp1
NA18942.hp1
NA18944.hp1
NA18950.hp1
NA18951.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18975.hp1
NA18984.hp1
NA18993.hp2
NA19030.hp2
NA19043.hp1
NA19068.hp2
NA19240.hp1
NA20805.hp2
 intron_variant MODIFIER c.1893-55113C>T
c.1893-55113C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36822398
chr21:36822412 G
G
 A
A
 10 a0001c0001t0006g0256
a0001c0001t0018g0189
a0001c0001t0022g0187
others(7): Show 
a0001c0001t0006g0256
a0001c0001t0018g0189
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0030g0257
a0001c0001t0069g0255
a0001c0001t0093g0133
a0001c0004t0017g0219
a0001c0004t0017g0220
 10 HG01099.hp2
HG01884.hp1
HG01952.hp2
others(7): Show 
HG01099.hp2
HG01884.hp1
HG01952.hp2
HG02615.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG03098.hp2
HG03130.hp2
HG03225.hp2
 intron_variant MODIFIER c.1893-55127C>T
c.1893-55127C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36822412
chr21:36822566 T
T
 C
C
 1 a0007c0014t0070g0131
a0007c0014t0070g0131
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.1893-55281A>G
c.1893-55281A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36822566
chr21:36822578 C
C
 T
T
 1 a0001c0001t0109g0119
a0001c0001t0109g0119
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.1893-55293G>A
c.1893-55293G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36822578
chr21:36822714 G
G
 C
C
 73 a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
others(70): Show 
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0030g0048
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0038g0102
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0061g0163
a0001c0001t0075g0049
a0001c0001t0081g0016
a0001c0001t0090g0005
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0004t0042g0209
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0017t0108g0082
a0002c0002t0018g0153
a0003c0005t0092g0134
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 73 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(70): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01496.hp1
HG01975.hp1
HG02109.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02300.hp2
HG02486.hp1
HG02572.hp2
HG02615.hp1
HG02647.hp1
HG02683.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp1
HG02976.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03927.hp2
HG04204.hp2
NA18522.hp2
NA18940.hp1
NA18942.hp1
NA18944.hp1
NA18950.hp1
NA18951.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18975.hp1
NA18984.hp1
NA18993.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19240.hp1
NA20805.hp2
 intron_variant MODIFIER c.1893-55429C>G
c.1893-55429C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36822714
chr21:36822967 C
C
 T
T
 2 a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0232
a0001c0001t0002g0237
 2 NA19009.hp2
NA19084.hp1
NA19009.hp2
NA19084.hp1
 intron_variant MODIFIER c.1893-55682G>A
c.1893-55682G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36822967
chr21:36823027 C
C
 T
T
 1 a0001c0004t0072g0248
a0001c0004t0072g0248
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.1893-55742G>A
c.1893-55742G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36823027
chr21:36823099 T
T
 C
C
 1 a0001c0018t0004g0060
a0001c0018t0004g0060
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.1893-55814A>G
c.1893-55814A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36823099
chr21:36823112 C
C
 T
T
 1 a0001c0001t0004g0045
a0001c0001t0004g0045
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.1893-55827G>A
c.1893-55827G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36823112
chr21:36823475 C
C
 T
T
 2 a0001c0001t0019g0061
a0001c0001t0031g0057
a0001c0001t0019g0061
a0001c0001t0031g0057
 2 HG01109.hp1
HG02717.hp1
HG01109.hp1
HG02717.hp1
 intron_variant MODIFIER c.1893-56190G>A
c.1893-56190G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36823475
chr21:36823608 A
A
 AG
AG
 6 a0001c0001t0001g0036
a0001c0001t0001g0120
a0001c0001t0006g0085
others(3): Show 
a0001c0001t0001g0036
a0001c0001t0001g0120
a0001c0001t0006g0085
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0020g0034
 6 HG01978.hp2
HG02040.hp1
HG02083.hp1
others(3): Show 
HG01978.hp2
HG02040.hp1
HG02083.hp1
HG02083.hp2
HG03927.hp1
NA18612.hp1
 intron_variant MODIFIER c.1893-56324dupC
c.1893-56324dupC
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36823608
chr21:36823608 A
A
 AGG
AGG
 16 a0001c0001t0001g0011
a0001c0001t0001g0077
a0001c0001t0001g0122
others(13): Show 
a0001c0001t0001g0011
a0001c0001t0001g0077
a0001c0001t0001g0122
a0001c0001t0002g0165
a0001c0001t0003g0166
a0001c0001t0004g0014
a0001c0001t0005g0113
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0035g0097
a0001c0001t0039g0126
a0001c0001t0063g0208
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0094g0031
a0006c0016t0001g0116
 16 HG01081.hp1
HG01255.hp1
HG01346.hp1
others(13): Show 
HG01081.hp1
HG01255.hp1
HG01346.hp1
HG01361.hp2
HG01978.hp1
HG02280.hp1
HG02523.hp1
NA18612.hp2
NA18941.hp1
NA18941.hp2
NA18959.hp1
NA18970.hp2
NA18989.hp1
NA18989.hp2
NA19004.hp2
NA19074.hp2
 intron_variant MODIFIER c.1893-56325_1893-56
others(8): Show 
c.1893-56325_1893-56324dupCC
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36823608
chr21:36823610 G
G
 GGGGT
GGGGT
 6 a0001c0001t0002g0238
a0001c0001t0018g0176
a0001c0001t0085g0110
others(3): Show 
a0001c0001t0002g0238
a0001c0001t0018g0176
a0001c0001t0085g0110
a0001c0001t0089g0099
a0002c0002t0043g0152
a0005c0011t0033g0139
 6 HG01071.hp1
HG02886.hp2
HG02976.hp2
others(3): Show 
HG01071.hp1
HG02886.hp2
HG02976.hp2
HG03471.hp1
HG06807.hp2
NA20129.hp2
 intron_variant MODIFIER c.1893-56326_1893-56
others(10): Show 
c.1893-56326_1893-56325insACCC
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36823610
chr21:36823610 G
G
 GGGGTGT
GGGGTGT
 7 a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
others(4): Show 
a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0004t0004g0046
a0003c0005t0002g0195
a0003c0005t0027g0218
 7 HG02723.hp2
HG02818.hp1
HG02886.hp1
others(4): Show 
HG02723.hp2
HG02818.hp1
HG02886.hp1
HG02965.hp1
HG03453.hp1
HG03579.hp1
NA20129.hp1
 intron_variant MODIFIER c.1893-56326_1893-56
others(12): Show 
c.1893-56326_1893-56325insACACCC
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36823610
chr21:36823610 G
G
 GGGGTGTG
others(3): Show 
GGGGTGTGTGT
 1 a0001c0004t0067g0067
a0001c0004t0067g0067
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.1893-56326_1893-56
others(16): Show 
c.1893-56326_1893-56325insACACACACCC
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36823610
chr21:36823610 G
G
 GGGGTGTG
others(5): Show 
GGGGTGTGTGTGT
 1 a0001c0001t0003g0173
a0001c0001t0003g0173
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.1893-56326_1893-56
others(18): Show 
c.1893-56326_1893-56325insACACACACACCC
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36823610
chr21:36823610 G
G
 GGGGTGTG
others(7): Show 
GGGGTGTGTGTGTGT
 2 a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0001t0031g0245
a0001c0001t0073g0246
 2 HG02559.hp1
HG03516.hp1
HG02559.hp1
HG03516.hp1
 intron_variant MODIFIER c.1893-56326_1893-56
others(20): Show 
c.1893-56326_1893-56325insACACACACACACCC
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36823610
chr21:36823610 G
G
 GGT
GGT
 9 a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0004g0045
others(6): Show 
a0001c0001t0001g0006
a0001c0001t0001g0080
a0001c0001t0004g0045
a0001c0001t0065g0252
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0106g0253
a0002c0002t0002g0155
 9 HG00438.hp2
HG00738.hp1
HG01516.hp1
others(6): Show 
HG00438.hp2
HG00738.hp1
HG01516.hp1
HG02135.hp1
HG02486.hp1
HG02602.hp1
HG02622.hp2
HG03041.hp2
NA18948.hp2
 intron_variant MODIFIER c.1893-56327_1893-56
others(8): Show 
c.1893-56327_1893-56326dupAC
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36823610
chr21:36823610 G
G
 GGTGT
GGTGT
 4 a0001c0001t0004g0138
a0001c0001t0006g0029
a0001c0001t0006g0132
others(1): Show 
a0001c0001t0004g0138
a0001c0001t0006g0029
a0001c0001t0006g0132
a0001c0001t0008g0018
 4 HG01175.hp1
HG02976.hp1
HG03239.hp1
others(1): Show 
HG01175.hp1
HG02976.hp1
HG03239.hp1
HG03239.hp2
 intron_variant MODIFIER c.1893-56329_1893-56
others(10): Show 
c.1893-56329_1893-56326dupACAC
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36823610
chr21:36823610 G
G
 GGTGTGT
GGTGTGT
 4 a0001c0001t0019g0101
a0001c0003t0007g0210
a0001c0017t0108g0082
others(1): Show 
a0001c0001t0019g0101
a0001c0003t0007g0210
a0001c0017t0108g0082
a0002c0002t0040g0242
 4 HG02559.hp2
HG03195.hp1
NA19030.hp1
others(1): Show 
HG02559.hp2
HG03195.hp1
NA19030.hp1
NA20805.hp1
 intron_variant MODIFIER c.1893-56331_1893-56
others(12): Show 
c.1893-56331_1893-56326dupACACAC
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36823610
chr21:36823610 G
G
 GGTGTGTG
others(1): Show 
GGTGTGTGT
 4 a0001c0007t0007g0200
a0001c0007t0012g0207
a0002c0002t0064g0243
others(1): Show 
a0001c0007t0007g0200
a0001c0007t0012g0207
a0002c0002t0064g0243
a0007c0014t0070g0131
 4 HG00741.hp1
HG01109.hp2
HG02257.hp1
others(1): Show 
HG00741.hp1
HG01109.hp2
HG02257.hp1
HG03041.hp1
 intron_variant MODIFIER c.1893-56333_1893-56
others(14): Show 
c.1893-56333_1893-56326dupACACACAC
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36823610
chr21:36823610 G
G
 GGTGTGTG
others(3): Show 
GGTGTGTGTGT
 7 a0001c0001t0007g0162
a0001c0001t0061g0163
a0001c0001t0081g0016
others(4): Show 
a0001c0001t0007g0162
a0001c0001t0061g0163
a0001c0001t0081g0016
a0001c0004t0042g0209
a0001c0006t0023g0212
a0001c0006t0023g0222
a0003c0005t0092g0134
 7 HG00323.hp2
HG00735.hp1
HG01175.hp2
others(4): Show 
HG00323.hp2
HG00735.hp1
HG01175.hp2
HG02145.hp1
HG03704.hp1
HG03704.hp2
NA19043.hp2
 intron_variant MODIFIER c.1893-56335_1893-56
others(16): Show 
c.1893-56335_1893-56326dupACACACACAC
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36823610
chr21:36823610 G
G
 GGTGTGTG
others(5): Show 
GGTGTGTGTGTGT
 10 a0001c0001t0002g0171
a0001c0001t0007g0170
a0001c0001t0010g0164
others(7): Show 
a0001c0001t0002g0171
a0001c0001t0007g0170
a0001c0001t0010g0164
a0001c0001t0010g0249
a0001c0001t0018g0189
a0001c0001t0024g0211
a0001c0001t0030g0257
a0001c0001t0069g0255
a0001c0003t0007g0221
a0001c0003t0012g0205
 10 HG01106.hp1
HG01168.hp1
HG01496.hp1
others(7): Show 
HG01106.hp1
HG01168.hp1
HG01496.hp1
HG01952.hp2
HG02615.hp2
HG02809.hp2
HG02922.hp1
HG03225.hp2
HG03831.hp1
NA18993.hp2
 intron_variant MODIFIER c.1893-56337_1893-56
others(18): Show 
c.1893-56337_1893-56326dupACACACACACAC
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36823610
chr21:36823610 G
G
 GGTGTGTG
others(7): Show 
GGTGTGTGTGTGTGT
 4 a0001c0001t0009g0178
a0001c0001t0010g0169
a0001c0001t0022g0187
others(1): Show 
a0001c0001t0009g0178
a0001c0001t0010g0169
a0001c0001t0022g0187
a0001c0003t0007g0215
 4 HG00280.hp2
HG00323.hp1
HG01884.hp1
others(1): Show 
HG00280.hp2
HG00323.hp1
HG01884.hp1
NA18944.hp1
 intron_variant MODIFIER c.1893-56339_1893-56
others(20): Show 
c.1893-56339_1893-56326dupACACACACACACAC
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36823610
chr21:36823610 G
G
 GGTGTGTG
others(9): Show 
GGTGTGTGTGTGTGTGT
 12 a0001c0001t0002g0174
a0001c0001t0002g0183
a0001c0001t0006g0256
others(9): Show 
a0001c0001t0002g0174
a0001c0001t0002g0183
a0001c0001t0006g0256
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0032g0081
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0098g0035
a0001c0003t0003g0199
a0002c0002t0018g0153
a0009c0009t0012g0196
 12 HG01256.hp2
HG01258.hp2
HG02257.hp2
others(9): Show 
HG01256.hp2
HG01258.hp2
HG02257.hp2
HG02300.hp2
HG02647.hp1
HG03130.hp2
HG03209.hp1
HG03492.hp2
HG03669.hp1
NA18522.hp2
NA18975.hp1
NA20805.hp2
 intron_variant MODIFIER c.1893-56341_1893-56
others(22): Show 
c.1893-56341_1893-56326dupACACACACACACACAC
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36823610
chr21:36823610 G
G
 GGTGTGTG
others(11): Show 
GGTGTGTGTGTGTGTGTGT
 23 a0001c0001t0001g0128
a0001c0001t0002g0172
a0001c0001t0002g0179
others(20): Show 
a0001c0001t0001g0128
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0005g0052
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0019g0247
a0001c0001t0024g0191
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0090g0005
a0001c0001t0093g0133
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0010t0011g0020
 23 HG01070.hp2
HG01071.hp2
HG01099.hp2
others(20): Show 
HG01070.hp2
HG01071.hp2
HG01099.hp2
HG01168.hp2
HG01169.hp1
HG01257.hp2
HG01258.hp1
HG01975.hp1
HG02615.hp1
HG02895.hp1
HG02897.hp1
HG03098.hp2
HG03195.hp2
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG04204.hp2
NA18951.hp2
NA18968.hp2
NA18970.hp1
NA19043.hp1
NA19068.hp2
NA19240.hp1
 intron_variant MODIFIER c.1893-56343_1893-56
others(24): Show 
c.1893-56343_1893-56326dupACACACACACACACACAC
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36823610
chr21:36823610 G
G
 GGTGTGTG
others(13): Show 
GGTGTGTGTGTGTGTGTGTGT
 8 a0001c0001t0002g0158
a0001c0001t0004g0015
a0001c0001t0010g0229
others(5): Show 
a0001c0001t0002g0158
a0001c0001t0004g0015
a0001c0001t0010g0229
a0001c0001t0014g0159
a0001c0001t0030g0048
a0001c0001t0032g0111
a0001c0004t0017g0219
a0001c0004t0017g0220
 8 HG00741.hp2
HG01192.hp1
HG01243.hp1
others(5): Show 
HG00741.hp2
HG01192.hp1
HG01243.hp1
HG02145.hp2
HG02896.hp1
HG02897.hp2
HG03490.hp2
NA18967.hp1
 intron_variant MODIFIER c.1893-56345_1893-56
others(26): Show 
c.1893-56345_1893-56326dupACACACACACACACACACAC
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36823610
chr21:36823610 G
G
 GGTGTGTG
others(15): Show 
GGTGTGTGTGTGTGTGTGTGTGT
 3 a0001c0001t0033g0104
a0001c0001t0038g0102
a0001c0001t0075g0049
a0001c0001t0033g0104
a0001c0001t0038g0102
a0001c0001t0075g0049
 3 HG02109.hp1
HG02572.hp2
HG03540.hp1
HG02109.hp1
HG02572.hp2
HG03540.hp1
 intron_variant MODIFIER c.1893-56347_1893-56
others(28): Show 
c.1893-56347_1893-56326dupACACACACACACACACACACAC
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36823610
chr21:36823610 G
G
 GGTGTGTG
others(17): Show 
GGTGTGTGTGTGTGTGTGTGTGTGT
 2 a0001c0001t0002g0160
a0001c0001t0005g0056
a0001c0001t0002g0160
a0001c0001t0005g0056
 2 HG03669.hp2
NA18942.hp1
HG03669.hp2
NA18942.hp1
 intron_variant MODIFIER c.1893-56349_1893-56
others(30): Show 
c.1893-56349_1893-56326dupACACACACACACACACACACACAC
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36823610
chr21:36823610 G
G
 GGTGTGTG
others(19): Show 
GGTGTGTGTGTGTGTGTGTGTGTGTGT
 1 a0001c0001t0005g0021
a0001c0001t0005g0021
 1 NA18950.hp1
NA18950.hp1
 intron_variant MODIFIER c.1893-56351_1893-56
others(32): Show 
c.1893-56351_1893-56326dupACACACACACACACACACACACAC
AC
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36823610
chr21:36823610 G
G
 GGTGTGTG
others(21): Show 
GGTGTGTGTGTGTGTGTGTGTGTGTGTGT
 1 a0001c0001t0003g0226
a0001c0001t0003g0226
 1 NA18984.hp1
NA18984.hp1
 intron_variant MODIFIER c.1893-56353_1893-56
others(34): Show 
c.1893-56353_1893-56326dupACACACACACACACACACACACAC
ACAC
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36823610
chr21:36823610 G
G
 GGTGTGTG
others(23): Show 
GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
 1 a0008c0012t0035g0069
a0008c0012t0035g0069
 1 NA18940.hp1
NA18940.hp1
 intron_variant MODIFIER c.1893-56355_1893-56
others(36): Show 
c.1893-56355_1893-56326dupACACACACACACACACACACACAC
ACACAC
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36823610
chr21:36823610 G
G
 GGTTGTGT
others(6): Show 
GGTTGTGTGTGTGT
 1 a0001c0001t0028g0167
a0001c0001t0028g0167
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.1893-56326_1893-56
others(19): Show 
c.1893-56326_1893-56325insACACACACACAAC
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36823610
chr21:36823610 G
G
 GT
GT
 3 a0001c0001t0001g0068
a0001c0001t0001g0079
a0002c0002t0027g0157
a0001c0001t0001g0068
a0001c0001t0001g0079
a0002c0002t0027g0157
 3 HG00438.hp1
HG00639.hp2
HG02135.hp2
HG00438.hp1
HG00639.hp2
HG02135.hp2
 intron_variant MODIFIER c.1893-56326_1893-56
others(7): Show 
c.1893-56326_1893-56325insA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36823610
chr21:36823610 G
G
 GTGTGTGT
others(4): Show 
GTGTGTGTGTGT
 2 a0001c0001t0053g0186
a0002c0002t0025g0149
a0001c0001t0053g0186
a0002c0002t0025g0149
 2 HG03927.hp2
HG06807.hp1
HG03927.hp2
HG06807.hp1
 intron_variant MODIFIER c.1893-56326_1893-56
others(17): Show 
c.1893-56326_1893-56325insACACACACACA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36823610
chr21:36823610 G
G
 GTGTGTGT
others(10): Show 
GTGTGTGTGTGTGTGTGT
 1 a0001c0001t0099g0124
a0001c0001t0099g0124
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.1893-56326_1893-56
others(23): Show 
c.1893-56326_1893-56325insACACACACACACACACA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36823610
chr21:36823610 GGT
GGT
 G
G
 17 a0001c0001t0001g0010
a0001c0001t0002g0232
a0001c0001t0002g0237
others(14): Show 
a0001c0001t0001g0010
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0228
a0001c0001t0003g0244
a0001c0001t0005g0115
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0016g0098
a0001c0001t0020g0002
a0001c0001t0057g0225
a0001c0001t0066g0059
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0018t0004g0060
a0002c0002t0013g0147
 17 HG01106.hp2
HG02080.hp1
HG02129.hp1
others(14): Show 
HG01106.hp2
HG02080.hp1
HG02129.hp1
HG02523.hp2
HG02622.hp1
HG03139.hp2
HG04115.hp2
NA18939.hp1
NA18947.hp2
NA18950.hp2
NA18952.hp2
NA18959.hp2
NA18971.hp2
NA18979.hp1
NA19004.hp1
NA19009.hp2
NA19084.hp1
 intron_variant MODIFIER c.1893-56327_1893-56
others(8): Show 
c.1893-56327_1893-56326delAC
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36823610
chr21:36823610 GGTGT
GGTGT
 G
G
 3 a0001c0001t0037g0254
a0002c0002t0025g0146
a0002c0002t0062g0145
a0001c0001t0037g0254
a0002c0002t0025g0146
a0002c0002t0062g0145
 3 HG02109.hp2
HG02280.hp2
HG03209.hp2
HG02109.hp2
HG02280.hp2
HG03209.hp2
 intron_variant MODIFIER c.1893-56329_1893-56
others(10): Show 
c.1893-56329_1893-56326delACAC
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36823610
chr21:36823612 T
T
 G
G
 12 a0001c0001t0001g0027
a0001c0001t0002g0193
a0001c0001t0003g0230
others(9): Show 
a0001c0001t0001g0027
a0001c0001t0002g0193
a0001c0001t0003g0230
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0038g0054
a0001c0001t0051g0168
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0111g0137
a0001c0013t0022g0177
 12 HG01884.hp2
HG02572.hp1
HG02717.hp2
others(9): Show 
HG01884.hp2
HG02572.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02922.hp2
HG02965.hp2
HG03130.hp1
HG03453.hp2
HG04228.hp2
NA18948.hp1
 intron_variant MODIFIER c.1893-56327A>C
c.1893-56327A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36823612
chr21:36823614 T
T
 G
G
 16 a0001c0001t0001g0010
a0001c0001t0002g0232
a0001c0001t0002g0237
others(13): Show 
a0001c0001t0001g0010
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0228
a0001c0001t0003g0244
a0001c0001t0005g0115
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0016g0098
a0001c0001t0020g0002
a0001c0001t0057g0225
a0001c0001t0066g0059
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0018t0004g0060
 16 HG01106.hp2
HG02080.hp1
HG02129.hp1
others(13): Show 
HG01106.hp2
HG02080.hp1
HG02129.hp1
HG02523.hp2
HG02622.hp1
HG04115.hp2
NA18939.hp1
NA18947.hp2
NA18950.hp2
NA18952.hp2
NA18959.hp2
NA18971.hp2
NA18979.hp1
NA19004.hp1
NA19009.hp2
NA19084.hp1
 intron_variant MODIFIER c.1893-56329A>C
c.1893-56329A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36823614
chr21:36823618 T
T
 G
G
 1 a0001c0015t0052g0239
a0001c0015t0052g0239
 1 HG03710.hp2
HG03710.hp2
 intron_variant MODIFIER c.1893-56333A>C
c.1893-56333A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36823618
chr21:36823645 G
G
 GTGTGTGT
others(3): Show 
GTGTGTGTGTA
 1 a0001c0001t0019g0061
a0001c0001t0019g0061
 1 HG01109.hp1
HG01109.hp1
 intron_variant MODIFIER c.1893-56361_1893-56
others(16): Show 
c.1893-56361_1893-56360insTACACACACA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36823645
chr21:36823645 G
G
 GTGTGTGT
others(5): Show 
GTGTGTGTGTGTA
 1 a0001c0001t0031g0057
a0001c0001t0031g0057
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.1893-56361_1893-56
others(18): Show 
c.1893-56361_1893-56360insTACACACACACA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36823645
chr21:36823805 A
A
 G
G
 13 a0001c0001t0002g0174
a0001c0001t0003g0226
a0001c0001t0005g0021
others(10): Show 
a0001c0001t0002g0174
a0001c0001t0003g0226
a0001c0001t0005g0021
a0001c0001t0005g0056
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0007t0007g0200
a0001c0007t0012g0207
a0008c0012t0035g0069
 13 HG00323.hp1
HG01106.hp1
HG01109.hp2
others(10): Show 
HG00323.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01256.hp2
HG01258.hp2
HG02257.hp1
HG03669.hp1
NA18940.hp1
NA18942.hp1
NA18950.hp1
NA18984.hp1
NA20805.hp2
 intron_variant MODIFIER c.1893-56520T>C
c.1893-56520T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36823805
chr21:36823807 G
G
 A
A
 136 a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0001g0128
others(133): Show 
a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0098
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0069g0255
a0001c0001t0073g0246
a0001c0001t0075g0049
a0001c0001t0081g0016
a0001c0001t0085g0110
a0001c0001t0090g0005
a0001c0001t0093g0133
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0040g0242
a0002c0002t0043g0152
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0092g0134
a0005c0011t0033g0139
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 136 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(133): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
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.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18944.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp2
NA18959.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp2
NA18975.hp1
NA18979.hp1
NA18984.hp1
NA18993.hp2
NA19004.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19084.hp1
NA19240.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1893-56522C>T
c.1893-56522C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36823807
chr21:36823886 C
C
 T
T
 10 a0001c0001t0006g0256
a0001c0001t0018g0189
a0001c0001t0022g0187
others(7): Show 
a0001c0001t0006g0256
a0001c0001t0018g0189
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0030g0257
a0001c0001t0069g0255
a0001c0001t0093g0133
a0001c0004t0017g0219
a0001c0004t0017g0220
 10 HG01099.hp2
HG01884.hp1
HG01952.hp2
others(7): Show 
HG01099.hp2
HG01884.hp1
HG01952.hp2
HG02615.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG03098.hp2
HG03130.hp2
HG03225.hp2
 intron_variant MODIFIER c.1893-56601G>A
c.1893-56601G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36823886
chr21:36824168 T
T
 G
G
 1 a0002c0002t0064g0243
a0002c0002t0064g0243
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.1893-56883A>C
c.1893-56883A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36824168
chr21:36824179 T
T
 G
G
 1 a0001c0004t0072g0248
a0001c0004t0072g0248
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.1893-56894A>C
c.1893-56894A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36824179
chr21:36824588 A
A
 G
G
 3 a0001c0001t0022g0187
a0001c0001t0069g0255
a0001c0001t0093g0133
a0001c0001t0022g0187
a0001c0001t0069g0255
a0001c0001t0093g0133
 3 HG01099.hp2
HG01884.hp1
HG02809.hp2
HG01099.hp2
HG01884.hp1
HG02809.hp2
 intron_variant MODIFIER c.1893-57303T>C
c.1893-57303T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36824588
chr21:36824598 C
C
 A
A
 3 a0001c0001t0018g0176
a0002c0002t0043g0152
a0005c0011t0033g0139
a0001c0001t0018g0176
a0002c0002t0043g0152
a0005c0011t0033g0139
 3 HG02886.hp2
HG02976.hp2
HG03471.hp1
HG02886.hp2
HG02976.hp2
HG03471.hp1
 intron_variant MODIFIER c.1893-57313G>T
c.1893-57313G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36824598
chr21:36824858 C
C
 T
T
 13 a0001c0001t0002g0174
a0001c0001t0003g0226
a0001c0001t0005g0021
others(10): Show 
a0001c0001t0002g0174
a0001c0001t0003g0226
a0001c0001t0005g0021
a0001c0001t0005g0056
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0007t0007g0200
a0001c0007t0012g0207
a0008c0012t0035g0069
 13 HG00323.hp1
HG01106.hp1
HG01109.hp2
others(10): Show 
HG00323.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01256.hp2
HG01258.hp2
HG02257.hp1
HG03669.hp1
NA18940.hp1
NA18942.hp1
NA18950.hp1
NA18984.hp1
NA20805.hp2
 intron_variant MODIFIER c.1893-57573G>A
c.1893-57573G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36824858
chr21:36825005 G
G
 T
T
 3 a0001c0001t0047g0188
a0002c0002t0015g0142
a0003c0005t0058g0214
a0001c0001t0047g0188
a0002c0002t0015g0142
a0003c0005t0058g0214
 3 HG02723.hp1
HG02895.hp2
HG03540.hp2
HG02723.hp1
HG02895.hp2
HG03540.hp2
 intron_variant MODIFIER c.1893-57720C>A
c.1893-57720C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36825005
chr21:36825211 C
C
 T
T
 33 a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0002g0193
others(30): Show 
a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0005g0115
a0001c0001t0008g0078
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0016g0098
a0001c0001t0020g0002
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0031g0245
a0001c0001t0038g0054
a0001c0001t0051g0168
a0001c0001t0057g0225
a0001c0001t0073g0246
a0001c0001t0085g0110
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0067g0067
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0018t0004g0060
a0002c0002t0025g0149
 33 HG01884.hp2
HG01891.hp1
HG02080.hp1
others(30): Show 
HG01884.hp2
HG01891.hp1
HG02080.hp1
HG02129.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02922.hp2
HG02965.hp2
HG03130.hp1
HG03453.hp2
HG03516.hp1
HG03710.hp2
HG03927.hp1
HG04115.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18939.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp2
NA18952.hp2
NA18959.hp2
NA18971.hp2
NA18979.hp1
NA19004.hp1
NA19009.hp2
NA19084.hp1
 intron_variant MODIFIER c.1893-57926G>A
c.1893-57926G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36825211
chr21:36825284 C
C
 A
A
 91 a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
others(88): Show 
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0037g0254
a0001c0001t0038g0102
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0061g0163
a0001c0001t0069g0255
a0001c0001t0075g0049
a0001c0001t0081g0016
a0001c0001t0090g0005
a0001c0001t0093g0133
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0042g0209
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0017t0108g0082
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0040g0242
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0092g0134
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 91 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(88): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01496.hp1
HG01884.hp1
HG01952.hp2
HG01975.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03927.hp2
HG04204.hp2
NA18522.hp2
NA18940.hp1
NA18942.hp1
NA18944.hp1
NA18950.hp1
NA18951.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18975.hp1
NA18984.hp1
NA18993.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19240.hp1
NA20805.hp2
 intron_variant MODIFIER c.1893-57999G>T
c.1893-57999G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36825284
chr21:36825322 C
C
 T
T
 2 a0002c0002t0040g0242
a0002c0002t0064g0243
a0002c0002t0040g0242
a0002c0002t0064g0243
 2 HG02559.hp2
HG03041.hp1
HG02559.hp2
HG03041.hp1
 intron_variant MODIFIER c.1893-58037G>A
c.1893-58037G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36825322
chr21:36825629 T
T
 G
G
 1 a0001c0001t0028g0167
a0001c0001t0028g0167
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.1893-58344A>C
c.1893-58344A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36825629
chr21:36825734 G
G
 A
A
 28 a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0002g0193
others(25): Show 
a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0005g0115
a0001c0001t0008g0078
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0016g0098
a0001c0001t0020g0002
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0038g0054
a0001c0001t0051g0168
a0001c0001t0057g0225
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0018t0004g0060
 28 HG01884.hp2
HG02080.hp1
HG02129.hp1
others(25): Show 
HG01884.hp2
HG02080.hp1
HG02129.hp1
HG02523.hp2
HG02572.hp1
HG02622.hp1
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02922.hp2
HG02965.hp2
HG03130.hp1
HG03453.hp2
HG03710.hp2
HG03927.hp1
HG04115.hp2
HG04228.hp2
NA18939.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp2
NA18952.hp2
NA18959.hp2
NA18971.hp2
NA18979.hp1
NA19004.hp1
NA19009.hp2
NA19084.hp1
 intron_variant MODIFIER c.1893-58449C>T
c.1893-58449C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36825734
chr21:36825746 A
A
 G
G
 136 a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0001g0128
others(133): Show 
a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0098
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0069g0255
a0001c0001t0073g0246
a0001c0001t0075g0049
a0001c0001t0081g0016
a0001c0001t0085g0110
a0001c0001t0090g0005
a0001c0001t0093g0133
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0040g0242
a0002c0002t0043g0152
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0092g0134
a0005c0011t0033g0139
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 136 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(133): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
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.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18944.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp2
NA18959.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp2
NA18975.hp1
NA18979.hp1
NA18984.hp1
NA18993.hp2
NA19004.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19084.hp1
NA19240.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1893-58461T>C
c.1893-58461T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36825746
chr21:36825870 G
G
 A
A
 136 a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0001g0128
others(133): Show 
a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0098
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0069g0255
a0001c0001t0073g0246
a0001c0001t0075g0049
a0001c0001t0081g0016
a0001c0001t0085g0110
a0001c0001t0090g0005
a0001c0001t0093g0133
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0040g0242
a0002c0002t0043g0152
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0092g0134
a0005c0011t0033g0139
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 136 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(133): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
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.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18944.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp2
NA18959.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp2
NA18975.hp1
NA18979.hp1
NA18984.hp1
NA18993.hp2
NA19004.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19084.hp1
NA19240.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1893-58585C>T
c.1893-58585C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36825870
chr21:36825988 A
A
 G
G
 91 a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
others(88): Show 
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0037g0254
a0001c0001t0038g0102
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0061g0163
a0001c0001t0069g0255
a0001c0001t0075g0049
a0001c0001t0081g0016
a0001c0001t0090g0005
a0001c0001t0093g0133
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0042g0209
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0017t0108g0082
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0040g0242
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0092g0134
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 91 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(88): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01496.hp1
HG01884.hp1
HG01952.hp2
HG01975.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03927.hp2
HG04204.hp2
NA18522.hp2
NA18940.hp1
NA18942.hp1
NA18944.hp1
NA18950.hp1
NA18951.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18975.hp1
NA18984.hp1
NA18993.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19240.hp1
NA20805.hp2
 intron_variant MODIFIER c.1893-58703T>C
c.1893-58703T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36825988
chr21:36826015 G
G
 A
A
 22 a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0002g0232
others(19): Show 
a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0005g0115
a0001c0001t0008g0078
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0016g0098
a0001c0001t0020g0002
a0001c0001t0051g0168
a0001c0001t0057g0225
a0001c0001t0109g0119
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0018t0004g0060
 22 HG02080.hp1
HG02129.hp1
HG02523.hp2
others(19): Show 
HG02080.hp1
HG02129.hp1
HG02523.hp2
HG02622.hp1
HG02896.hp2
HG02965.hp2
HG03130.hp1
HG03710.hp2
HG03927.hp1
HG04115.hp2
HG04228.hp2
NA18939.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp2
NA18952.hp2
NA18959.hp2
NA18971.hp2
NA18979.hp1
NA19004.hp1
NA19009.hp2
NA19084.hp1
 intron_variant MODIFIER c.1893-58730C>T
c.1893-58730C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36826015
chr21:36826027 AT
AT
 A
A
 15 a0001c0001t0001g0027
a0001c0001t0006g0256
a0001c0001t0018g0189
others(12): Show 
a0001c0001t0001g0027
a0001c0001t0006g0256
a0001c0001t0018g0189
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0030g0257
a0001c0001t0069g0255
a0001c0001t0093g0133
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0068g0088
a0001c0017t0108g0082
a0002c0002t0002g0154
a0007c0014t0070g0131
 15 HG00741.hp1
HG01099.hp2
HG01884.hp1
others(12): Show 
HG00741.hp1
HG01099.hp2
HG01884.hp1
HG01952.hp2
HG02615.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG03098.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
NA18948.hp1
NA18951.hp1
 intron_variant MODIFIER c.1893-58743delA
c.1893-58743delA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36826027
chr21:36826029 T
T
 A
A
 1 a0001c0001t0019g0101
a0001c0001t0019g0101
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.1893-58744A>T
c.1893-58744A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36826029
chr21:36826030 T
T
 A
A
 3 a0001c0001t0011g0022
a0001c0001t0079g0026
a0001c0001t0110g0023
a0001c0001t0011g0022
a0001c0001t0079g0026
a0001c0001t0110g0023
 3 NA18968.hp1
NA18971.hp1
NA18977.hp1
NA18968.hp1
NA18971.hp1
NA18977.hp1
 intron_variant MODIFIER c.1893-58745A>T
c.1893-58745A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36826030
chr21:36826159 C
C
 T
T
 44 a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0002g0193
others(41): Show 
a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0005g0115
a0001c0001t0008g0078
a0001c0001t0010g0213
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0098
a0001c0001t0018g0176
a0001c0001t0020g0002
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0031g0245
a0001c0001t0038g0054
a0001c0001t0051g0168
a0001c0001t0057g0225
a0001c0001t0063g0208
a0001c0001t0073g0246
a0001c0001t0085g0110
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0018t0004g0060
a0002c0002t0025g0149
a0002c0002t0043g0152
a0003c0005t0002g0195
a0003c0005t0027g0218
a0005c0011t0033g0139
 44 HG01884.hp2
HG01891.hp1
HG02080.hp1
others(41): Show 
HG01884.hp2
HG01891.hp1
HG02080.hp1
HG02129.hp1
HG02280.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03130.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp1
HG03579.hp1
HG03710.hp2
HG03927.hp1
HG04115.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18939.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp2
NA18952.hp2
NA18959.hp2
NA18971.hp2
NA18979.hp1
NA19004.hp1
NA19009.hp2
NA19084.hp1
NA20129.hp1
 intron_variant MODIFIER c.1893-58874G>A
c.1893-58874G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36826159
chr21:36826349 G
G
 C
C
 91 a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
others(88): Show 
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0037g0254
a0001c0001t0038g0102
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0061g0163
a0001c0001t0069g0255
a0001c0001t0075g0049
a0001c0001t0081g0016
a0001c0001t0090g0005
a0001c0001t0093g0133
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0042g0209
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0017t0108g0082
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0040g0242
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0092g0134
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 91 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(88): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01496.hp1
HG01884.hp1
HG01952.hp2
HG01975.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03927.hp2
HG04204.hp2
NA18522.hp2
NA18940.hp1
NA18942.hp1
NA18944.hp1
NA18950.hp1
NA18951.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18975.hp1
NA18984.hp1
NA18993.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19240.hp1
NA20805.hp2
 intron_variant MODIFIER c.1893-59064C>G
c.1893-59064C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36826349
chr21:36826350 A
A
 C
C
 1 a0001c0001t0013g0223
a0001c0001t0013g0223
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.1893-59065T>G
c.1893-59065T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36826350
chr21:36826357 G
G
 A
A
 4 a0001c0001t0019g0101
a0001c0001t0028g0167
a0001c0004t0042g0209
others(1): Show 
a0001c0001t0019g0101
a0001c0001t0028g0167
a0001c0004t0042g0209
a0001c0004t0072g0248
 4 HG00735.hp1
HG03225.hp1
HG03471.hp2
others(1): Show 
HG00735.hp1
HG03225.hp1
HG03471.hp2
NA19030.hp1
 intron_variant MODIFIER c.1893-59072C>T
c.1893-59072C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36826357
chr21:36826411 A
A
 G
G
 91 a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
others(88): Show 
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0037g0254
a0001c0001t0038g0102
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0061g0163
a0001c0001t0069g0255
a0001c0001t0075g0049
a0001c0001t0081g0016
a0001c0001t0090g0005
a0001c0001t0093g0133
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0042g0209
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0017t0108g0082
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0040g0242
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0092g0134
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 91 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(88): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01496.hp1
HG01884.hp1
HG01952.hp2
HG01975.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03927.hp2
HG04204.hp2
NA18522.hp2
NA18940.hp1
NA18942.hp1
NA18944.hp1
NA18950.hp1
NA18951.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18975.hp1
NA18984.hp1
NA18993.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19240.hp1
NA20805.hp2
 intron_variant MODIFIER c.1893-59126T>C
c.1893-59126T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36826411
chr21:36826613 A
A
 C
C
 3 a0001c0001t0018g0176
a0002c0002t0043g0152
a0005c0011t0033g0139
a0001c0001t0018g0176
a0002c0002t0043g0152
a0005c0011t0033g0139
 3 HG02886.hp2
HG02976.hp2
HG03471.hp1
HG02886.hp2
HG02976.hp2
HG03471.hp1
 intron_variant MODIFIER c.1893-59328T>G
c.1893-59328T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36826613
chr21:36826645 G
G
 A
A
 33 a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0002g0193
others(30): Show 
a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0005g0115
a0001c0001t0008g0078
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0016g0098
a0001c0001t0020g0002
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0031g0245
a0001c0001t0038g0054
a0001c0001t0051g0168
a0001c0001t0057g0225
a0001c0001t0073g0246
a0001c0001t0085g0110
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0067g0067
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0018t0004g0060
a0002c0002t0025g0149
 33 HG01884.hp2
HG01891.hp1
HG02080.hp1
others(30): Show 
HG01884.hp2
HG01891.hp1
HG02080.hp1
HG02129.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02922.hp2
HG02965.hp2
HG03130.hp1
HG03453.hp2
HG03516.hp1
HG03710.hp2
HG03927.hp1
HG04115.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18939.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp2
NA18952.hp2
NA18959.hp2
NA18971.hp2
NA18979.hp1
NA19004.hp1
NA19009.hp2
NA19084.hp1
 intron_variant MODIFIER c.1893-59360C>T
c.1893-59360C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36826645
chr21:36826648 C
C
 A
A
 2 a0001c0001t0019g0101
a0001c0004t0042g0209
a0001c0001t0019g0101
a0001c0004t0042g0209
 2 HG00735.hp1
NA19030.hp1
HG00735.hp1
NA19030.hp1
 intron_variant MODIFIER c.1893-59363G>T
c.1893-59363G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36826648
chr21:36826947 G
G
 A
A
 1 a0002c0002t0064g0243
a0002c0002t0064g0243
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.1893-59662C>T
c.1893-59662C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36826947
chr21:36826949 T
T
 C
C
 5 a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0001t0085g0110
others(2): Show 
a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0001t0085g0110
a0001c0004t0067g0067
a0002c0002t0025g0149
 5 HG01891.hp1
HG02559.hp1
HG03516.hp1
others(2): Show 
HG01891.hp1
HG02559.hp1
HG03516.hp1
HG06807.hp1
HG06807.hp2
 intron_variant MODIFIER c.1893-59664A>G
c.1893-59664A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36826949
chr21:36827078 C
C
 T
T
 1 a0001c0001t0028g0167
a0001c0001t0028g0167
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.1893-59793G>A
c.1893-59793G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36827078
chr21:36827118 G
G
 C
C
 44 a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0002g0193
others(41): Show 
a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0005g0115
a0001c0001t0008g0078
a0001c0001t0010g0213
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0098
a0001c0001t0018g0176
a0001c0001t0020g0002
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0031g0245
a0001c0001t0038g0054
a0001c0001t0051g0168
a0001c0001t0057g0225
a0001c0001t0063g0208
a0001c0001t0073g0246
a0001c0001t0085g0110
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0018t0004g0060
a0002c0002t0025g0149
a0002c0002t0043g0152
a0003c0005t0002g0195
a0003c0005t0027g0218
a0005c0011t0033g0139
 44 HG01884.hp2
HG01891.hp1
HG02080.hp1
others(41): Show 
HG01884.hp2
HG01891.hp1
HG02080.hp1
HG02129.hp1
HG02280.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03130.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp1
HG03579.hp1
HG03710.hp2
HG03927.hp1
HG04115.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18939.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp2
NA18952.hp2
NA18959.hp2
NA18971.hp2
NA18979.hp1
NA19004.hp1
NA19009.hp2
NA19084.hp1
NA20129.hp1
 intron_variant MODIFIER c.1893-59833C>G
c.1893-59833C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36827118
chr21:36827331 T
T
 C
C
 91 a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
others(88): Show 
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0037g0254
a0001c0001t0038g0102
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0061g0163
a0001c0001t0069g0255
a0001c0001t0075g0049
a0001c0001t0081g0016
a0001c0001t0090g0005
a0001c0001t0093g0133
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0042g0209
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0017t0108g0082
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0040g0242
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0092g0134
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 91 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(88): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01496.hp1
HG01884.hp1
HG01952.hp2
HG01975.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03927.hp2
HG04204.hp2
NA18522.hp2
NA18940.hp1
NA18942.hp1
NA18944.hp1
NA18950.hp1
NA18951.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18975.hp1
NA18984.hp1
NA18993.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19240.hp1
NA20805.hp2
 intron_variant MODIFIER c.1893-60046A>G
c.1893-60046A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36827331
chr21:36827385 A
A
 G
G
 77 a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
others(74): Show 
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0030g0048
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0037g0254
a0001c0001t0038g0102
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0061g0163
a0001c0001t0075g0049
a0001c0001t0081g0016
a0001c0001t0090g0005
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0004t0042g0209
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0017t0108g0082
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0062g0145
a0003c0005t0092g0134
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 77 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(74): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01496.hp1
HG01975.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02572.hp2
HG02615.hp1
HG02647.hp1
HG02683.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp1
HG02976.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03927.hp2
HG04204.hp2
NA18522.hp2
NA18940.hp1
NA18942.hp1
NA18944.hp1
NA18950.hp1
NA18951.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18975.hp1
NA18984.hp1
NA18993.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19240.hp1
NA20805.hp2
 intron_variant MODIFIER c.1893-60100T>C
c.1893-60100T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36827385
chr21:36827437 G
G
 A
A
 77 a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
others(74): Show 
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0030g0048
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0037g0254
a0001c0001t0038g0102
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0061g0163
a0001c0001t0075g0049
a0001c0001t0081g0016
a0001c0001t0090g0005
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0004t0042g0209
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0017t0108g0082
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0062g0145
a0003c0005t0092g0134
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 77 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(74): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01496.hp1
HG01975.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02572.hp2
HG02615.hp1
HG02647.hp1
HG02683.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp1
HG02976.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03927.hp2
HG04204.hp2
NA18522.hp2
NA18940.hp1
NA18942.hp1
NA18944.hp1
NA18950.hp1
NA18951.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18975.hp1
NA18984.hp1
NA18993.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19240.hp1
NA20805.hp2
 intron_variant MODIFIER c.1893-60152C>T
c.1893-60152C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36827437
chr21:36827573 C
C
 CA
CA
 85 a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0071
others(82): Show 
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0071
a0001c0001t0001g0128
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0004g0045
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0135
a0001c0001t0006g0019
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0065
a0001c0001t0008g0084
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0236
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0118
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0018g0189
a0001c0001t0019g0247
a0001c0001t0021g0076
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0037g0254
a0001c0001t0038g0102
a0001c0001t0049g0233
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0061g0163
a0001c0001t0075g0049
a0001c0001t0081g0016
a0001c0001t0098g0035
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0017t0108g0082
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0062g0145
a0003c0005t0092g0134
a0008c0012t0035g0069
a0009c0009t0012g0196
 85 HG00323.hp1
HG00323.hp2
HG00738.hp2
others(82): Show 
HG00323.hp1
HG00323.hp2
HG00738.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02300.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03927.hp2
NA18522.hp2
NA18940.hp1
NA18942.hp1
NA18944.hp1
NA18947.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18975.hp1
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp1
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19240.hp1
NA20805.hp2
 intron_variant MODIFIER c.1893-60289dupT
c.1893-60289dupT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36827573
chr21:36827573 C
C
 CAA
CAA
 11 a0001c0001t0004g0015
a0001c0001t0006g0132
a0001c0001t0010g0164
others(8): Show 
a0001c0001t0004g0015
a0001c0001t0006g0132
a0001c0001t0010g0164
a0001c0001t0019g0101
a0001c0001t0022g0187
a0001c0001t0090g0005
a0001c0001t0093g0133
a0001c0001t0099g0124
a0001c0004t0042g0209
a0002c0002t0025g0146
a0007c0014t0070g0131
 11 HG00735.hp1
HG00741.hp1
HG01099.hp2
others(8): Show 
HG00735.hp1
HG00741.hp1
HG01099.hp2
HG01243.hp1
HG01884.hp1
HG02280.hp2
HG02976.hp1
HG04204.hp2
NA18993.hp2
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.1893-60290_1893-60
others(8): Show 
c.1893-60290_1893-60289dupTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36827573
chr21:36827676 G
G
 C
C
 4 a0001c0001t0019g0061
a0001c0001t0031g0057
a0002c0002t0040g0242
others(1): Show 
a0001c0001t0019g0061
a0001c0001t0031g0057
a0002c0002t0040g0242
a0002c0002t0064g0243
 4 HG01109.hp1
HG02559.hp2
HG02717.hp1
others(1): Show 
HG01109.hp1
HG02559.hp2
HG02717.hp1
HG03041.hp1
 intron_variant MODIFIER c.1893-60391C>G
c.1893-60391C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36827676
chr21:36827679 G
G
 A
A
 10 a0001c0001t0006g0256
a0001c0001t0018g0189
a0001c0001t0022g0187
others(7): Show 
a0001c0001t0006g0256
a0001c0001t0018g0189
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0030g0257
a0001c0001t0069g0255
a0001c0001t0093g0133
a0001c0004t0017g0219
a0001c0004t0017g0220
 10 HG01099.hp2
HG01884.hp1
HG01952.hp2
others(7): Show 
HG01099.hp2
HG01884.hp1
HG01952.hp2
HG02615.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG03098.hp2
HG03130.hp2
HG03225.hp2
 intron_variant MODIFIER c.1893-60394C>T
c.1893-60394C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36827679
chr21:36827724 C
C
 T
T
 1 a0001c0001t0028g0167
a0001c0001t0028g0167
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.1893-60439G>A
c.1893-60439G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36827724
chr21:36827725 T
T
 C
C
 4 a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
others(1): Show 
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
 4 HG02145.hp1
HG03195.hp1
HG03195.hp2
others(1): Show 
HG02145.hp1
HG03195.hp1
HG03195.hp2
NA19043.hp2
 intron_variant MODIFIER c.1893-60440A>G
c.1893-60440A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36827725
chr21:36827773 G
G
 A
A
 1 a0003c0005t0058g0214
a0003c0005t0058g0214
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.1893-60488C>T
c.1893-60488C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36827773
chr21:36827808 T
T
 C
C
 2 a0002c0002t0040g0242
a0002c0002t0064g0243
a0002c0002t0040g0242
a0002c0002t0064g0243
 2 HG02559.hp2
HG03041.hp1
HG02559.hp2
HG03041.hp1
 intron_variant MODIFIER c.1893-60523A>G
c.1893-60523A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36827808
chr21:36827817 C
C
 CT
CT
 85 a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
others(82): Show 
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0018g0189
a0001c0001t0019g0247
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0038g0102
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0061g0163
a0001c0001t0069g0255
a0001c0001t0073g0246
a0001c0001t0075g0049
a0001c0001t0081g0016
a0001c0001t0085g0110
a0001c0001t0090g0005
a0001c0001t0093g0133
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0017t0108g0082
a0002c0002t0018g0153
a0002c0002t0025g0149
a0003c0005t0092g0134
a0004c0019t0112g0258
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 85 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(82): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01496.hp1
HG01884.hp1
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp2
HG02109.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02300.hp2
HG02486.hp1
HG02559.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp2
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02976.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03927.hp2
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18940.hp1
NA18942.hp1
NA18944.hp1
NA18950.hp1
NA18951.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18975.hp1
NA18984.hp1
NA18993.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19240.hp1
NA20805.hp2
 intron_variant MODIFIER c.1893-60533dupA
c.1893-60533dupA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36827817
chr21:36827936 C
C
 A
A
 2 a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0181
a0001c0001t0014g0182
 2 HG01168.hp2
HG01169.hp1
HG01168.hp2
HG01169.hp1
 intron_variant MODIFIER c.1893-60651G>T
c.1893-60651G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36827936
chr21:36827959 T
T
 G
G
 136 a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0001g0128
others(133): Show 
a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0098
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0069g0255
a0001c0001t0073g0246
a0001c0001t0075g0049
a0001c0001t0081g0016
a0001c0001t0085g0110
a0001c0001t0090g0005
a0001c0001t0093g0133
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0040g0242
a0002c0002t0043g0152
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0092g0134
a0005c0011t0033g0139
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 136 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(133): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
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.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18944.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp2
NA18959.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp2
NA18975.hp1
NA18979.hp1
NA18984.hp1
NA18993.hp2
NA19004.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19084.hp1
NA19240.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1893-60674A>C
c.1893-60674A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36827959
chr21:36827962 C
C
 T
T
 1 a0001c0001t0013g0223
a0001c0001t0013g0223
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.1893-60677G>A
c.1893-60677G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36827962
chr21:36828003 T
T
 C
C
 79 a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
others(76): Show 
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0037g0254
a0001c0001t0038g0102
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0061g0163
a0001c0001t0075g0049
a0001c0001t0081g0016
a0001c0001t0090g0005
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0004t0042g0209
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0017t0108g0082
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0062g0145
a0003c0005t0092g0134
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 79 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(76): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01496.hp1
HG01975.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02572.hp2
HG02615.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp1
HG02895.hp1
HG02897.hp1
HG02922.hp1
HG02976.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03927.hp2
HG04204.hp2
NA18522.hp2
NA18940.hp1
NA18942.hp1
NA18944.hp1
NA18950.hp1
NA18951.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18975.hp1
NA18984.hp1
NA18993.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19240.hp1
NA20805.hp2
 intron_variant MODIFIER c.1893-60718A>G
c.1893-60718A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36828003
chr21:36828006 G
G
 T
T
 28 a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0002g0193
others(25): Show 
a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0005g0115
a0001c0001t0008g0078
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0016g0098
a0001c0001t0020g0002
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0038g0054
a0001c0001t0051g0168
a0001c0001t0057g0225
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0018t0004g0060
 28 HG01884.hp2
HG02080.hp1
HG02129.hp1
others(25): Show 
HG01884.hp2
HG02080.hp1
HG02129.hp1
HG02523.hp2
HG02572.hp1
HG02622.hp1
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02922.hp2
HG02965.hp2
HG03130.hp1
HG03453.hp2
HG03710.hp2
HG03927.hp1
HG04115.hp2
HG04228.hp2
NA18939.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp2
NA18952.hp2
NA18959.hp2
NA18971.hp2
NA18979.hp1
NA19004.hp1
NA19009.hp2
NA19084.hp1
 intron_variant MODIFIER c.1893-60721C>A
c.1893-60721C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36828006
chr21:36828049 G
G
 A
A
 2 a0001c0001t0001g0080
a0001c0001t0102g0063
a0001c0001t0001g0080
a0001c0001t0102g0063
 2 HG02135.hp1
NA18948.hp2
HG02135.hp1
NA18948.hp2
 intron_variant MODIFIER c.1893-60764C>T
c.1893-60764C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36828049
chr21:36828071 C
C
 G
G
 22 a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0002g0232
others(19): Show 
a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0005g0115
a0001c0001t0008g0078
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0016g0098
a0001c0001t0020g0002
a0001c0001t0051g0168
a0001c0001t0057g0225
a0001c0001t0109g0119
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0018t0004g0060
 22 HG02080.hp1
HG02129.hp1
HG02523.hp2
others(19): Show 
HG02080.hp1
HG02129.hp1
HG02523.hp2
HG02622.hp1
HG02896.hp2
HG02965.hp2
HG03130.hp1
HG03710.hp2
HG03927.hp1
HG04115.hp2
HG04228.hp2
NA18939.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp2
NA18952.hp2
NA18959.hp2
NA18971.hp2
NA18979.hp1
NA19004.hp1
NA19009.hp2
NA19084.hp1
 intron_variant MODIFIER c.1893-60786G>C
c.1893-60786G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36828071
chr21:36828104 T
T
 C
C
 136 a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0001g0128
others(133): Show 
a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0098
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0069g0255
a0001c0001t0073g0246
a0001c0001t0075g0049
a0001c0001t0081g0016
a0001c0001t0085g0110
a0001c0001t0090g0005
a0001c0001t0093g0133
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0040g0242
a0002c0002t0043g0152
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0092g0134
a0005c0011t0033g0139
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 136 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(133): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
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.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18944.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp2
NA18959.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp2
NA18975.hp1
NA18979.hp1
NA18984.hp1
NA18993.hp2
NA19004.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19084.hp1
NA19240.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1893-60819A>G
c.1893-60819A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36828104
chr21:36828191 A
A
 G
G
 2 a0002c0002t0040g0242
a0002c0002t0064g0243
a0002c0002t0040g0242
a0002c0002t0064g0243
 2 HG02559.hp2
HG03041.hp1
HG02559.hp2
HG03041.hp1
 intron_variant MODIFIER c.1893-60906T>C
c.1893-60906T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36828191
chr21:36828278 G
G
 A
A
 1 a0001c0001t0004g0045
a0001c0001t0004g0045
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.1893-60993C>T
c.1893-60993C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36828278
chr21:36828293 T
T
 C
C
 5 a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0001t0085g0110
others(2): Show 
a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0001t0085g0110
a0001c0004t0067g0067
a0002c0002t0025g0149
 5 HG01891.hp1
HG02559.hp1
HG03516.hp1
others(2): Show 
HG01891.hp1
HG02559.hp1
HG03516.hp1
HG06807.hp1
HG06807.hp2
 intron_variant MODIFIER c.1893-61008A>G
c.1893-61008A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36828293
chr21:36828366 G
G
 GGAAT
GGAAT
 40 a0001c0001t0001g0011
a0001c0001t0001g0071
a0001c0001t0001g0122
others(37): Show 
a0001c0001t0001g0011
a0001c0001t0001g0071
a0001c0001t0001g0122
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0238
a0001c0001t0003g0173
a0001c0001t0003g0226
a0001c0001t0004g0009
a0001c0001t0004g0138
a0001c0001t0005g0135
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0018
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0229
a0001c0001t0011g0107
a0001c0001t0014g0159
a0001c0001t0038g0102
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0061g0163
a0001c0001t0065g0252
a0001c0001t0071g0089
a0001c0001t0075g0049
a0001c0001t0078g0108
a0001c0001t0081g0016
a0001c0001t0090g0005
a0001c0001t0106g0253
a0001c0004t0068g0088
a0002c0002t0002g0155
a0002c0002t0027g0157
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
 40 HG00323.hp2
HG01175.hp1
HG01192.hp1
others(37): Show 
HG00323.hp2
HG01175.hp1
HG01192.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01496.hp1
HG01978.hp1
HG02109.hp1
HG02135.hp2
HG02523.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp2
HG02683.hp2
HG03041.hp2
HG03195.hp2
HG03239.hp1
HG03490.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03927.hp2
HG04204.hp2
NA18522.hp1
NA18939.hp2
NA18942.hp2
NA18967.hp1
NA18984.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.1893-61085_1893-61
others(10): Show 
c.1893-61085_1893-61082dupATTC
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36828366
chr21:36828366 G
G
 GGAATGAA
others(1): Show 
GGAATGAAT
 13 a0001c0001t0002g0179
a0001c0001t0003g0175
a0001c0001t0003g0184
others(10): Show 
a0001c0001t0002g0179
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0005g0056
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0028g0192
a0001c0001t0044g0161
a0001c0001t0098g0035
a0001c0004t0017g0224
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0010t0011g0020
 13 HG02145.hp1
HG02486.hp2
HG02647.hp2
others(10): Show 
HG02145.hp1
HG02486.hp2
HG02647.hp2
HG03139.hp1
NA18942.hp1
NA18944.hp1
NA18951.hp2
NA18968.hp2
NA18970.hp1
NA18975.hp1
NA18993.hp2
NA19043.hp2
NA19068.hp2
 intron_variant MODIFIER c.1893-61089_1893-61
others(14): Show 
c.1893-61089_1893-61082dupATTCATTC
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36828366
chr21:36828366 G
G
 GGAATGAA
others(5): Show 
GGAATGAATGAAT
 2 a0002c0002t0015g0142
a0003c0005t0058g0214
a0002c0002t0015g0142
a0003c0005t0058g0214
 2 HG02723.hp1
HG03540.hp2
HG02723.hp1
HG03540.hp2
 intron_variant MODIFIER c.1893-61093_1893-61
others(18): Show 
c.1893-61093_1893-61082dupATTCATTCATTC
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36828366
chr21:36828366 GGAAT
GGAAT
 G
G
 31 a0001c0001t0001g0006
a0001c0001t0001g0024
a0001c0001t0001g0028
others(28): Show 
a0001c0001t0001g0006
a0001c0001t0001g0024
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0041
a0001c0001t0001g0062
a0001c0001t0001g0068
a0001c0001t0001g0079
a0001c0001t0002g0193
a0001c0001t0004g0007
a0001c0001t0005g0003
a0001c0001t0005g0094
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0018g0176
a0001c0001t0028g0167
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0037g0083
a0001c0001t0038g0054
a0001c0001t0049g0233
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0083g0013
a0001c0001t0101g0008
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0004t0072g0248
a0002c0002t0043g0152
a0005c0011t0033g0139
 31 HG00438.hp1
HG00639.hp2
HG00738.hp1
others(28): Show 
HG00438.hp1
HG00639.hp2
HG00738.hp1
HG01081.hp2
HG01099.hp1
HG01243.hp2
HG01257.hp1
HG01433.hp1
HG01515.hp2
HG01516.hp1
HG01884.hp2
HG01975.hp2
HG01978.hp2
HG02129.hp2
HG02572.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp2
HG02922.hp2
HG02976.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
NA18940.hp2
NA18945.hp1
NA18968.hp1
NA18971.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
 intron_variant MODIFIER c.1893-61085_1893-61
others(10): Show 
c.1893-61085_1893-61082delATTC
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36828366
chr21:36828366 GGAATGAA
others(1): Show 
GGAATGAAT
 G
G
 29 a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0002g0232
others(26): Show 
a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0045
a0001c0001t0005g0115
a0001c0001t0008g0078
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0016g0098
a0001c0001t0019g0061
a0001c0001t0020g0002
a0001c0001t0031g0057
a0001c0001t0037g0254
a0001c0001t0051g0168
a0001c0001t0057g0225
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0018t0004g0060
a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0062g0145
 29 HG01109.hp1
HG02080.hp1
HG02109.hp2
others(26): Show 
HG01109.hp1
HG02080.hp1
HG02109.hp2
HG02129.hp1
HG02280.hp2
HG02486.hp1
HG02523.hp2
HG02622.hp1
HG02717.hp1
HG02896.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp2
HG03209.hp2
HG03710.hp2
HG03927.hp1
HG04115.hp2
HG04228.hp2
NA18939.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp2
NA18952.hp2
NA18959.hp2
NA18971.hp2
NA18979.hp1
NA19004.hp1
NA19009.hp2
NA19084.hp1
 intron_variant MODIFIER c.1893-61089_1893-61
others(14): Show 
c.1893-61089_1893-61082delATTCATTC
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36828366
chr21:36828366 GGAATGAA
others(5): Show 
GGAATGAATGAAT
 G
G
 3 a0001c0001t0109g0119
a0002c0002t0040g0242
a0002c0002t0064g0243
a0001c0001t0109g0119
a0002c0002t0040g0242
a0002c0002t0064g0243
 3 HG02559.hp2
HG02965.hp2
HG03041.hp1
HG02559.hp2
HG02965.hp2
HG03041.hp1
 intron_variant MODIFIER c.1893-61093_1893-61
others(18): Show 
c.1893-61093_1893-61082delATTCATTCATTC
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36828366
chr21:36828366 GGAATGAA
others(9): Show 
GGAATGAATGAATGAAT
 G
G
 10 a0001c0001t0006g0256
a0001c0001t0018g0189
a0001c0001t0022g0187
others(7): Show 
a0001c0001t0006g0256
a0001c0001t0018g0189
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0030g0257
a0001c0001t0069g0255
a0001c0001t0093g0133
a0001c0004t0017g0219
a0001c0004t0017g0220
 10 HG01099.hp2
HG01884.hp1
HG01952.hp2
others(7): Show 
HG01099.hp2
HG01884.hp1
HG01952.hp2
HG02615.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG03098.hp2
HG03130.hp2
HG03225.hp2
 intron_variant MODIFIER c.1893-61097_1893-61
others(22): Show 
c.1893-61097_1893-61082delATTCATTCATTCATTC
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36828366
chr21:36828503 T
T
 A
A
 1 a0001c0004t0072g0248
a0001c0004t0072g0248
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.1893-61218A>T
c.1893-61218A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36828503
chr21:36828829 T
T
 C
C
 1 a0001c0001t0013g0223
a0001c0001t0013g0223
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.1893-61544A>G
c.1893-61544A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36828829
chr21:36829153 C
C
 T
T
 1 a0001c0004t0042g0209
a0001c0004t0042g0209
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.1893-61868G>A
c.1893-61868G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36829153
chr21:36829418 A
A
 C
C
 3 a0001c0001t0037g0254
a0002c0002t0025g0146
a0002c0002t0062g0145
a0001c0001t0037g0254
a0002c0002t0025g0146
a0002c0002t0062g0145
 3 HG02109.hp2
HG02280.hp2
HG03209.hp2
HG02109.hp2
HG02280.hp2
HG03209.hp2
 intron_variant MODIFIER c.1893-62133T>G
c.1893-62133T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36829418
chr21:36829516 T
T
 C
C
 13 a0001c0001t0002g0174
a0001c0001t0003g0226
a0001c0001t0005g0021
others(10): Show 
a0001c0001t0002g0174
a0001c0001t0003g0226
a0001c0001t0005g0021
a0001c0001t0005g0056
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0007t0007g0200
a0001c0007t0012g0207
a0008c0012t0035g0069
 13 HG00323.hp1
HG01106.hp1
HG01109.hp2
others(10): Show 
HG00323.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01256.hp2
HG01258.hp2
HG02257.hp1
HG03669.hp1
NA18940.hp1
NA18942.hp1
NA18950.hp1
NA18984.hp1
NA20805.hp2
 intron_variant MODIFIER c.1893-62231A>G
c.1893-62231A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36829516
chr21:36829586 A
A
 G
G
 1 a0001c0001t0004g0045
a0001c0001t0004g0045
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.1893-62301T>C
c.1893-62301T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36829586
chr21:36829690 C
C
 T
T
 1 a0001c0001t0008g0084
a0001c0001t0008g0084
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.1893-62405G>A
c.1893-62405G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36829690
chr21:36829716 A
A
 T
T
 1 a0001c0001t0028g0167
a0001c0001t0028g0167
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.1893-62431T>A
c.1893-62431T>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36829716
chr21:36829742 C
C
 A
A
 22 a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0002g0232
others(19): Show 
a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0005g0115
a0001c0001t0008g0078
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0016g0098
a0001c0001t0020g0002
a0001c0001t0051g0168
a0001c0001t0057g0225
a0001c0001t0109g0119
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0018t0004g0060
 22 HG02080.hp1
HG02129.hp1
HG02523.hp2
others(19): Show 
HG02080.hp1
HG02129.hp1
HG02523.hp2
HG02622.hp1
HG02896.hp2
HG02965.hp2
HG03130.hp1
HG03710.hp2
HG03927.hp1
HG04115.hp2
HG04228.hp2
NA18939.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp2
NA18952.hp2
NA18959.hp2
NA18971.hp2
NA18979.hp1
NA19004.hp1
NA19009.hp2
NA19084.hp1
 intron_variant MODIFIER c.1893-62457G>T
c.1893-62457G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36829742
chr21:36829793 G
G
 A
A
 1 a0001c0004t0042g0209
a0001c0004t0042g0209
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.1893-62508C>T
c.1893-62508C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36829793
chr21:36829794 C
C
 A
A
 1 a0001c0001t0006g0132
a0001c0001t0006g0132
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.1893-62509G>T
c.1893-62509G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36829794
chr21:36829913 A
A
 T
T
 4 a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
others(1): Show 
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
 4 HG02145.hp1
HG03195.hp1
HG03195.hp2
others(1): Show 
HG02145.hp1
HG03195.hp1
HG03195.hp2
NA19043.hp2
 intron_variant MODIFIER c.1893-62628T>A
c.1893-62628T>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36829913
chr21:36829922 G
G
 C
C
 1 a0001c0004t0042g0209
a0001c0004t0042g0209
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.1893-62637C>G
c.1893-62637C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36829922
chr21:36829933 G
G
 A
A
 2 a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0232
a0001c0001t0002g0237
 2 NA19009.hp2
NA19084.hp1
NA19009.hp2
NA19084.hp1
 intron_variant MODIFIER c.1893-62648C>T
c.1893-62648C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36829933
chr21:36829991 T
T
 C
C
 1 a0001c0001t0006g0132
a0001c0001t0006g0132
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.1893-62706A>G
c.1893-62706A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36829991
chr21:36830174 C
C
 T
T
 1 a0007c0014t0070g0131
a0007c0014t0070g0131
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.1893-62889G>A
c.1893-62889G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36830174
chr21:36830194 G
G
 A
A
 2 a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0201
a0001c0001t0009g0202
 2 HG01256.hp2
HG01258.hp2
HG01256.hp2
HG01258.hp2
 intron_variant MODIFIER c.1893-62909C>T
c.1893-62909C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36830194
chr21:36830300 T
T
 C
C
 1 a0001c0001t0037g0254
a0001c0001t0037g0254
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.1893-63015A>G
c.1893-63015A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36830300
chr21:36830316 C
C
 G
G
 2 a0001c0001t0082g0112
a0001c0001t0096g0025
a0001c0001t0082g0112
a0001c0001t0096g0025
 2 HG01346.hp2
HG01981.hp1
HG01346.hp2
HG01981.hp1
 intron_variant MODIFIER c.1893-63031G>C
c.1893-63031G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36830316
chr21:36830343 G
G
 C
C
 73 a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
others(70): Show 
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0019g0247
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0030g0048
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0037g0254
a0001c0001t0038g0102
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0061g0163
a0001c0001t0075g0049
a0001c0001t0081g0016
a0001c0001t0090g0005
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0017t0108g0082
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0062g0145
a0003c0005t0092g0134
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 73 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(70): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01496.hp1
HG01975.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02572.hp2
HG02615.hp1
HG02647.hp1
HG02683.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp1
HG02976.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03927.hp2
HG04204.hp2
NA18522.hp2
NA18940.hp1
NA18942.hp1
NA18944.hp1
NA18950.hp1
NA18951.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18975.hp1
NA18984.hp1
NA18993.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19240.hp1
NA20805.hp2
 intron_variant MODIFIER c.1893-63058C>G
c.1893-63058C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36830343
chr21:36830391 C
C
 T
T
 1 a0001c0001t0001g0006
a0001c0001t0001g0006
 1 HG01516.hp1
HG01516.hp1
 intron_variant MODIFIER c.1893-63106G>A
c.1893-63106G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36830391
chr21:36830486 G
G
 A
A
 69 a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
others(66): Show 
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0019g0247
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0030g0048
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0038g0102
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0061g0163
a0001c0001t0075g0049
a0001c0001t0081g0016
a0001c0001t0090g0005
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0017t0108g0082
a0002c0002t0018g0153
a0003c0005t0092g0134
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 69 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(66): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01496.hp1
HG01975.hp1
HG02109.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02300.hp2
HG02486.hp1
HG02572.hp2
HG02615.hp1
HG02647.hp1
HG02683.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp1
HG02976.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03927.hp2
HG04204.hp2
NA18522.hp2
NA18940.hp1
NA18942.hp1
NA18944.hp1
NA18950.hp1
NA18951.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18975.hp1
NA18984.hp1
NA18993.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19240.hp1
NA20805.hp2
 intron_variant MODIFIER c.1893-63201C>T
c.1893-63201C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36830486
chr21:36830561 C
C
 T
T
 3 a0001c0001t0018g0176
a0002c0002t0043g0152
a0005c0011t0033g0139
a0001c0001t0018g0176
a0002c0002t0043g0152
a0005c0011t0033g0139
 3 HG02886.hp2
HG02976.hp2
HG03471.hp1
HG02886.hp2
HG02976.hp2
HG03471.hp1
 intron_variant MODIFIER c.1893-63276G>A
c.1893-63276G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36830561
chr21:36830613 C
C
 T
T
 1 a0001c0001t0019g0061
a0001c0001t0019g0061
 1 HG01109.hp1
HG01109.hp1
 intron_variant MODIFIER c.1893-63328G>A
c.1893-63328G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36830613
chr21:36830625 G
G
 C
C
 1 a0002c0002t0048g0144
a0002c0002t0048g0144
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.1893-63340C>G
c.1893-63340C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36830625
chr21:36830821 CA
CA
 C
C
 183 a0001c0001t0001g0006
a0001c0001t0001g0017
a0001c0001t0001g0024
others(180): Show 
a0001c0001t0001g0006
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0227
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0012g0234
a0001c0001t0013g0231
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0026g0250
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0007g0210
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0224
a0001c0004t0067g0067
a0001c0008t0008g0001
a0001c0010t0011g0020
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0058g0214
a0003c0005t0092g0134
a0006c0016t0001g0116
a0009c0009t0012g0196
 183 HG00280.hp1
HG00280.hp2
HG00323.hp2
others(180): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp2
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03669.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp1
HG03927.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp2
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp2
NA18951.hp1
NA18952.hp1
NA18959.hp1
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp2
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-63537delT
c.1893-63537delT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36830821
chr21:36830821 CAA
CAA
 C
C
 42 a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
others(39): Show 
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0027
a0001c0001t0002g0160
a0001c0001t0002g0174
a0001c0001t0002g0232
a0001c0001t0003g0175
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0045
a0001c0001t0005g0021
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0006g0096
a0001c0001t0006g0256
a0001c0001t0007g0194
a0001c0001t0008g0078
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0013g0240
a0001c0001t0018g0189
a0001c0001t0020g0002
a0001c0001t0024g0191
a0001c0001t0026g0251
a0001c0001t0051g0168
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0109g0119
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0018t0004g0060
a0004c0019t0112g0258
a0008c0012t0035g0069
 42 HG00323.hp1
HG01070.hp1
HG01109.hp2
others(39): Show 
HG00323.hp1
HG01070.hp1
HG01109.hp2
HG01168.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp2
HG01952.hp2
HG01981.hp2
HG02129.hp1
HG02257.hp1
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02895.hp1
HG02896.hp2
HG02965.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03669.hp2
HG03710.hp2
HG03831.hp2
HG03927.hp1
HG04115.hp2
HG04228.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp2
NA18959.hp2
NA18971.hp2
NA18979.hp1
NA18984.hp1
NA19004.hp1
NA19009.hp2
NA20805.hp2
 intron_variant MODIFIER c.1893-63538_1893-63
others(8): Show 
c.1893-63538_1893-63537delTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36830821
chr21:36830821 CAAA
CAAA
 C
C
 5 a0001c0001t0013g0223
a0001c0001t0024g0211
a0001c0001t0030g0257
others(2): Show 
a0001c0001t0013g0223
a0001c0001t0024g0211
a0001c0001t0030g0257
a0001c0004t0017g0219
a0001c0004t0017g0220
 5 HG02615.hp2
HG02896.hp1
HG02897.hp2
others(2): Show 
HG02615.hp2
HG02896.hp1
HG02897.hp2
HG03098.hp1
HG03225.hp2
 intron_variant MODIFIER c.1893-63539_1893-63
others(9): Show 
c.1893-63539_1893-63537delTTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36830821
chr21:36830980 C
C
 T
T
 4 a0001c0001t0028g0192
a0001c0001t0044g0161
a0001c0001t0071g0089
others(1): Show 
a0001c0001t0028g0192
a0001c0001t0044g0161
a0001c0001t0071g0089
a0001c0004t0017g0224
 4 HG02486.hp2
HG02647.hp2
HG03139.hp1
others(1): Show 
HG02486.hp2
HG02647.hp2
HG03139.hp1
NA19240.hp2
 intron_variant MODIFIER c.1893-63695G>A
c.1893-63695G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36830980
chr21:36831079 T
T
 G
G
 3 a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0006g0012
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0006g0012
 3 HG02523.hp1
NA19068.hp1
NA19074.hp1
HG02523.hp1
NA19068.hp1
NA19074.hp1
 intron_variant MODIFIER c.1893-63794A>C
c.1893-63794A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36831079
chr21:36831092 C
C
 T
T
 255 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(252): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 255 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(252): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1893-63807G>A
c.1893-63807G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36831092
chr21:36831234 T
T
 A
A
 4 a0001c0001t0006g0029
a0001c0001t0034g0030
a0001c0001t0034g0070
others(1): Show 
a0001c0001t0006g0029
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0077g0039
 4 HG00738.hp2
HG01099.hp1
HG03239.hp2
others(1): Show 
HG00738.hp2
HG01099.hp1
HG03239.hp2
HG04115.hp1
 intron_variant MODIFIER c.1893-63949A>T
c.1893-63949A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36831234
chr21:36831274 G
G
 A
A
 6 a0001c0001t0002g0193
a0001c0001t0029g0051
a0001c0001t0029g0136
others(3): Show 
a0001c0001t0002g0193
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0038g0054
a0001c0001t0105g0053
a0001c0001t0107g0050
 6 HG01884.hp2
HG02572.hp1
HG02809.hp1
others(3): Show 
HG01884.hp2
HG02572.hp1
HG02809.hp1
HG02818.hp2
HG02922.hp2
HG03453.hp2
 intron_variant MODIFIER c.1893-63989C>T
c.1893-63989C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36831274
chr21:36831340 G
G
 C
C
 1 a0001c0006t0023g0222
a0001c0006t0023g0222
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.1893-64055C>G
c.1893-64055C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36831340
chr21:36831371 G
G
 A
A
 22 a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0002g0232
others(19): Show 
a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0005g0115
a0001c0001t0008g0078
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0016g0098
a0001c0001t0020g0002
a0001c0001t0051g0168
a0001c0001t0057g0225
a0001c0001t0109g0119
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0018t0004g0060
 22 HG02080.hp1
HG02129.hp1
HG02523.hp2
others(19): Show 
HG02080.hp1
HG02129.hp1
HG02523.hp2
HG02622.hp1
HG02896.hp2
HG02965.hp2
HG03130.hp1
HG03710.hp2
HG03927.hp1
HG04115.hp2
HG04228.hp2
NA18939.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp2
NA18952.hp2
NA18959.hp2
NA18971.hp2
NA18979.hp1
NA19004.hp1
NA19009.hp2
NA19084.hp1
 intron_variant MODIFIER c.1893-64086C>T
c.1893-64086C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36831371
chr21:36831380 T
T
 C
C
 12 a0001c0001t0006g0256
a0001c0001t0018g0189
a0001c0001t0022g0187
others(9): Show 
a0001c0001t0006g0256
a0001c0001t0018g0189
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0030g0257
a0001c0001t0069g0255
a0001c0001t0093g0133
a0001c0004t0017g0219
a0001c0004t0017g0220
a0002c0002t0040g0242
a0002c0002t0064g0243
 12 HG01099.hp2
HG01884.hp1
HG01952.hp2
others(9): Show 
HG01099.hp2
HG01884.hp1
HG01952.hp2
HG02559.hp2
HG02615.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03225.hp2
 intron_variant MODIFIER c.1893-64095A>G
c.1893-64095A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36831380
chr21:36831643 A
A
 G
G
 1 a0001c0001t0004g0045
a0001c0001t0004g0045
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.1893-64358T>C
c.1893-64358T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36831643
chr21:36831790 T
T
 A
A
 3 a0001c0001t0018g0176
a0002c0002t0043g0152
a0005c0011t0033g0139
a0001c0001t0018g0176
a0002c0002t0043g0152
a0005c0011t0033g0139
 3 HG02886.hp2
HG02976.hp2
HG03471.hp1
HG02886.hp2
HG02976.hp2
HG03471.hp1
 intron_variant MODIFIER c.1893-64505A>T
c.1893-64505A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36831790
chr21:36831824 T
T
 A
A
 63 a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
others(60): Show 
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0004g0015
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0019g0247
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0030g0048
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0038g0102
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0061g0163
a0001c0001t0075g0049
a0001c0001t0081g0016
a0001c0001t0090g0005
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0002c0002t0018g0153
a0003c0005t0092g0134
a0008c0012t0035g0069
a0009c0009t0012g0196
 63 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(60): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01496.hp1
HG01975.hp1
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02300.hp2
HG02572.hp2
HG02615.hp1
HG02647.hp1
HG02683.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp1
HG03209.hp1
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03927.hp2
HG04204.hp2
NA18522.hp2
NA18940.hp1
NA18942.hp1
NA18944.hp1
NA18950.hp1
NA18951.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp1
NA18975.hp1
NA18984.hp1
NA18993.hp2
NA19030.hp2
NA19043.hp1
NA19068.hp2
NA19240.hp1
NA20805.hp2
 intron_variant MODIFIER c.1893-64539A>T
c.1893-64539A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36831824
chr21:36831858 G
G
 T
T
 11 a0001c0001t0006g0256
a0001c0001t0018g0189
a0001c0001t0022g0187
others(8): Show 
a0001c0001t0006g0256
a0001c0001t0018g0189
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0030g0257
a0001c0001t0069g0255
a0001c0004t0017g0219
a0001c0004t0017g0220
a0002c0002t0040g0242
a0002c0002t0064g0243
 11 HG01884.hp1
HG01952.hp2
HG02559.hp2
others(8): Show 
HG01884.hp1
HG01952.hp2
HG02559.hp2
HG02615.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03225.hp2
 intron_variant MODIFIER c.1893-64573C>A
c.1893-64573C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36831858
chr21:36832294 A
A
 C
C
 73 a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
others(70): Show 
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0019g0247
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0030g0048
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0037g0254
a0001c0001t0038g0102
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0061g0163
a0001c0001t0075g0049
a0001c0001t0081g0016
a0001c0001t0090g0005
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0017t0108g0082
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0062g0145
a0003c0005t0092g0134
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 73 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(70): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01496.hp1
HG01975.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02572.hp2
HG02615.hp1
HG02647.hp1
HG02683.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp1
HG02976.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03927.hp2
HG04204.hp2
NA18522.hp2
NA18940.hp1
NA18942.hp1
NA18944.hp1
NA18950.hp1
NA18951.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18975.hp1
NA18984.hp1
NA18993.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19240.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+64566T>G
c.1892+64566T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36832294
chr21:36832484 C
C
 T
T
 1 a0001c0001t0003g0173
a0001c0001t0003g0173
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.1892+64376G>A
c.1892+64376G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36832484
chr21:36832545 A
A
 T
T
 10 a0001c0001t0006g0256
a0001c0001t0018g0189
a0001c0001t0022g0187
others(7): Show 
a0001c0001t0006g0256
a0001c0001t0018g0189
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0030g0257
a0001c0001t0069g0255
a0001c0001t0093g0133
a0001c0004t0017g0219
a0001c0004t0017g0220
 10 HG01099.hp2
HG01884.hp1
HG01952.hp2
others(7): Show 
HG01099.hp2
HG01884.hp1
HG01952.hp2
HG02615.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG03098.hp2
HG03130.hp2
HG03225.hp2
 intron_variant MODIFIER c.1892+64315T>A
c.1892+64315T>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36832545
chr21:36832697 CCTAA
CCTAA
 C
C
 6 a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0028g0167
others(3): Show 
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0028g0167
a0001c0001t0031g0057
a0001c0004t0042g0209
a0001c0004t0072g0248
 6 HG00735.hp1
HG01109.hp1
HG02717.hp1
others(3): Show 
HG00735.hp1
HG01109.hp1
HG02717.hp1
HG03225.hp1
HG03471.hp2
NA19030.hp1
 intron_variant MODIFIER c.1892+64159_1892+64
others(10): Show 
c.1892+64159_1892+64162delTTAG
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36832697
chr21:36832835 C
C
 G
G
 1 a0001c0013t0022g0177
a0001c0013t0022g0177
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.1892+64025G>C
c.1892+64025G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36832835
chr21:36833001 T
T
 A
A
 6 a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0028g0167
others(3): Show 
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0028g0167
a0001c0001t0031g0057
a0001c0004t0042g0209
a0001c0004t0072g0248
 6 HG00735.hp1
HG01109.hp1
HG02717.hp1
others(3): Show 
HG00735.hp1
HG01109.hp1
HG02717.hp1
HG03225.hp1
HG03471.hp2
NA19030.hp1
 intron_variant MODIFIER c.1892+63859A>T
c.1892+63859A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36833001
chr21:36833039 AT
AT
 A
A
 18 a0001c0001t0006g0256
a0001c0001t0018g0189
a0001c0001t0019g0061
others(15): Show 
a0001c0001t0006g0256
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0028g0167
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0069g0255
a0001c0001t0093g0133
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0042g0209
a0001c0004t0072g0248
a0002c0002t0040g0242
a0002c0002t0064g0243
 18 HG00735.hp1
HG01099.hp2
HG01109.hp1
others(15): Show 
HG00735.hp1
HG01099.hp2
HG01109.hp1
HG01884.hp1
HG01952.hp2
HG02559.hp2
HG02615.hp2
HG02717.hp1
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp2
NA19030.hp1
 intron_variant MODIFIER c.1892+63820delA
c.1892+63820delA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36833039
chr21:36833154 G
G
 A
A
 32 a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
others(29): Show 
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0004g0015
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0009g0178
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0030g0048
a0001c0001t0038g0102
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0061g0163
a0001c0001t0075g0049
a0001c0001t0081g0016
a0001c0001t0090g0005
a0001c0001t0098g0035
a0001c0010t0011g0020
 32 HG00280.hp2
HG00323.hp2
HG00741.hp2
others(29): Show 
HG00280.hp2
HG00323.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG01243.hp1
HG01496.hp1
HG02109.hp1
HG02300.hp2
HG02572.hp2
HG02683.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03927.hp2
HG04204.hp2
NA18944.hp1
NA18951.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18975.hp1
NA18993.hp2
NA19068.hp2
 intron_variant MODIFIER c.1892+63706C>T
c.1892+63706C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36833154
chr21:36833188 A
A
 AT
AT
 22 a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0002g0232
others(19): Show 
a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0005g0115
a0001c0001t0008g0078
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0016g0098
a0001c0001t0020g0002
a0001c0001t0051g0168
a0001c0001t0057g0225
a0001c0001t0109g0119
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0018t0004g0060
 22 HG02080.hp1
HG02129.hp1
HG02523.hp2
others(19): Show 
HG02080.hp1
HG02129.hp1
HG02523.hp2
HG02622.hp1
HG02896.hp2
HG02965.hp2
HG03130.hp1
HG03710.hp2
HG03927.hp1
HG04115.hp2
HG04228.hp2
NA18939.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp2
NA18952.hp2
NA18959.hp2
NA18971.hp2
NA18979.hp1
NA19004.hp1
NA19009.hp2
NA19084.hp1
 intron_variant MODIFIER c.1892+63671dupA
c.1892+63671dupA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36833188
chr21:36833307 G
G
 A
A
 118 a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0001g0128
others(115): Show 
a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0098
a0001c0001t0018g0176
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0073g0246
a0001c0001t0075g0049
a0001c0001t0081g0016
a0001c0001t0085g0110
a0001c0001t0090g0005
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0043g0152
a0002c0002t0062g0145
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0092g0134
a0005c0011t0033g0139
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 118 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(115): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01496.hp1
HG01884.hp2
HG01891.hp1
HG01975.hp1
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02622.hp1
HG02647.hp1
HG02683.hp2
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18944.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp2
NA18959.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp2
NA18975.hp1
NA18979.hp1
NA18984.hp1
NA18993.hp2
NA19004.hp1
NA19009.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19084.hp1
NA19240.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+63553C>T
c.1892+63553C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36833307
chr21:36833486 G
G
 A
A
 1 a0001c0004t0072g0248
a0001c0004t0072g0248
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.1892+63374C>T
c.1892+63374C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36833486
chr21:36833500 G
G
 T
T
 1 a0001c0001t0100g0073
a0001c0001t0100g0073
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.1892+63360C>A
c.1892+63360C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36833500
chr21:36833592 A
A
 AATT
AATT
 15 a0001c0001t0002g0174
a0001c0001t0003g0226
a0001c0001t0004g0045
others(12): Show 
a0001c0001t0002g0174
a0001c0001t0003g0226
a0001c0001t0004g0045
a0001c0001t0005g0021
a0001c0001t0006g0132
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0004t0068g0088
a0001c0007t0007g0200
a0001c0007t0012g0207
a0008c0012t0035g0069
 15 HG00323.hp1
HG01106.hp1
HG01109.hp2
others(12): Show 
HG00323.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01256.hp2
HG01258.hp2
HG02257.hp1
HG02486.hp1
HG02976.hp1
HG03195.hp2
HG03669.hp1
NA18940.hp1
NA18950.hp1
NA18984.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+63267_1892+63
others(9): Show 
c.1892+63267_1892+63268insAAT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36833592
chr21:36833592 A
A
 AATTAT
AATTAT
 10 a0001c0001t0005g0056
a0001c0001t0026g0250
a0001c0001t0026g0251
others(7): Show 
a0001c0001t0005g0056
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0037g0254
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0062g0145
 10 HG01257.hp2
HG01258.hp1
HG02109.hp2
others(7): Show 
HG01257.hp2
HG01258.hp1
HG02109.hp2
HG02145.hp1
HG02280.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp2
NA18942.hp1
NA19043.hp2
 intron_variant MODIFIER c.1892+63267_1892+63
others(11): Show 
c.1892+63267_1892+63268insATAAT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36833592
chr21:36833592 A
A
 AATTATAT
AATTATAT
 39 a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
others(36): Show 
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0004g0015
a0001c0001t0005g0052
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0009g0178
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0019g0247
a0001c0001t0030g0048
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0038g0102
a0001c0001t0075g0049
a0001c0001t0090g0005
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0010t0011g0020
a0002c0002t0018g0153
a0003c0005t0092g0134
a0007c0014t0070g0131
 39 HG00280.hp2
HG00323.hp2
HG00741.hp1
others(36): Show 
HG00280.hp2
HG00323.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01496.hp1
HG01975.hp1
HG02109.hp1
HG02145.hp2
HG02572.hp2
HG02615.hp1
HG02683.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp1
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03540.hp1
HG03669.hp2
HG03831.hp1
HG04204.hp2
NA18522.hp2
NA18944.hp1
NA18951.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18975.hp1
NA18993.hp2
NA19030.hp2
NA19043.hp1
NA19240.hp1
 intron_variant MODIFIER c.1892+63267_1892+63
others(13): Show 
c.1892+63267_1892+63268insATATAAT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36833592
chr21:36833592 A
A
 AATTATAT
others(2): Show 
AATTATATAT
 7 a0001c0001t0002g0183
a0001c0001t0032g0081
a0001c0001t0053g0186
others(4): Show 
a0001c0001t0002g0183
a0001c0001t0032g0081
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0061g0163
a0001c0001t0081g0016
a0009c0009t0012g0196
 7 HG02257.hp2
HG02300.hp2
HG02647.hp1
others(4): Show 
HG02257.hp2
HG02300.hp2
HG02647.hp1
HG03492.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp2
 intron_variant MODIFIER c.1892+63267_1892+63
others(15): Show 
c.1892+63267_1892+63268insATATATAAT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36833592
chr21:36833593 T
T
 A
A
 71 a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
others(68): Show 
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0226
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0019g0247
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0030g0048
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0037g0254
a0001c0001t0038g0102
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0061g0163
a0001c0001t0075g0049
a0001c0001t0081g0016
a0001c0001t0090g0005
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0017t0108g0082
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0062g0145
a0003c0005t0092g0134
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 71 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(68): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01496.hp1
HG01975.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02572.hp2
HG02615.hp1
HG02647.hp1
HG02683.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp1
HG02976.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03927.hp2
HG04204.hp2
NA18522.hp2
NA18940.hp1
NA18942.hp1
NA18944.hp1
NA18950.hp1
NA18951.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18975.hp1
NA18984.hp1
NA18993.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+63267A>T
c.1892+63267A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36833593
chr21:36833593 T
T
 TAATATAT
others(3): Show 
TAATATATATA
 1 a0001c0001t0019g0101
a0001c0001t0019g0101
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.1892+63266_1892+63
others(16): Show 
c.1892+63266_1892+63267insTATATATATT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36833593
chr21:36833593 T
T
 TTA
TTA
 21 a0001c0001t0006g0256
a0001c0001t0010g0213
a0001c0001t0015g0141
others(18): Show 
a0001c0001t0006g0256
a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0018g0189
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0030g0257
a0001c0001t0063g0208
a0001c0001t0069g0255
a0001c0001t0093g0133
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0003c0005t0002g0195
a0003c0005t0027g0218
 21 HG01099.hp2
HG01952.hp2
HG02129.hp1
others(18): Show 
HG01099.hp2
HG01952.hp2
HG02129.hp1
HG02280.hp1
HG02615.hp2
HG02717.hp2
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02896.hp1
HG02897.hp2
HG02965.hp1
HG03098.hp2
HG03130.hp2
HG03225.hp2
HG03453.hp1
HG03579.hp1
NA18947.hp2
NA18971.hp2
NA20129.hp1
 intron_variant MODIFIER c.1892+63265_1892+63
others(8): Show 
c.1892+63265_1892+63266dupTA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36833593
chr21:36833593 T
T
 TTATATA
TTATATA
 2 a0001c0001t0003g0184
a0001c0001t0056g0198
a0001c0001t0003g0184
a0001c0001t0056g0198
 2 HG03209.hp1
NA19068.hp2
HG03209.hp1
NA19068.hp2
 intron_variant MODIFIER c.1892+63261_1892+63
others(12): Show 
c.1892+63261_1892+63266dupTATATA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36833593
chr21:36833593 T
T
 TTATATAT
others(7): Show 
TTATATATATATATA
 1 a0001c0001t0031g0057
a0001c0001t0031g0057
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.1892+63253_1892+63
others(20): Show 
c.1892+63253_1892+63266dupTATATATATATATA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36833593
chr21:36833593 T
T
 TTATATAT
others(9): Show 
TTATATATATATATATA
 1 a0001c0001t0019g0061
a0001c0001t0019g0061
 1 HG01109.hp1
HG01109.hp1
 intron_variant MODIFIER c.1892+63251_1892+63
others(22): Show 
c.1892+63251_1892+63266dupTATATATATATATATA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36833593
chr21:36833593 T
T
 TTATATAT
others(19): Show 
TTATATATATATATATATATATATATA
 2 a0001c0001t0028g0167
a0001c0004t0072g0248
a0001c0001t0028g0167
a0001c0004t0072g0248
 2 HG03225.hp1
HG03471.hp2
HG03225.hp1
HG03471.hp2
 intron_variant MODIFIER c.1892+63266_1892+63
others(32): Show 
c.1892+63266_1892+63267insTATATATATATATATATATATATA
TA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36833593
chr21:36833769 T
T
 C
C
 1 a0007c0014t0070g0131
a0007c0014t0070g0131
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.1892+63091A>G
c.1892+63091A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36833769
chr21:36833774 A
A
 T
T
 136 a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0001g0128
others(133): Show 
a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0098
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0069g0255
a0001c0001t0073g0246
a0001c0001t0075g0049
a0001c0001t0081g0016
a0001c0001t0085g0110
a0001c0001t0090g0005
a0001c0001t0093g0133
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0040g0242
a0002c0002t0043g0152
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0092g0134
a0005c0011t0033g0139
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 136 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(133): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
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.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18944.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp2
NA18959.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp2
NA18975.hp1
NA18979.hp1
NA18984.hp1
NA18993.hp2
NA19004.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19084.hp1
NA19240.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+63086T>A
c.1892+63086T>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36833774
chr21:36833794 C
C
 T
T
 2 a0001c0001t0003g0175
a0001c0010t0011g0020
a0001c0001t0003g0175
a0001c0010t0011g0020
 2 NA18951.hp2
NA18970.hp1
NA18951.hp2
NA18970.hp1
 intron_variant MODIFIER c.1892+63066G>A
c.1892+63066G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36833794
chr21:36833855 C
C
 A
A
 10 a0001c0001t0006g0256
a0001c0001t0018g0189
a0001c0001t0022g0187
others(7): Show 
a0001c0001t0006g0256
a0001c0001t0018g0189
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0030g0257
a0001c0001t0069g0255
a0001c0001t0093g0133
a0001c0004t0017g0219
a0001c0004t0017g0220
 10 HG01099.hp2
HG01884.hp1
HG01952.hp2
others(7): Show 
HG01099.hp2
HG01884.hp1
HG01952.hp2
HG02615.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG03098.hp2
HG03130.hp2
HG03225.hp2
 intron_variant MODIFIER c.1892+63005G>T
c.1892+63005G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36833855
chr21:36833866 C
C
 T
T
 5 a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0001t0085g0110
others(2): Show 
a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0001t0085g0110
a0001c0004t0067g0067
a0002c0002t0025g0149
 5 HG01891.hp1
HG02559.hp1
HG03516.hp1
others(2): Show 
HG01891.hp1
HG02559.hp1
HG03516.hp1
HG06807.hp1
HG06807.hp2
 intron_variant MODIFIER c.1892+62994G>A
c.1892+62994G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36833866
chr21:36834039 C
C
 T
T
 1 a0001c0001t0019g0101
a0001c0001t0019g0101
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.1892+62821G>A
c.1892+62821G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36834039
chr21:36834047 C
C
 T
T
 1 a0001c0001t0028g0167
a0001c0001t0028g0167
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.1892+62813G>A
c.1892+62813G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36834047
chr21:36834119 C
C
 T
T
 1 a0001c0001t0110g0023
a0001c0001t0110g0023
 1 NA18968.hp1
NA18968.hp1
 intron_variant MODIFIER c.1892+62741G>A
c.1892+62741G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36834119
chr21:36834120 G
G
 A
A
 6 a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0028g0167
others(3): Show 
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0028g0167
a0001c0001t0031g0057
a0001c0004t0042g0209
a0001c0004t0072g0248
 6 HG00735.hp1
HG01109.hp1
HG02717.hp1
others(3): Show 
HG00735.hp1
HG01109.hp1
HG02717.hp1
HG03225.hp1
HG03471.hp2
NA19030.hp1
 intron_variant MODIFIER c.1892+62740C>T
c.1892+62740C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36834120
chr21:36834155 C
C
 A
A
 2 a0002c0002t0040g0242
a0002c0002t0064g0243
a0002c0002t0040g0242
a0002c0002t0064g0243
 2 HG02559.hp2
HG03041.hp1
HG02559.hp2
HG03041.hp1
 intron_variant MODIFIER c.1892+62705G>T
c.1892+62705G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36834155
chr21:36834218 T
T
 A
A
 33 a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0002g0193
others(30): Show 
a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0005g0115
a0001c0001t0008g0078
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0016g0098
a0001c0001t0020g0002
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0031g0245
a0001c0001t0038g0054
a0001c0001t0051g0168
a0001c0001t0057g0225
a0001c0001t0073g0246
a0001c0001t0085g0110
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0067g0067
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0018t0004g0060
a0002c0002t0025g0149
 33 HG01884.hp2
HG01891.hp1
HG02080.hp1
others(30): Show 
HG01884.hp2
HG01891.hp1
HG02080.hp1
HG02129.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02922.hp2
HG02965.hp2
HG03130.hp1
HG03453.hp2
HG03516.hp1
HG03710.hp2
HG03927.hp1
HG04115.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18939.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp2
NA18952.hp2
NA18959.hp2
NA18971.hp2
NA18979.hp1
NA19004.hp1
NA19009.hp2
NA19084.hp1
 intron_variant MODIFIER c.1892+62642A>T
c.1892+62642A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36834218
chr21:36834291 C
C
 A
A
 1 a0001c0001t0028g0167
a0001c0001t0028g0167
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.1892+62569G>T
c.1892+62569G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36834291
chr21:36834340 T
T
 C
C
 45 a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
others(42): Show 
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0004g0015
a0001c0001t0005g0052
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0009g0178
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0019g0247
a0001c0001t0030g0048
a0001c0001t0033g0104
a0001c0001t0038g0102
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0061g0163
a0001c0001t0075g0049
a0001c0001t0081g0016
a0001c0001t0090g0005
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0010t0011g0020
a0002c0002t0018g0153
a0003c0005t0092g0134
a0009c0009t0012g0196
 45 HG00280.hp2
HG00323.hp2
HG00741.hp2
others(42): Show 
HG00280.hp2
HG00323.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01496.hp1
HG01975.hp1
HG02109.hp1
HG02300.hp2
HG02572.hp2
HG02615.hp1
HG02647.hp1
HG02683.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp1
HG03209.hp1
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03927.hp2
HG04204.hp2
NA18522.hp2
NA18944.hp1
NA18951.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18975.hp1
NA18993.hp2
NA19030.hp2
NA19043.hp1
NA19068.hp2
NA19240.hp1
 intron_variant MODIFIER c.1892+62520A>G
c.1892+62520A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36834340
chr21:36834426 G
G
 T
T
 6 a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0028g0167
others(3): Show 
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0028g0167
a0001c0001t0031g0057
a0001c0004t0042g0209
a0001c0004t0072g0248
 6 HG00735.hp1
HG01109.hp1
HG02717.hp1
others(3): Show 
HG00735.hp1
HG01109.hp1
HG02717.hp1
HG03225.hp1
HG03471.hp2
NA19030.hp1
 intron_variant MODIFIER c.1892+62434C>A
c.1892+62434C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36834426
chr21:36834487 C
C
 T
T
 4 a0001c0001t0004g0015
a0001c0001t0030g0048
a0001c0001t0038g0102
others(1): Show 
a0001c0001t0004g0015
a0001c0001t0030g0048
a0001c0001t0038g0102
a0001c0001t0075g0049
 4 HG00741.hp2
HG01243.hp1
HG02109.hp1
others(1): Show 
HG00741.hp2
HG01243.hp1
HG02109.hp1
HG02572.hp2
 intron_variant MODIFIER c.1892+62373G>A
c.1892+62373G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36834487
chr21:36834521 C
C
 T
T
 1 a0007c0014t0070g0131
a0007c0014t0070g0131
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.1892+62339G>A
c.1892+62339G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36834521
chr21:36834564 C
C
 CT
CT
 25 a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0002g0232
others(22): Show 
a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0005g0115
a0001c0001t0008g0078
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0016g0098
a0001c0001t0020g0002
a0001c0001t0031g0245
a0001c0001t0051g0168
a0001c0001t0057g0225
a0001c0001t0073g0246
a0001c0001t0085g0110
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0067g0067
a0001c0013t0022g0177
a0001c0015t0052g0239
a0002c0002t0025g0149
 25 HG01891.hp1
HG02080.hp1
HG02129.hp1
others(22): Show 
HG01891.hp1
HG02080.hp1
HG02129.hp1
HG02523.hp2
HG02559.hp1
HG02896.hp2
HG03130.hp1
HG03516.hp1
HG03710.hp2
HG03927.hp1
HG04115.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18939.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp2
NA18952.hp2
NA18959.hp2
NA18971.hp2
NA18979.hp1
NA19004.hp1
NA19009.hp2
NA19084.hp1
 intron_variant MODIFIER c.1892+62295dupA
c.1892+62295dupA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36834564
chr21:36834579 C
C
 T
T
 32 a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
others(29): Show 
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0004g0015
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0009g0178
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0030g0048
a0001c0001t0038g0102
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0061g0163
a0001c0001t0075g0049
a0001c0001t0081g0016
a0001c0001t0090g0005
a0001c0001t0098g0035
a0001c0010t0011g0020
 32 HG00280.hp2
HG00323.hp2
HG00741.hp2
others(29): Show 
HG00280.hp2
HG00323.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG01243.hp1
HG01496.hp1
HG02109.hp1
HG02300.hp2
HG02572.hp2
HG02683.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03927.hp2
HG04204.hp2
NA18944.hp1
NA18951.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18975.hp1
NA18993.hp2
NA19068.hp2
 intron_variant MODIFIER c.1892+62281G>A
c.1892+62281G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36834579
chr21:36834803 C
C
 T
T
 3 a0001c0001t0018g0176
a0002c0002t0043g0152
a0005c0011t0033g0139
a0001c0001t0018g0176
a0002c0002t0043g0152
a0005c0011t0033g0139
 3 HG02886.hp2
HG02976.hp2
HG03471.hp1
HG02886.hp2
HG02976.hp2
HG03471.hp1
 intron_variant MODIFIER c.1892+62057G>A
c.1892+62057G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36834803
chr21:36834817 G
G
 A
A
 2 a0002c0002t0040g0242
a0002c0002t0064g0243
a0002c0002t0040g0242
a0002c0002t0064g0243
 2 HG02559.hp2
HG03041.hp1
HG02559.hp2
HG03041.hp1
 intron_variant MODIFIER c.1892+62043C>T
c.1892+62043C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36834817
chr21:36834849 T
T
 C
C
 10 a0001c0001t0006g0256
a0001c0001t0018g0189
a0001c0001t0022g0187
others(7): Show 
a0001c0001t0006g0256
a0001c0001t0018g0189
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0030g0257
a0001c0001t0069g0255
a0001c0001t0093g0133
a0001c0004t0017g0219
a0001c0004t0017g0220
 10 HG01099.hp2
HG01884.hp1
HG01952.hp2
others(7): Show 
HG01099.hp2
HG01884.hp1
HG01952.hp2
HG02615.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG03098.hp2
HG03130.hp2
HG03225.hp2
 intron_variant MODIFIER c.1892+62011A>G
c.1892+62011A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36834849
chr21:36834973 T
T
 C
C
 233 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(230): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0029
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0075g0049
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0103g0100
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 233 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(230): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp2
HG02040.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18945.hp1
NA18945.hp2
NA18947.hp2
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1892+61887A>G
c.1892+61887A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36834973
chr21:36835051 G
G
 C
C
 10 a0001c0001t0006g0256
a0001c0001t0018g0189
a0001c0001t0022g0187
others(7): Show 
a0001c0001t0006g0256
a0001c0001t0018g0189
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0030g0257
a0001c0001t0069g0255
a0001c0001t0093g0133
a0001c0004t0017g0219
a0001c0004t0017g0220
 10 HG01099.hp2
HG01884.hp1
HG01952.hp2
others(7): Show 
HG01099.hp2
HG01884.hp1
HG01952.hp2
HG02615.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG03098.hp2
HG03130.hp2
HG03225.hp2
 intron_variant MODIFIER c.1892+61809C>G
c.1892+61809C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36835051
chr21:36835084 G
G
 A
A
 62 a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
others(59): Show 
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0004g0015
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0019g0247
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0030g0048
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0038g0102
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0061g0163
a0001c0001t0075g0049
a0001c0001t0081g0016
a0001c0001t0090g0005
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0002c0002t0018g0153
a0003c0005t0092g0134
a0008c0012t0035g0069
a0009c0009t0012g0196
 62 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(59): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01496.hp1
HG01975.hp1
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02300.hp2
HG02572.hp2
HG02615.hp1
HG02647.hp1
HG02683.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp1
HG03209.hp1
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03927.hp2
HG04204.hp2
NA18522.hp2
NA18940.hp1
NA18942.hp1
NA18944.hp1
NA18950.hp1
NA18951.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18975.hp1
NA18984.hp1
NA18993.hp2
NA19030.hp2
NA19043.hp1
NA19068.hp2
NA19240.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+61776C>T
c.1892+61776C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36835084
chr21:36835195 A
A
 C
C
 3 a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
 3 HG02145.hp1
HG03195.hp1
NA19043.hp2
HG02145.hp1
HG03195.hp1
NA19043.hp2
 intron_variant MODIFIER c.1892+61665T>G
c.1892+61665T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36835195
chr21:36835280 C
C
 A
A
 5 a0001c0001t0001g0092
a0001c0001t0011g0118
a0001c0001t0016g0091
others(2): Show 
a0001c0001t0001g0092
a0001c0001t0011g0118
a0001c0001t0016g0091
a0001c0001t0076g0090
a0001c0001t0080g0093
 5 HG00673.hp1
NA18947.hp1
NA18979.hp2
others(2): Show 
HG00673.hp1
NA18947.hp1
NA18979.hp2
NA19084.hp2
NA19088.hp2
 intron_variant MODIFIER c.1892+61580G>T
c.1892+61580G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36835280
chr21:36835710 C
C
 T
T
 10 a0001c0001t0006g0256
a0001c0001t0018g0189
a0001c0001t0022g0187
others(7): Show 
a0001c0001t0006g0256
a0001c0001t0018g0189
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0030g0257
a0001c0001t0069g0255
a0001c0001t0093g0133
a0001c0004t0017g0219
a0001c0004t0017g0220
 10 HG01099.hp2
HG01884.hp1
HG01952.hp2
others(7): Show 
HG01099.hp2
HG01884.hp1
HG01952.hp2
HG02615.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG03098.hp2
HG03130.hp2
HG03225.hp2
 intron_variant MODIFIER c.1892+61150G>A
c.1892+61150G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36835710
chr21:36835757 T
T
 A
A
 1 a0001c0001t0039g0126
a0001c0001t0039g0126
 1 NA18941.hp2
NA18941.hp2
 intron_variant MODIFIER c.1892+61103A>T
c.1892+61103A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36835757
chr21:36835788 T
T
 C
C
 18 a0001c0001t0006g0256
a0001c0001t0018g0189
a0001c0001t0019g0061
others(15): Show 
a0001c0001t0006g0256
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0028g0167
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0069g0255
a0001c0001t0093g0133
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0042g0209
a0001c0004t0072g0248
a0002c0002t0040g0242
a0002c0002t0064g0243
 18 HG00735.hp1
HG01099.hp2
HG01109.hp1
others(15): Show 
HG00735.hp1
HG01099.hp2
HG01109.hp1
HG01884.hp1
HG01952.hp2
HG02559.hp2
HG02615.hp2
HG02717.hp1
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp2
NA19030.hp1
 intron_variant MODIFIER c.1892+61072A>G
c.1892+61072A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36835788
chr21:36835795 A
A
 T
T
 1 a0001c0001t0007g0194
a0001c0001t0007g0194
 1 HG03831.hp2
HG03831.hp2
 intron_variant MODIFIER c.1892+61065T>A
c.1892+61065T>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36835795
chr21:36835903 C
C
 G
G
 1 a0001c0001t0019g0247
a0001c0001t0019g0247
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.1892+60957G>C
c.1892+60957G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36835903
chr21:36835954 T
T
 C
C
 257 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(254): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 257 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(254): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1892+60906A>G
c.1892+60906A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36835954
chr21:36835977 C
C
 G
G
 73 a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
others(70): Show 
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0019g0247
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0030g0048
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0037g0254
a0001c0001t0038g0102
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0061g0163
a0001c0001t0075g0049
a0001c0001t0081g0016
a0001c0001t0090g0005
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0017t0108g0082
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0062g0145
a0003c0005t0092g0134
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 73 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(70): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01496.hp1
HG01975.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02572.hp2
HG02615.hp1
HG02647.hp1
HG02683.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp1
HG02976.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03927.hp2
HG04204.hp2
NA18522.hp2
NA18940.hp1
NA18942.hp1
NA18944.hp1
NA18950.hp1
NA18951.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18975.hp1
NA18984.hp1
NA18993.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19240.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+60883G>C
c.1892+60883G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36835977
chr21:36836005 G
G
 T
T
 2 a0001c0001t0019g0061
a0001c0001t0031g0057
a0001c0001t0019g0061
a0001c0001t0031g0057
 2 HG01109.hp1
HG02717.hp1
HG01109.hp1
HG02717.hp1
 intron_variant MODIFIER c.1892+60855C>A
c.1892+60855C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36836005
chr21:36836081 C
C
 T
T
 1 a0001c0001t0049g0233
a0001c0001t0049g0233
 1 NA18977.hp2
NA18977.hp2
 intron_variant MODIFIER c.1892+60779G>A
c.1892+60779G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36836081
chr21:36836125 G
G
 GA
GA
 8 a0001c0001t0002g0174
a0001c0001t0003g0226
a0001c0001t0005g0021
others(5): Show 
a0001c0001t0002g0174
a0001c0001t0003g0226
a0001c0001t0005g0021
a0001c0001t0005g0056
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0003t0003g0199
a0008c0012t0035g0069
 8 HG01256.hp2
HG01258.hp2
HG03669.hp1
others(5): Show 
HG01256.hp2
HG01258.hp2
HG03669.hp1
NA18940.hp1
NA18942.hp1
NA18950.hp1
NA18984.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+60734dupT
c.1892+60734dupT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36836125
chr21:36836165 C
C
 T
T
 2 a0002c0002t0040g0242
a0002c0002t0064g0243
a0002c0002t0040g0242
a0002c0002t0064g0243
 2 HG02559.hp2
HG03041.hp1
HG02559.hp2
HG03041.hp1
 intron_variant MODIFIER c.1892+60695G>A
c.1892+60695G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36836165
chr21:36836315 A
A
 AT
AT
 22 a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0002g0232
others(19): Show 
a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0005g0115
a0001c0001t0008g0078
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0016g0098
a0001c0001t0020g0002
a0001c0001t0051g0168
a0001c0001t0057g0225
a0001c0001t0109g0119
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0018t0004g0060
 22 HG02080.hp1
HG02129.hp1
HG02523.hp2
others(19): Show 
HG02080.hp1
HG02129.hp1
HG02523.hp2
HG02622.hp1
HG02896.hp2
HG02965.hp2
HG03130.hp1
HG03710.hp2
HG03927.hp1
HG04115.hp2
HG04228.hp2
NA18939.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp2
NA18952.hp2
NA18959.hp2
NA18971.hp2
NA18979.hp1
NA19004.hp1
NA19009.hp2
NA19084.hp1
 intron_variant MODIFIER c.1892+60544dupA
c.1892+60544dupA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36836315
chr21:36836602 G
G
 C
C
 1 a0001c0001t0016g0106
a0001c0001t0016g0106
 1 NA18945.hp2
NA18945.hp2
 intron_variant MODIFIER c.1892+60258C>G
c.1892+60258C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36836602
chr21:36836792 T
T
 C
C
 2 a0002c0002t0040g0242
a0002c0002t0064g0243
a0002c0002t0040g0242
a0002c0002t0064g0243
 2 HG02559.hp2
HG03041.hp1
HG02559.hp2
HG03041.hp1
 intron_variant MODIFIER c.1892+60068A>G
c.1892+60068A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36836792
chr21:36836912 C
C
 T
T
 1 a0001c0001t0006g0109
a0001c0001t0006g0109
 1 HG01975.hp1
HG01975.hp1
 intron_variant MODIFIER c.1892+59948G>A
c.1892+59948G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36836912
chr21:36836913 G
G
 A
A
 2 a0001c0001t0019g0061
a0001c0001t0031g0057
a0001c0001t0019g0061
a0001c0001t0031g0057
 2 HG01109.hp1
HG02717.hp1
HG01109.hp1
HG02717.hp1
 intron_variant MODIFIER c.1892+59947C>T
c.1892+59947C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36836913
chr21:36836922 C
C
 T
T
 2 a0002c0002t0040g0242
a0002c0002t0064g0243
a0002c0002t0040g0242
a0002c0002t0064g0243
 2 HG02559.hp2
HG03041.hp1
HG02559.hp2
HG03041.hp1
 intron_variant MODIFIER c.1892+59938G>A
c.1892+59938G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36836922
chr21:36837082 C
C
 T
T
 1 a0001c0001t0013g0223
a0001c0001t0013g0223
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.1892+59778G>A
c.1892+59778G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36837082
chr21:36837115 G
G
 A
A
 45 a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0002g0193
others(42): Show 
a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0005g0115
a0001c0001t0008g0078
a0001c0001t0010g0213
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0098
a0001c0001t0018g0176
a0001c0001t0020g0002
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0031g0245
a0001c0001t0038g0054
a0001c0001t0051g0168
a0001c0001t0057g0225
a0001c0001t0063g0208
a0001c0001t0073g0246
a0001c0001t0085g0110
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0018t0004g0060
a0002c0002t0025g0149
a0002c0002t0043g0152
a0003c0005t0002g0195
a0003c0005t0027g0218
a0005c0011t0033g0139
 45 HG01884.hp2
HG01891.hp1
HG02080.hp1
others(42): Show 
HG01884.hp2
HG01891.hp1
HG02080.hp1
HG02129.hp1
HG02280.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp1
HG03579.hp1
HG03710.hp2
HG03927.hp1
HG04115.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18939.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp2
NA18952.hp2
NA18959.hp2
NA18971.hp2
NA18979.hp1
NA19004.hp1
NA19009.hp2
NA19084.hp1
NA20129.hp1
 intron_variant MODIFIER c.1892+59745C>T
c.1892+59745C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36837115
chr21:36837117 A
A
 G
G
 1 a0002c0002t0015g0142
a0002c0002t0015g0142
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.1892+59743T>C
c.1892+59743T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36837117
chr21:36837177 C
C
 T
T
 10 a0001c0001t0006g0256
a0001c0001t0018g0189
a0001c0001t0022g0187
others(7): Show 
a0001c0001t0006g0256
a0001c0001t0018g0189
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0030g0257
a0001c0001t0069g0255
a0001c0001t0093g0133
a0001c0004t0017g0219
a0001c0004t0017g0220
 10 HG01099.hp2
HG01884.hp1
HG01952.hp2
others(7): Show 
HG01099.hp2
HG01884.hp1
HG01952.hp2
HG02615.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG03098.hp2
HG03130.hp2
HG03225.hp2
 intron_variant MODIFIER c.1892+59683G>A
c.1892+59683G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36837177
chr21:36837470 A
A
 C
C
 45 a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0002g0193
others(42): Show 
a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0005g0115
a0001c0001t0008g0078
a0001c0001t0010g0213
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0098
a0001c0001t0018g0176
a0001c0001t0020g0002
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0031g0245
a0001c0001t0038g0054
a0001c0001t0051g0168
a0001c0001t0057g0225
a0001c0001t0063g0208
a0001c0001t0073g0246
a0001c0001t0085g0110
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0018t0004g0060
a0002c0002t0025g0149
a0002c0002t0043g0152
a0003c0005t0002g0195
a0003c0005t0027g0218
a0005c0011t0033g0139
 45 HG01884.hp2
HG01891.hp1
HG02080.hp1
others(42): Show 
HG01884.hp2
HG01891.hp1
HG02080.hp1
HG02129.hp1
HG02280.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp1
HG03579.hp1
HG03710.hp2
HG03927.hp1
HG04115.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18939.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp2
NA18952.hp2
NA18959.hp2
NA18971.hp2
NA18979.hp1
NA19004.hp1
NA19009.hp2
NA19084.hp1
NA20129.hp1
 intron_variant MODIFIER c.1892+59390T>G
c.1892+59390T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36837470
chr21:36837734 C
C
 A
A
 2 a0001c0003t0007g0210
a0001c0003t0050g0206
a0001c0003t0007g0210
a0001c0003t0050g0206
 2 HG01255.hp2
NA20805.hp1
HG01255.hp2
NA20805.hp1
 intron_variant MODIFIER c.1892+59126G>T
c.1892+59126G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36837734
chr21:36837803 G
G
 A
A
 3 a0001c0001t0022g0187
a0001c0001t0069g0255
a0001c0001t0093g0133
a0001c0001t0022g0187
a0001c0001t0069g0255
a0001c0001t0093g0133
 3 HG01099.hp2
HG01884.hp1
HG02809.hp2
HG01099.hp2
HG01884.hp1
HG02809.hp2
 intron_variant MODIFIER c.1892+59057C>T
c.1892+59057C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36837803
chr21:36837812 C
C
 T
T
 45 a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0002g0193
others(42): Show 
a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0005g0115
a0001c0001t0008g0078
a0001c0001t0010g0213
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0098
a0001c0001t0018g0176
a0001c0001t0020g0002
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0031g0245
a0001c0001t0038g0054
a0001c0001t0051g0168
a0001c0001t0057g0225
a0001c0001t0063g0208
a0001c0001t0073g0246
a0001c0001t0085g0110
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0018t0004g0060
a0002c0002t0025g0149
a0002c0002t0043g0152
a0003c0005t0002g0195
a0003c0005t0027g0218
a0005c0011t0033g0139
 45 HG01884.hp2
HG01891.hp1
HG02080.hp1
others(42): Show 
HG01884.hp2
HG01891.hp1
HG02080.hp1
HG02129.hp1
HG02280.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp1
HG03579.hp1
HG03710.hp2
HG03927.hp1
HG04115.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18939.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp2
NA18952.hp2
NA18959.hp2
NA18971.hp2
NA18979.hp1
NA19004.hp1
NA19009.hp2
NA19084.hp1
NA20129.hp1
 intron_variant MODIFIER c.1892+59048G>A
c.1892+59048G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36837812
chr21:36838104 G
G
 T
T
 118 a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0001g0128
others(115): Show 
a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0098
a0001c0001t0018g0176
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0073g0246
a0001c0001t0075g0049
a0001c0001t0081g0016
a0001c0001t0085g0110
a0001c0001t0090g0005
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0043g0152
a0002c0002t0062g0145
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0092g0134
a0005c0011t0033g0139
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 118 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(115): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01496.hp1
HG01884.hp2
HG01891.hp1
HG01975.hp1
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02622.hp1
HG02647.hp1
HG02683.hp2
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18944.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp2
NA18959.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp2
NA18975.hp1
NA18979.hp1
NA18984.hp1
NA18993.hp2
NA19004.hp1
NA19009.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19084.hp1
NA19240.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+58756C>A
c.1892+58756C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36838104
chr21:36838216 C
C
 T
T
 1 a0001c0001t0085g0110
a0001c0001t0085g0110
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.1892+58644G>A
c.1892+58644G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36838216
chr21:36838234 C
C
 T
T
 2 a0001c0001t0001g0040
a0001c0001t0001g0071
a0001c0001t0001g0040
a0001c0001t0001g0071
 2 HG01361.hp1
HG01952.hp1
HG01361.hp1
HG01952.hp1
 intron_variant MODIFIER c.1892+58626G>A
c.1892+58626G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36838234
chr21:36838298 T
T
 TCA
TCA
 17 a0001c0001t0001g0068
a0001c0001t0005g0135
a0001c0001t0006g0256
others(14): Show 
a0001c0001t0001g0068
a0001c0001t0005g0135
a0001c0001t0006g0256
a0001c0001t0018g0189
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0103g0100
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
a0002c0002t0045g0151
a0002c0002t0046g0150
a0003c0005t0092g0134
 17 HG00438.hp1
HG00438.hp2
HG00735.hp1
others(14): Show 
HG00438.hp1
HG00438.hp2
HG00735.hp1
HG01106.hp2
HG01175.hp2
HG01952.hp2
HG02145.hp1
HG02615.hp1
HG02647.hp2
HG03098.hp2
HG03130.hp2
HG03195.hp1
HG03225.hp2
HG03579.hp2
NA18522.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.1892+58560_1892+58
others(8): Show 
c.1892+58560_1892+58561dupTG
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36838298
chr21:36838298 T
T
 TCACA
TCACA
 26 a0001c0001t0002g0174
a0001c0001t0003g0226
a0001c0001t0004g0045
others(23): Show 
a0001c0001t0002g0174
a0001c0001t0003g0226
a0001c0001t0004g0045
a0001c0001t0005g0021
a0001c0001t0005g0056
a0001c0001t0006g0132
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0018g0176
a0001c0001t0022g0187
a0001c0001t0030g0257
a0001c0001t0031g0245
a0001c0001t0069g0255
a0001c0001t0073g0246
a0001c0001t0085g0110
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0004t0067g0067
a0001c0007t0007g0200
a0001c0007t0012g0207
a0002c0002t0025g0149
a0002c0002t0043g0152
a0005c0011t0033g0139
a0008c0012t0035g0069
 26 HG00323.hp1
HG01106.hp1
HG01109.hp2
others(23): Show 
HG00323.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01256.hp2
HG01258.hp2
HG01884.hp1
HG01891.hp1
HG02257.hp1
HG02486.hp1
HG02559.hp1
HG02615.hp2
HG02809.hp2
HG02886.hp2
HG02976.hp1
HG02976.hp2
HG03471.hp1
HG03516.hp1
HG03669.hp1
HG06807.hp1
HG06807.hp2
NA18940.hp1
NA18942.hp1
NA18950.hp1
NA18984.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+58558_1892+58
others(10): Show 
c.1892+58558_1892+58561dupTGTG
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36838298
chr21:36838298 T
T
 TCACACA
TCACACA
 13 a0001c0001t0002g0193
a0001c0001t0010g0213
a0001c0001t0015g0141
others(10): Show 
a0001c0001t0002g0193
a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0028g0167
a0001c0001t0063g0208
a0001c0001t0093g0133
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
 13 HG01099.hp2
HG01884.hp2
HG02280.hp1
others(10): Show 
HG01099.hp2
HG01884.hp2
HG02280.hp1
HG02572.hp1
HG02723.hp2
HG02818.hp1
HG02886.hp1
HG02896.hp1
HG02897.hp2
HG02965.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
 intron_variant MODIFIER c.1892+58556_1892+58
others(12): Show 
c.1892+58556_1892+58561dupTGTGTG
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36838298
chr21:36838298 T
T
 TCACACAC
others(1): Show 
TCACACACA
 27 a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0002g0232
others(24): Show 
a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0228
a0001c0001t0003g0244
a0001c0001t0005g0115
a0001c0001t0008g0078
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0016g0098
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0031g0057
a0001c0001t0051g0168
a0001c0001t0109g0119
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0072g0248
a0001c0013t0022g0177
a0001c0018t0004g0060
a0002c0002t0040g0242
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
 27 HG01109.hp1
HG02080.hp1
HG02129.hp1
others(24): Show 
HG01109.hp1
HG02080.hp1
HG02129.hp1
HG02523.hp2
HG02559.hp2
HG02622.hp1
HG02717.hp1
HG02896.hp2
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03471.hp2
HG03579.hp1
HG03927.hp1
HG04115.hp2
NA18939.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp2
NA18952.hp2
NA18959.hp2
NA18971.hp2
NA19009.hp2
NA19030.hp1
NA19084.hp1
NA20129.hp1
 intron_variant MODIFIER c.1892+58554_1892+58
others(14): Show 
c.1892+58554_1892+58561dupTGTGTGTG
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36838298
chr21:36838298 T
T
 TCACACAC
others(3): Show 
TCACACACACA
 6 a0001c0001t0003g0230
a0001c0001t0020g0002
a0001c0001t0029g0051
others(3): Show 
a0001c0001t0003g0230
a0001c0001t0020g0002
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0038g0054
a0001c0015t0052g0239
 6 HG02809.hp1
HG02818.hp2
HG02922.hp2
others(3): Show 
HG02809.hp1
HG02818.hp2
HG02922.hp2
HG03710.hp2
HG04228.hp2
NA19004.hp1
 intron_variant MODIFIER c.1892+58552_1892+58
others(16): Show 
c.1892+58552_1892+58561dupTGTGTGTGTG
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36838298
chr21:36838298 T
T
 TCACACAC
others(5): Show 
TCACACACACACA
 1 a0001c0001t0057g0225
a0001c0001t0057g0225
 1 NA18979.hp1
NA18979.hp1
 intron_variant MODIFIER c.1892+58550_1892+58
others(18): Show 
c.1892+58550_1892+58561dupTGTGTGTGTGTG
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36838298
chr21:36838298 TCA
TCA
 T
T
 5 a0001c0001t0032g0111
a0001c0001t0037g0254
a0002c0002t0013g0147
others(2): Show 
a0001c0001t0032g0111
a0001c0001t0037g0254
a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0062g0145
 5 HG02109.hp2
HG02145.hp2
HG02280.hp2
others(2): Show 
HG02109.hp2
HG02145.hp2
HG02280.hp2
HG03139.hp2
HG03209.hp2
 intron_variant MODIFIER c.1892+58560_1892+58
others(8): Show 
c.1892+58560_1892+58561delTG
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36838298
chr21:36838328 A
A
 C
C
 1 a0001c0001t0086g0044
a0001c0001t0086g0044
 1 NA18961.hp2
NA18961.hp2
 intron_variant MODIFIER c.1892+58532T>G
c.1892+58532T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36838328
chr21:36838330 C
C
 A
A
 37 a0001c0001t0002g0193
a0001c0001t0004g0138
a0001c0001t0006g0256
others(34): Show 
a0001c0001t0002g0193
a0001c0001t0004g0138
a0001c0001t0006g0256
a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0028g0167
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0038g0054
a0001c0001t0044g0161
a0001c0001t0063g0208
a0001c0001t0069g0255
a0001c0001t0093g0133
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0042g0209
a0001c0004t0072g0248
a0002c0002t0040g0242
a0002c0002t0043g0152
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0005c0011t0033g0139
 37 HG00735.hp1
HG01099.hp2
HG01109.hp1
others(34): Show 
HG00735.hp1
HG01099.hp2
HG01109.hp1
HG01175.hp1
HG01884.hp1
HG01884.hp2
HG01952.hp2
HG02280.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02615.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03579.hp1
NA19030.hp1
NA20129.hp1
 intron_variant MODIFIER c.1892+58530G>T
c.1892+58530G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36838330
chr21:36838332 C
C
 A
A
 3 a0001c0001t0018g0176
a0002c0002t0043g0152
a0005c0011t0033g0139
a0001c0001t0018g0176
a0002c0002t0043g0152
a0005c0011t0033g0139
 3 HG02886.hp2
HG02976.hp2
HG03471.hp1
HG02886.hp2
HG02976.hp2
HG03471.hp1
 intron_variant MODIFIER c.1892+58528G>T
c.1892+58528G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36838332
chr21:36838378 T
T
 C
C
 5 a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0001t0085g0110
others(2): Show 
a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0001t0085g0110
a0001c0004t0067g0067
a0002c0002t0025g0149
 5 HG01891.hp1
HG02559.hp1
HG03516.hp1
others(2): Show 
HG01891.hp1
HG02559.hp1
HG03516.hp1
HG06807.hp1
HG06807.hp2
 intron_variant MODIFIER c.1892+58482A>G
c.1892+58482A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36838378
chr21:36838404 T
T
 C
C
 5 a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0001t0085g0110
others(2): Show 
a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0001t0085g0110
a0001c0004t0067g0067
a0002c0002t0025g0149
 5 HG01891.hp1
HG02559.hp1
HG03516.hp1
others(2): Show 
HG01891.hp1
HG02559.hp1
HG03516.hp1
HG06807.hp1
HG06807.hp2
 intron_variant MODIFIER c.1892+58456A>G
c.1892+58456A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36838404
chr21:36838405 A
A
 T
T
 2 a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0002g0195
a0003c0005t0027g0218
 2 HG03579.hp1
NA20129.hp1
HG03579.hp1
NA20129.hp1
 intron_variant MODIFIER c.1892+58455T>A
c.1892+58455T>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36838405
chr21:36838457 G
G
 A
A
 1 a0001c0004t0072g0248
a0001c0004t0072g0248
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.1892+58403C>T
c.1892+58403C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36838457
chr21:36838629 G
G
 A
A
 2 a0001c0001t0049g0233
a0001c0001t0094g0031
a0001c0001t0049g0233
a0001c0001t0094g0031
 2 NA18941.hp1
NA18977.hp2
NA18941.hp1
NA18977.hp2
 intron_variant MODIFIER c.1892+58231C>T
c.1892+58231C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36838629
chr21:36838708 GA
GA
 G
G
 75 a0001c0001t0001g0066
a0001c0001t0001g0128
a0001c0001t0002g0158
others(72): Show 
a0001c0001t0001g0066
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0019g0247
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0037g0254
a0001c0001t0038g0102
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0061g0163
a0001c0001t0075g0049
a0001c0001t0081g0016
a0001c0001t0090g0005
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0017t0108g0082
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0062g0145
a0003c0005t0092g0134
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 75 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(72): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01496.hp1
HG01975.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02572.hp2
HG02615.hp1
HG02647.hp1
HG02683.hp2
HG02809.hp1
HG02895.hp1
HG02897.hp1
HG02922.hp1
HG02976.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03927.hp2
HG04204.hp2
NA18522.hp2
NA18940.hp1
NA18942.hp1
NA18944.hp1
NA18944.hp2
NA18950.hp1
NA18951.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18975.hp1
NA18984.hp1
NA18993.hp1
NA18993.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19240.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+58151delT
c.1892+58151delT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36838708
chr21:36838745 G
G
 GAC
GAC
 5 a0001c0001t0013g0223
a0001c0001t0037g0254
a0002c0002t0013g0147
others(2): Show 
a0001c0001t0013g0223
a0001c0001t0037g0254
a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0062g0145
 5 HG02109.hp2
HG02280.hp2
HG03098.hp1
others(2): Show 
HG02109.hp2
HG02280.hp2
HG03098.hp1
HG03139.hp2
HG03209.hp2
 intron_variant MODIFIER c.1892+58113_1892+58
others(8): Show 
c.1892+58113_1892+58114dupGT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36838745
chr21:36838791 T
T
 C
C
 62 a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
others(59): Show 
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0004g0015
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0019g0247
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0030g0048
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0038g0102
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0061g0163
a0001c0001t0075g0049
a0001c0001t0081g0016
a0001c0001t0090g0005
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0002c0002t0018g0153
a0003c0005t0092g0134
a0008c0012t0035g0069
a0009c0009t0012g0196
 62 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(59): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01496.hp1
HG01975.hp1
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02300.hp2
HG02572.hp2
HG02615.hp1
HG02647.hp1
HG02683.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp1
HG03209.hp1
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03927.hp2
HG04204.hp2
NA18522.hp2
NA18940.hp1
NA18942.hp1
NA18944.hp1
NA18950.hp1
NA18951.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18975.hp1
NA18984.hp1
NA18993.hp2
NA19030.hp2
NA19043.hp1
NA19068.hp2
NA19240.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+58069A>G
c.1892+58069A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36838791
chr21:36838949 C
C
 A
A
 2 a0002c0002t0040g0242
a0002c0002t0064g0243
a0002c0002t0040g0242
a0002c0002t0064g0243
 2 HG02559.hp2
HG03041.hp1
HG02559.hp2
HG03041.hp1
 intron_variant MODIFIER c.1892+57911G>T
c.1892+57911G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36838949
chr21:36839032 C
C
 CT
CT
 73 a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
others(70): Show 
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0019g0247
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0030g0048
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0037g0254
a0001c0001t0038g0102
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0061g0163
a0001c0001t0075g0049
a0001c0001t0081g0016
a0001c0001t0090g0005
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0017t0108g0082
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0062g0145
a0003c0005t0092g0134
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 73 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(70): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01496.hp1
HG01975.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02572.hp2
HG02615.hp1
HG02647.hp1
HG02683.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp1
HG02976.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03927.hp2
HG04204.hp2
NA18522.hp2
NA18940.hp1
NA18942.hp1
NA18944.hp1
NA18950.hp1
NA18951.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18975.hp1
NA18984.hp1
NA18993.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19240.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+57827dupA
c.1892+57827dupA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36839032
chr21:36839189 G
G
 A
A
 10 a0001c0001t0006g0256
a0001c0001t0018g0189
a0001c0001t0022g0187
others(7): Show 
a0001c0001t0006g0256
a0001c0001t0018g0189
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0030g0257
a0001c0001t0069g0255
a0001c0001t0093g0133
a0001c0004t0017g0219
a0001c0004t0017g0220
 10 HG01099.hp2
HG01884.hp1
HG01952.hp2
others(7): Show 
HG01099.hp2
HG01884.hp1
HG01952.hp2
HG02615.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG03098.hp2
HG03130.hp2
HG03225.hp2
 intron_variant MODIFIER c.1892+57671C>T
c.1892+57671C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36839189
chr21:36839278 C
C
 G
G
 2 a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0026g0250
a0001c0001t0026g0251
 2 HG01257.hp2
HG01258.hp1
HG01257.hp2
HG01258.hp1
 intron_variant MODIFIER c.1892+57582G>C
c.1892+57582G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36839278
chr21:36839293 C
C
 T
T
 49 a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
others(46): Show 
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0004g0015
a0001c0001t0005g0052
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0009g0178
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0019g0247
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0030g0048
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0038g0102
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0061g0163
a0001c0001t0075g0049
a0001c0001t0081g0016
a0001c0001t0090g0005
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0010t0011g0020
a0002c0002t0018g0153
a0003c0005t0092g0134
a0009c0009t0012g0196
 49 HG00280.hp2
HG00323.hp2
HG00741.hp2
others(46): Show 
HG00280.hp2
HG00323.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01257.hp2
HG01258.hp1
HG01496.hp1
HG01975.hp1
HG02109.hp1
HG02145.hp2
HG02257.hp2
HG02300.hp2
HG02572.hp2
HG02615.hp1
HG02647.hp1
HG02683.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp1
HG03209.hp1
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03927.hp2
HG04204.hp2
NA18522.hp2
NA18944.hp1
NA18951.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18975.hp1
NA18993.hp2
NA19030.hp2
NA19043.hp1
NA19068.hp2
NA19240.hp1
 intron_variant MODIFIER c.1892+57567G>A
c.1892+57567G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36839293
chr21:36839302 C
C
 T
T
 2 a0001c0001t0037g0254
a0002c0002t0025g0146
a0001c0001t0037g0254
a0002c0002t0025g0146
 2 HG02109.hp2
HG02280.hp2
HG02109.hp2
HG02280.hp2
 intron_variant MODIFIER c.1892+57558G>A
c.1892+57558G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36839302
chr21:36839378 GC
GC
 G
G
 62 a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
others(59): Show 
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0004g0015
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0019g0247
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0030g0048
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0038g0102
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0061g0163
a0001c0001t0075g0049
a0001c0001t0081g0016
a0001c0001t0090g0005
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0002c0002t0018g0153
a0003c0005t0092g0134
a0008c0012t0035g0069
a0009c0009t0012g0196
 62 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(59): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01496.hp1
HG01975.hp1
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02300.hp2
HG02572.hp2
HG02615.hp1
HG02647.hp1
HG02683.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp1
HG03209.hp1
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03927.hp2
HG04204.hp2
NA18522.hp2
NA18940.hp1
NA18942.hp1
NA18944.hp1
NA18950.hp1
NA18951.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18975.hp1
NA18984.hp1
NA18993.hp2
NA19030.hp2
NA19043.hp1
NA19068.hp2
NA19240.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+57481delG
c.1892+57481delG
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36839378
chr21:36839722 CAT
CAT
 C
C
 75 a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
others(72): Show 
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0019g0061
a0001c0001t0019g0247
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0037g0254
a0001c0001t0038g0102
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0061g0163
a0001c0001t0075g0049
a0001c0001t0081g0016
a0001c0001t0090g0005
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0017t0108g0082
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0062g0145
a0003c0005t0092g0134
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 75 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(72): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01496.hp1
HG01975.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02572.hp2
HG02615.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp1
HG02895.hp1
HG02897.hp1
HG02922.hp1
HG02976.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03927.hp2
HG04204.hp2
NA18522.hp2
NA18940.hp1
NA18942.hp1
NA18944.hp1
NA18950.hp1
NA18951.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18975.hp1
NA18984.hp1
NA18993.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19240.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+57136_1892+57
others(8): Show 
c.1892+57136_1892+57137delAT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36839722
chr21:36839909 A
A
 T
T
 49 a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
others(46): Show 
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0004g0015
a0001c0001t0005g0052
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0009g0178
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0019g0247
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0030g0048
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0038g0102
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0061g0163
a0001c0001t0075g0049
a0001c0001t0081g0016
a0001c0001t0090g0005
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0010t0011g0020
a0002c0002t0018g0153
a0003c0005t0092g0134
a0009c0009t0012g0196
 49 HG00280.hp2
HG00323.hp2
HG00741.hp2
others(46): Show 
HG00280.hp2
HG00323.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01257.hp2
HG01258.hp1
HG01496.hp1
HG01975.hp1
HG02109.hp1
HG02145.hp2
HG02257.hp2
HG02300.hp2
HG02572.hp2
HG02615.hp1
HG02647.hp1
HG02683.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp1
HG03209.hp1
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03927.hp2
HG04204.hp2
NA18522.hp2
NA18944.hp1
NA18951.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18975.hp1
NA18993.hp2
NA19030.hp2
NA19043.hp1
NA19068.hp2
NA19240.hp1
 intron_variant MODIFIER c.1892+56951T>A
c.1892+56951T>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36839909
chr21:36839979 G
G
 A
A
 2 a0001c0001t0003g0175
a0001c0010t0011g0020
a0001c0001t0003g0175
a0001c0010t0011g0020
 2 NA18951.hp2
NA18970.hp1
NA18951.hp2
NA18970.hp1
 intron_variant MODIFIER c.1892+56881C>T
c.1892+56881C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36839979
chr21:36839994 A
A
 G
G
 4 a0001c0001t0019g0101
a0001c0001t0028g0167
a0001c0004t0042g0209
others(1): Show 
a0001c0001t0019g0101
a0001c0001t0028g0167
a0001c0004t0042g0209
a0001c0004t0072g0248
 4 HG00735.hp1
HG03225.hp1
HG03471.hp2
others(1): Show 
HG00735.hp1
HG03225.hp1
HG03471.hp2
NA19030.hp1
 intron_variant MODIFIER c.1892+56866T>C
c.1892+56866T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36839994
chr21:36840149 T
T
 A
A
 1 a0001c0004t0072g0248
a0001c0004t0072g0248
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.1892+56711A>T
c.1892+56711A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36840149
chr21:36840297 A
A
 T
T
 2 a0001c0001t0019g0061
a0001c0001t0031g0057
a0001c0001t0019g0061
a0001c0001t0031g0057
 2 HG01109.hp1
HG02717.hp1
HG01109.hp1
HG02717.hp1
 intron_variant MODIFIER c.1892+56563T>A
c.1892+56563T>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36840297
chr21:36840305 A
A
 T
T
 4 a0001c0001t0028g0192
a0001c0006t0023g0212
a0001c0006t0023g0222
others(1): Show 
a0001c0001t0028g0192
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
 4 HG02145.hp1
HG03139.hp1
HG03195.hp1
others(1): Show 
HG02145.hp1
HG03139.hp1
HG03195.hp1
NA19043.hp2
 intron_variant MODIFIER c.1892+56555T>A
c.1892+56555T>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36840305
chr21:36840342 T
T
 C
C
 6 a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0028g0167
others(3): Show 
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0028g0167
a0001c0001t0031g0057
a0001c0004t0042g0209
a0001c0004t0072g0248
 6 HG00735.hp1
HG01109.hp1
HG02717.hp1
others(3): Show 
HG00735.hp1
HG01109.hp1
HG02717.hp1
HG03225.hp1
HG03471.hp2
NA19030.hp1
 intron_variant MODIFIER c.1892+56518A>G
c.1892+56518A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36840342
chr21:36840411 G
G
 C
C
 1 a0008c0012t0035g0069
a0008c0012t0035g0069
 1 NA18940.hp1
NA18940.hp1
 intron_variant MODIFIER c.1892+56449C>G
c.1892+56449C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36840411
chr21:36840412 G
G
 T
T
 1 a0008c0012t0035g0069
a0008c0012t0035g0069
 1 NA18940.hp1
NA18940.hp1
 intron_variant MODIFIER c.1892+56448C>A
c.1892+56448C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36840412
chr21:36840415 T
T
 A
A
 1 a0008c0012t0035g0069
a0008c0012t0035g0069
 1 NA18940.hp1
NA18940.hp1
 intron_variant MODIFIER c.1892+56445A>T
c.1892+56445A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36840415
chr21:36840418 T
T
 C
C
 2 a0001c0001t0001g0017
a0001c0001t0006g0012
a0001c0001t0001g0017
a0001c0001t0006g0012
 2 NA19068.hp1
NA19074.hp1
NA19068.hp1
NA19074.hp1
 intron_variant MODIFIER c.1892+56442A>G
c.1892+56442A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36840418
chr21:36840419 C
C
 G
G
 1 a0008c0012t0035g0069
a0008c0012t0035g0069
 1 NA18940.hp1
NA18940.hp1
 intron_variant MODIFIER c.1892+56441G>C
c.1892+56441G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36840419
chr21:36840423 A
A
 T
T
 1 a0008c0012t0035g0069
a0008c0012t0035g0069
 1 NA18940.hp1
NA18940.hp1
 intron_variant MODIFIER c.1892+56437T>A
c.1892+56437T>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36840423
chr21:36840425 A
A
 T
T
 1 a0008c0012t0035g0069
a0008c0012t0035g0069
 1 NA18940.hp1
NA18940.hp1
 intron_variant MODIFIER c.1892+56435T>A
c.1892+56435T>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36840425
chr21:36840538 G
G
 A
A
 2 a0002c0002t0040g0242
a0002c0002t0064g0243
a0002c0002t0040g0242
a0002c0002t0064g0243
 2 HG02559.hp2
HG03041.hp1
HG02559.hp2
HG03041.hp1
 intron_variant MODIFIER c.1892+56322C>T
c.1892+56322C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36840538
chr21:36840592 T
T
 G
G
 136 a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0001g0128
others(133): Show 
a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0098
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0069g0255
a0001c0001t0073g0246
a0001c0001t0075g0049
a0001c0001t0081g0016
a0001c0001t0085g0110
a0001c0001t0090g0005
a0001c0001t0093g0133
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0040g0242
a0002c0002t0043g0152
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0092g0134
a0005c0011t0033g0139
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 136 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(133): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
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.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18944.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp2
NA18959.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp2
NA18975.hp1
NA18979.hp1
NA18984.hp1
NA18993.hp2
NA19004.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19084.hp1
NA19240.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+56268A>C
c.1892+56268A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36840592
chr21:36840612 A
A
 G
G
 4 a0001c0001t0037g0254
a0002c0002t0013g0147
a0002c0002t0025g0146
others(1): Show 
a0001c0001t0037g0254
a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0062g0145
 4 HG02109.hp2
HG02280.hp2
HG03139.hp2
others(1): Show 
HG02109.hp2
HG02280.hp2
HG03139.hp2
HG03209.hp2
 intron_variant MODIFIER c.1892+56248T>C
c.1892+56248T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36840612
chr21:36840632 T
T
 C
C
 2 a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0064
a0001c0001t0008g0065
 2 HG03490.hp1
HG03492.hp1
HG03490.hp1
HG03492.hp1
 intron_variant MODIFIER c.1892+56228A>G
c.1892+56228A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36840632
chr21:36840724 C
C
 T
T
 11 a0001c0001t0001g0037
a0001c0001t0001g0080
a0001c0001t0001g0092
others(8): Show 
a0001c0001t0001g0037
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0011g0118
a0001c0001t0016g0091
a0001c0001t0020g0121
a0001c0001t0021g0129
a0001c0001t0076g0090
a0001c0001t0080g0093
a0001c0001t0095g0117
a0001c0001t0102g0063
 11 HG00673.hp1
HG01496.hp2
HG02027.hp1
others(8): Show 
HG00673.hp1
HG01496.hp2
HG02027.hp1
HG02135.hp1
NA18947.hp1
NA18948.hp2
NA18979.hp2
NA18984.hp2
NA19057.hp1
NA19084.hp2
NA19088.hp2
 intron_variant MODIFIER c.1892+56136G>A
c.1892+56136G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36840724
chr21:36840758 G
G
 A
A
 10 a0001c0001t0006g0256
a0001c0001t0018g0189
a0001c0001t0022g0187
others(7): Show 
a0001c0001t0006g0256
a0001c0001t0018g0189
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0030g0257
a0001c0001t0069g0255
a0001c0001t0093g0133
a0001c0004t0017g0219
a0001c0004t0017g0220
 10 HG01099.hp2
HG01884.hp1
HG01952.hp2
others(7): Show 
HG01099.hp2
HG01884.hp1
HG01952.hp2
HG02615.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG03098.hp2
HG03130.hp2
HG03225.hp2
 intron_variant MODIFIER c.1892+56102C>T
c.1892+56102C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36840758
chr21:36840770 G
G
 A
A
 1 a0001c0004t0072g0248
a0001c0004t0072g0248
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.1892+56090C>T
c.1892+56090C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36840770
chr21:36840774 G
G
 C
C
 1 a0001c0001t0018g0189
a0001c0001t0018g0189
 1 HG01952.hp2
HG01952.hp2
 intron_variant MODIFIER c.1892+56086C>G
c.1892+56086C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36840774
chr21:36840813 A
A
 G
G
 4 a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0004t0067g0067
others(1): Show 
a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0004t0067g0067
a0002c0002t0025g0149
 4 HG01891.hp1
HG02559.hp1
HG03516.hp1
others(1): Show 
HG01891.hp1
HG02559.hp1
HG03516.hp1
HG06807.hp1
 intron_variant MODIFIER c.1892+56047T>C
c.1892+56047T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36840813
chr21:36840849 G
G
 A
A
 7 a0001c0001t0006g0256
a0001c0001t0018g0189
a0001c0001t0024g0191
others(4): Show 
a0001c0001t0006g0256
a0001c0001t0018g0189
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0030g0257
a0001c0004t0017g0219
a0001c0004t0017g0220
 7 HG01952.hp2
HG02615.hp2
HG02896.hp1
others(4): Show 
HG01952.hp2
HG02615.hp2
HG02896.hp1
HG02897.hp2
HG03098.hp2
HG03130.hp2
HG03225.hp2
 intron_variant MODIFIER c.1892+56011C>T
c.1892+56011C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36840849
chr21:36841030 T
T
 C
C
 1 a0001c0001t0007g0227
a0001c0001t0007g0227
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.1892+55830A>G
c.1892+55830A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36841030
chr21:36841121 T
T
 C
C
 62 a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
others(59): Show 
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0004g0015
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0019g0247
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0030g0048
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0038g0102
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0061g0163
a0001c0001t0075g0049
a0001c0001t0081g0016
a0001c0001t0090g0005
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0002c0002t0018g0153
a0003c0005t0092g0134
a0008c0012t0035g0069
a0009c0009t0012g0196
 62 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(59): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01496.hp1
HG01975.hp1
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02300.hp2
HG02572.hp2
HG02615.hp1
HG02647.hp1
HG02683.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp1
HG03209.hp1
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03927.hp2
HG04204.hp2
NA18522.hp2
NA18940.hp1
NA18942.hp1
NA18944.hp1
NA18950.hp1
NA18951.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18975.hp1
NA18984.hp1
NA18993.hp2
NA19030.hp2
NA19043.hp1
NA19068.hp2
NA19240.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+55739A>G
c.1892+55739A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36841121
chr21:36841200 T
T
 G
G
 1 a0001c0001t0020g0034
a0001c0001t0020g0034
 1 HG02083.hp1
HG02083.hp1
 intron_variant MODIFIER c.1892+55660A>C
c.1892+55660A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36841200
chr21:36841239 C
C
 T
T
 1 a0001c0001t0012g0234
a0001c0001t0012g0234
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.1892+55621G>A
c.1892+55621G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36841239
chr21:36841262 C
C
 T
T
 4 a0001c0001t0019g0101
a0001c0001t0028g0167
a0001c0004t0042g0209
others(1): Show 
a0001c0001t0019g0101
a0001c0001t0028g0167
a0001c0004t0042g0209
a0001c0004t0072g0248
 4 HG00735.hp1
HG03225.hp1
HG03471.hp2
others(1): Show 
HG00735.hp1
HG03225.hp1
HG03471.hp2
NA19030.hp1
 intron_variant MODIFIER c.1892+55598G>A
c.1892+55598G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36841262
chr21:36841290 C
C
 T
T
 1 a0001c0001t0001g0079
a0001c0001t0001g0079
 1 HG00639.hp2
HG00639.hp2
 intron_variant MODIFIER c.1892+55570G>A
c.1892+55570G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36841290
chr21:36841388 G
G
 A
A
 13 a0001c0001t0005g0086
a0001c0001t0006g0256
a0001c0001t0018g0189
others(10): Show 
a0001c0001t0005g0086
a0001c0001t0006g0256
a0001c0001t0018g0189
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0030g0257
a0001c0001t0036g0123
a0001c0001t0069g0255
a0001c0001t0093g0133
a0001c0001t0104g0114
a0001c0004t0017g0219
a0001c0004t0017g0220
 13 HG01099.hp2
HG01884.hp1
HG01952.hp2
others(10): Show 
HG01099.hp2
HG01884.hp1
HG01952.hp2
HG02040.hp2
HG02615.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG03098.hp2
HG03130.hp2
HG03225.hp2
NA18944.hp2
NA18952.hp1
 intron_variant MODIFIER c.1892+55472C>T
c.1892+55472C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36841388
chr21:36841449 TA
TA
 T
T
 5 a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0001t0085g0110
others(2): Show 
a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0001t0085g0110
a0001c0004t0067g0067
a0002c0002t0025g0149
 5 HG01891.hp1
HG02559.hp1
HG03516.hp1
others(2): Show 
HG01891.hp1
HG02559.hp1
HG03516.hp1
HG06807.hp1
HG06807.hp2
 intron_variant MODIFIER c.1892+55410delT
c.1892+55410delT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36841449
chr21:36841459 G
G
 T
T
 4 a0001c0001t0019g0101
a0001c0001t0028g0167
a0001c0004t0042g0209
others(1): Show 
a0001c0001t0019g0101
a0001c0001t0028g0167
a0001c0004t0042g0209
a0001c0004t0072g0248
 4 HG00735.hp1
HG03225.hp1
HG03471.hp2
others(1): Show 
HG00735.hp1
HG03225.hp1
HG03471.hp2
NA19030.hp1
 intron_variant MODIFIER c.1892+55401C>A
c.1892+55401C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36841459
chr21:36841462 G
G
 A
A
 1 a0001c0001t0013g0223
a0001c0001t0013g0223
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.1892+55398C>T
c.1892+55398C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36841462
chr21:36841565 C
C
 T
T
 1 a0001c0001t0013g0231
a0001c0001t0013g0231
 1 HG02080.hp1
HG02080.hp1
 intron_variant MODIFIER c.1892+55295G>A
c.1892+55295G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36841565
chr21:36841583 G
G
 A
A
 5 a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0001t0085g0110
others(2): Show 
a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0001t0085g0110
a0001c0004t0067g0067
a0002c0002t0025g0149
 5 HG01891.hp1
HG02559.hp1
HG03516.hp1
others(2): Show 
HG01891.hp1
HG02559.hp1
HG03516.hp1
HG06807.hp1
HG06807.hp2
 intron_variant MODIFIER c.1892+55277C>T
c.1892+55277C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36841583
chr21:36841597 T
T
 C
C
 2 a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0045g0151
a0002c0002t0046g0150
 2 HG03579.hp2
NA18522.hp1
HG03579.hp2
NA18522.hp1
 intron_variant MODIFIER c.1892+55263A>G
c.1892+55263A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36841597
chr21:36841668 G
G
 A
A
 12 a0001c0001t0006g0256
a0001c0001t0018g0189
a0001c0001t0022g0187
others(9): Show 
a0001c0001t0006g0256
a0001c0001t0018g0189
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0030g0257
a0001c0001t0069g0255
a0001c0001t0093g0133
a0001c0004t0017g0219
a0001c0004t0017g0220
a0002c0002t0040g0242
a0002c0002t0064g0243
 12 HG01099.hp2
HG01884.hp1
HG01952.hp2
others(9): Show 
HG01099.hp2
HG01884.hp1
HG01952.hp2
HG02559.hp2
HG02615.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03225.hp2
 intron_variant MODIFIER c.1892+55192C>T
c.1892+55192C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36841668
chr21:36841684 G
G
 A
A
 6 a0001c0001t0002g0174
a0001c0001t0037g0254
a0001c0003t0003g0199
others(3): Show 
a0001c0001t0002g0174
a0001c0001t0037g0254
a0001c0003t0003g0199
a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0062g0145
 6 HG02109.hp2
HG02280.hp2
HG03139.hp2
others(3): Show 
HG02109.hp2
HG02280.hp2
HG03139.hp2
HG03209.hp2
HG03669.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+55176C>T
c.1892+55176C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36841684
chr21:36841739 A
A
 T
T
 28 a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0002g0193
others(25): Show 
a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0005g0115
a0001c0001t0008g0078
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0016g0098
a0001c0001t0020g0002
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0038g0054
a0001c0001t0051g0168
a0001c0001t0057g0225
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0018t0004g0060
 28 HG01884.hp2
HG02080.hp1
HG02129.hp1
others(25): Show 
HG01884.hp2
HG02080.hp1
HG02129.hp1
HG02523.hp2
HG02572.hp1
HG02622.hp1
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02922.hp2
HG02965.hp2
HG03130.hp1
HG03453.hp2
HG03710.hp2
HG03927.hp1
HG04115.hp2
HG04228.hp2
NA18939.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp2
NA18952.hp2
NA18959.hp2
NA18971.hp2
NA18979.hp1
NA19004.hp1
NA19009.hp2
NA19084.hp1
 intron_variant MODIFIER c.1892+55121T>A
c.1892+55121T>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36841739
chr21:36841747 C
C
 T
T
 49 a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
others(46): Show 
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0004g0015
a0001c0001t0005g0052
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0009g0178
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0019g0247
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0030g0048
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0038g0102
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0061g0163
a0001c0001t0075g0049
a0001c0001t0081g0016
a0001c0001t0090g0005
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0010t0011g0020
a0002c0002t0018g0153
a0003c0005t0092g0134
a0009c0009t0012g0196
 49 HG00280.hp2
HG00323.hp2
HG00741.hp2
others(46): Show 
HG00280.hp2
HG00323.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01257.hp2
HG01258.hp1
HG01496.hp1
HG01975.hp1
HG02109.hp1
HG02145.hp2
HG02257.hp2
HG02300.hp2
HG02572.hp2
HG02615.hp1
HG02647.hp1
HG02683.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp1
HG03209.hp1
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03927.hp2
HG04204.hp2
NA18522.hp2
NA18944.hp1
NA18951.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18975.hp1
NA18993.hp2
NA19030.hp2
NA19043.hp1
NA19068.hp2
NA19240.hp1
 intron_variant MODIFIER c.1892+55113G>A
c.1892+55113G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36841747
chr21:36841834 C
C
 T
T
 6 a0001c0001t0002g0193
a0001c0001t0029g0051
a0001c0001t0029g0136
others(3): Show 
a0001c0001t0002g0193
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0038g0054
a0001c0001t0105g0053
a0001c0001t0107g0050
 6 HG01884.hp2
HG02572.hp1
HG02809.hp1
others(3): Show 
HG01884.hp2
HG02572.hp1
HG02809.hp1
HG02818.hp2
HG02922.hp2
HG03453.hp2
 intron_variant MODIFIER c.1892+55026G>A
c.1892+55026G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36841834
chr21:36841835 G
G
 A
A
 1 a0001c0001t0006g0109
a0001c0001t0006g0109
 1 HG01975.hp1
HG01975.hp1
 intron_variant MODIFIER c.1892+55025C>T
c.1892+55025C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36841835
chr21:36841857 C
C
 T
T
 2 a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0032g0081
a0001c0001t0032g0111
 2 HG02145.hp2
HG02257.hp2
HG02145.hp2
HG02257.hp2
 intron_variant MODIFIER c.1892+55003G>A
c.1892+55003G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36841857
chr21:36841875 G
G
 A
A
 1 a0001c0001t0003g0228
a0001c0001t0003g0228
 1 NA18950.hp2
NA18950.hp2
 intron_variant MODIFIER c.1892+54985C>T
c.1892+54985C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36841875
chr21:36841934 T
T
 C
C
 4 a0001c0001t0028g0192
a0001c0001t0044g0161
a0001c0001t0071g0089
others(1): Show 
a0001c0001t0028g0192
a0001c0001t0044g0161
a0001c0001t0071g0089
a0001c0004t0017g0224
 4 HG02486.hp2
HG02647.hp2
HG03139.hp1
others(1): Show 
HG02486.hp2
HG02647.hp2
HG03139.hp1
NA19240.hp2
 intron_variant MODIFIER c.1892+54926A>G
c.1892+54926A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36841934
chr21:36841958 C
C
 A
A
 1 a0001c0003t0003g0204
a0001c0003t0003g0204
 1 NA18971.hp2
NA18971.hp2
 intron_variant MODIFIER c.1892+54902G>T
c.1892+54902G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36841958
chr21:36842047 T
T
 C
C
 8 a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
others(5): Show 
a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0063g0208
a0001c0004t0004g0046
a0003c0005t0002g0195
a0003c0005t0027g0218
 8 HG02280.hp1
HG02723.hp2
HG02818.hp1
others(5): Show 
HG02280.hp1
HG02723.hp2
HG02818.hp1
HG02886.hp1
HG02965.hp1
HG03453.hp1
HG03579.hp1
NA20129.hp1
 intron_variant MODIFIER c.1892+54813A>G
c.1892+54813A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36842047
chr21:36842160 T
T
 G
G
 1 a0001c0001t0037g0254
a0001c0001t0037g0254
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.1892+54700A>C
c.1892+54700A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36842160
chr21:36842178 G
G
 A
A
 2 a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0007t0007g0200
a0001c0007t0012g0207
 2 HG01109.hp2
HG02257.hp1
HG01109.hp2
HG02257.hp1
 intron_variant MODIFIER c.1892+54682C>T
c.1892+54682C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36842178
chr21:36842313 G
G
 A
A
 2 a0001c0001t0019g0101
a0001c0004t0042g0209
a0001c0001t0019g0101
a0001c0004t0042g0209
 2 HG00735.hp1
NA19030.hp1
HG00735.hp1
NA19030.hp1
 intron_variant MODIFIER c.1892+54547C>T
c.1892+54547C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36842313
chr21:36842491 G
G
 A
A
 4 a0001c0001t0037g0254
a0002c0002t0013g0147
a0002c0002t0025g0146
others(1): Show 
a0001c0001t0037g0254
a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0062g0145
 4 HG02109.hp2
HG02280.hp2
HG03139.hp2
others(1): Show 
HG02109.hp2
HG02280.hp2
HG03139.hp2
HG03209.hp2
 intron_variant MODIFIER c.1892+54369C>T
c.1892+54369C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36842491
chr21:36842558 T
T
 C
C
 1 a0001c0001t0004g0045
a0001c0001t0004g0045
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.1892+54302A>G
c.1892+54302A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36842558
chr21:36842569 A
A
 G
G
 136 a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0001g0128
others(133): Show 
a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0098
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0069g0255
a0001c0001t0073g0246
a0001c0001t0075g0049
a0001c0001t0081g0016
a0001c0001t0085g0110
a0001c0001t0090g0005
a0001c0001t0093g0133
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0040g0242
a0002c0002t0043g0152
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0092g0134
a0005c0011t0033g0139
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 136 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(133): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
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.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18944.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp2
NA18959.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp2
NA18975.hp1
NA18979.hp1
NA18984.hp1
NA18993.hp2
NA19004.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19084.hp1
NA19240.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+54291T>C
c.1892+54291T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36842569
chr21:36842651 G
G
 A
A
 1 a0001c0001t0019g0101
a0001c0001t0019g0101
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.1892+54209C>T
c.1892+54209C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36842651
chr21:36843032 T
T
 C
C
 1 a0001c0001t0002g0232
a0001c0001t0002g0232
 1 NA19009.hp2
NA19009.hp2
 intron_variant MODIFIER c.1892+53828A>G
c.1892+53828A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36843032
chr21:36843061 G
G
 A
A
 2 a0002c0002t0040g0242
a0002c0002t0064g0243
a0002c0002t0040g0242
a0002c0002t0064g0243
 2 HG02559.hp2
HG03041.hp1
HG02559.hp2
HG03041.hp1
 intron_variant MODIFIER c.1892+53799C>T
c.1892+53799C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36843061
chr21:36843249 G
G
 A
A
 44 a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0002g0193
others(41): Show 
a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0005g0115
a0001c0001t0008g0078
a0001c0001t0010g0213
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0098
a0001c0001t0018g0176
a0001c0001t0020g0002
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0031g0245
a0001c0001t0038g0054
a0001c0001t0051g0168
a0001c0001t0057g0225
a0001c0001t0063g0208
a0001c0001t0073g0246
a0001c0001t0085g0110
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0018t0004g0060
a0002c0002t0025g0149
a0002c0002t0043g0152
a0003c0005t0002g0195
a0003c0005t0027g0218
a0005c0011t0033g0139
 44 HG01884.hp2
HG01891.hp1
HG02080.hp1
others(41): Show 
HG01884.hp2
HG01891.hp1
HG02080.hp1
HG02129.hp1
HG02280.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03130.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp1
HG03579.hp1
HG03710.hp2
HG03927.hp1
HG04115.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18939.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp2
NA18952.hp2
NA18959.hp2
NA18971.hp2
NA18979.hp1
NA19004.hp1
NA19009.hp2
NA19084.hp1
NA20129.hp1
 intron_variant MODIFIER c.1892+53611C>T
c.1892+53611C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36843249
chr21:36843355 A
A
 T
T
 6 a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0028g0167
others(3): Show 
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0028g0167
a0001c0001t0031g0057
a0001c0004t0042g0209
a0001c0004t0072g0248
 6 HG00735.hp1
HG01109.hp1
HG02717.hp1
others(3): Show 
HG00735.hp1
HG01109.hp1
HG02717.hp1
HG03225.hp1
HG03471.hp2
NA19030.hp1
 intron_variant MODIFIER c.1892+53505T>A
c.1892+53505T>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36843355
chr21:36843623 A
A
 G
G
 13 a0001c0001t0002g0174
a0001c0001t0003g0226
a0001c0001t0005g0021
others(10): Show 
a0001c0001t0002g0174
a0001c0001t0003g0226
a0001c0001t0005g0021
a0001c0001t0005g0056
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0007t0007g0200
a0001c0007t0012g0207
a0008c0012t0035g0069
 13 HG00323.hp1
HG01106.hp1
HG01109.hp2
others(10): Show 
HG00323.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01256.hp2
HG01258.hp2
HG02257.hp1
HG03669.hp1
NA18940.hp1
NA18942.hp1
NA18950.hp1
NA18984.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+53237T>C
c.1892+53237T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36843623
chr21:36843759 TAAG
TAAG
 T
T
 8 a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
others(5): Show 
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0172
a0001c0001t0002g0183
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
 8 HG01070.hp2
HG01071.hp2
HG01168.hp2
others(5): Show 
HG01070.hp2
HG01071.hp2
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG02300.hp2
HG03490.hp2
HG03669.hp2
 intron_variant MODIFIER c.1892+53098_1892+53
others(9): Show 
c.1892+53098_1892+53100delCTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36843759
chr21:36843768 C
C
 T
T
 7 a0001c0001t0006g0256
a0001c0001t0018g0189
a0001c0001t0024g0191
others(4): Show 
a0001c0001t0006g0256
a0001c0001t0018g0189
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0030g0257
a0001c0004t0017g0219
a0001c0004t0017g0220
 7 HG01952.hp2
HG02615.hp2
HG02896.hp1
others(4): Show 
HG01952.hp2
HG02615.hp2
HG02896.hp1
HG02897.hp2
HG03098.hp2
HG03130.hp2
HG03225.hp2
 intron_variant MODIFIER c.1892+53092G>A
c.1892+53092G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36843768
chr21:36843769 G
G
 A
A
 2 a0002c0002t0040g0242
a0002c0002t0064g0243
a0002c0002t0040g0242
a0002c0002t0064g0243
 2 HG02559.hp2
HG03041.hp1
HG02559.hp2
HG03041.hp1
 intron_variant MODIFIER c.1892+53091C>T
c.1892+53091C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36843769
chr21:36843821 C
C
 A
A
 71 a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
others(68): Show 
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0005g0021
a0001c0001t0005g0056
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0019g0247
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0030g0048
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0037g0254
a0001c0001t0038g0102
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0061g0163
a0001c0001t0075g0049
a0001c0001t0081g0016
a0001c0001t0085g0110
a0001c0001t0090g0005
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0017t0108g0082
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0062g0145
a0003c0005t0092g0134
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 71 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(68): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01496.hp1
HG01975.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02572.hp2
HG02615.hp1
HG02647.hp1
HG02683.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03927.hp2
HG04204.hp2
HG06807.hp2
NA18522.hp2
NA18940.hp1
NA18942.hp1
NA18944.hp1
NA18950.hp1
NA18951.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18975.hp1
NA18984.hp1
NA18993.hp2
NA19030.hp2
NA19043.hp2
NA19068.hp2
NA19240.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+53039G>T
c.1892+53039G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36843821
chr21:36843832 C
C
 G
G
 2 a0001c0001t0065g0252
a0001c0001t0106g0253
a0001c0001t0065g0252
a0001c0001t0106g0253
 2 HG02622.hp2
HG03041.hp2
HG02622.hp2
HG03041.hp2
 intron_variant MODIFIER c.1892+53028G>C
c.1892+53028G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36843832
chr21:36843835 G
G
 A
A
 1 a0001c0004t0042g0209
a0001c0004t0042g0209
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.1892+53025C>T
c.1892+53025C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36843835
chr21:36844230 G
G
 A
A
 3 a0001c0001t0022g0187
a0001c0001t0069g0255
a0001c0001t0093g0133
a0001c0001t0022g0187
a0001c0001t0069g0255
a0001c0001t0093g0133
 3 HG01099.hp2
HG01884.hp1
HG02809.hp2
HG01099.hp2
HG01884.hp1
HG02809.hp2
 intron_variant MODIFIER c.1892+52630C>T
c.1892+52630C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36844230
chr21:36844242 A
A
 G
G
 147 a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0001g0128
others(144): Show 
a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0018
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0107
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0098
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0047g0188
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0069g0255
a0001c0001t0073g0246
a0001c0001t0075g0049
a0001c0001t0078g0108
a0001c0001t0081g0016
a0001c0001t0085g0110
a0001c0001t0090g0005
a0001c0001t0093g0133
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0043g0152
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 147 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(144): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.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
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18959.hp2
NA18961.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp2
NA18975.hp1
NA18979.hp1
NA18984.hp1
NA18993.hp2
NA19004.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19084.hp1
NA19240.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+52618T>C
c.1892+52618T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36844242
chr21:36844245 G
G
 A
A
 137 a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0001g0128
others(134): Show 
a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0018
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0107
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0098
a0001c0001t0018g0176
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0047g0188
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0073g0246
a0001c0001t0075g0049
a0001c0001t0078g0108
a0001c0001t0081g0016
a0001c0001t0085g0110
a0001c0001t0090g0005
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0004g0046
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0043g0152
a0002c0002t0062g0145
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 137 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(134): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01496.hp1
HG01884.hp2
HG01891.hp1
HG01975.hp1
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18959.hp2
NA18961.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp2
NA18975.hp1
NA18979.hp1
NA18984.hp1
NA18993.hp2
NA19004.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19084.hp1
NA19240.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+52615C>T
c.1892+52615C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36844245
chr21:36844296 T
T
 A
A
 18 a0001c0001t0004g0138
a0001c0001t0008g0018
a0001c0001t0011g0107
others(15): Show 
a0001c0001t0004g0138
a0001c0001t0008g0018
a0001c0001t0011g0107
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0028g0167
a0001c0001t0031g0057
a0001c0001t0047g0188
a0001c0001t0065g0252
a0001c0001t0078g0108
a0001c0001t0106g0253
a0001c0004t0042g0209
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0015g0142
a0002c0002t0027g0157
a0003c0005t0058g0214
 18 HG00735.hp1
HG01109.hp1
HG01175.hp1
others(15): Show 
HG00735.hp1
HG01109.hp1
HG01175.hp1
HG02135.hp2
HG02602.hp1
HG02622.hp2
HG02717.hp1
HG02723.hp1
HG02895.hp2
HG03041.hp2
HG03225.hp1
HG03239.hp1
HG03540.hp2
NA18939.hp2
NA18942.hp2
NA18951.hp1
NA18961.hp1
NA19030.hp1
 intron_variant MODIFIER c.1892+52564A>T
c.1892+52564A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36844296
chr21:36844387 T
T
 C
C
 6 a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0001t0085g0110
others(3): Show 
a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0001t0085g0110
a0001c0004t0067g0067
a0001c0004t0068g0088
a0002c0002t0025g0149
 6 HG01891.hp1
HG02559.hp1
HG03195.hp2
others(3): Show 
HG01891.hp1
HG02559.hp1
HG03195.hp2
HG03516.hp1
HG06807.hp1
HG06807.hp2
 intron_variant MODIFIER c.1892+52473A>G
c.1892+52473A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36844387
chr21:36844388 A
A
 G
G
 8 a0001c0001t0006g0256
a0001c0001t0013g0223
a0001c0001t0018g0189
others(5): Show 
a0001c0001t0006g0256
a0001c0001t0013g0223
a0001c0001t0018g0189
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0030g0257
a0001c0004t0017g0219
a0001c0004t0017g0220
 8 HG01952.hp2
HG02615.hp2
HG02896.hp1
others(5): Show 
HG01952.hp2
HG02615.hp2
HG02896.hp1
HG02897.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03225.hp2
 intron_variant MODIFIER c.1892+52472T>C
c.1892+52472T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36844388
chr21:36844575 A
A
 G
G
 1 a0001c0001t0011g0118
a0001c0001t0011g0118
 1 NA18947.hp1
NA18947.hp1
 intron_variant MODIFIER c.1892+52285T>C
c.1892+52285T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36844575
chr21:36844614 T
T
 C
C
 3 a0001c0001t0018g0176
a0002c0002t0043g0152
a0005c0011t0033g0139
a0001c0001t0018g0176
a0002c0002t0043g0152
a0005c0011t0033g0139
 3 HG02886.hp2
HG02976.hp2
HG03471.hp1
HG02886.hp2
HG02976.hp2
HG03471.hp1
 intron_variant MODIFIER c.1892+52246A>G
c.1892+52246A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36844614
chr21:36844647 T
T
 C
C
 145 a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0001g0128
others(142): Show 
a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0018
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0107
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0098
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0047g0188
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0073g0246
a0001c0001t0075g0049
a0001c0001t0078g0108
a0001c0001t0081g0016
a0001c0001t0085g0110
a0001c0001t0090g0005
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0043g0152
a0002c0002t0048g0144
a0002c0002t0062g0145
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 145 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(142): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01496.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
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.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18959.hp2
NA18961.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp2
NA18975.hp1
NA18979.hp1
NA18984.hp1
NA18993.hp2
NA19004.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19084.hp1
NA19240.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+52213A>G
c.1892+52213A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36844647
chr21:36844692 CT
CT
 C
C
 8 a0001c0001t0002g0179
a0001c0001t0031g0245
a0001c0001t0073g0246
others(5): Show 
a0001c0001t0002g0179
a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0001t0085g0110
a0001c0004t0017g0219
a0001c0004t0067g0067
a0001c0004t0068g0088
a0002c0002t0025g0149
 8 HG01891.hp1
HG02559.hp1
HG02897.hp2
others(5): Show 
HG01891.hp1
HG02559.hp1
HG02897.hp2
HG03195.hp2
HG03516.hp1
HG06807.hp1
HG06807.hp2
NA18968.hp2
 intron_variant MODIFIER c.1892+52167delA
c.1892+52167delA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36844692
chr21:36844747 G
G
 C
C
 144 a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0001g0128
others(141): Show 
a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0018
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0107
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0098
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0047g0188
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0073g0246
a0001c0001t0075g0049
a0001c0001t0078g0108
a0001c0001t0081g0016
a0001c0001t0085g0110
a0001c0001t0090g0005
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0043g0152
a0002c0002t0062g0145
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 144 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(141): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01496.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
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.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18959.hp2
NA18961.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp2
NA18975.hp1
NA18979.hp1
NA18984.hp1
NA18993.hp2
NA19004.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19084.hp1
NA19240.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+52113C>G
c.1892+52113C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36844747
chr21:36845007 A
A
 ACCACTG
ACCACTG
 3 a0001c0001t0018g0176
a0002c0002t0043g0152
a0005c0011t0033g0139
a0001c0001t0018g0176
a0002c0002t0043g0152
a0005c0011t0033g0139
 3 HG02886.hp2
HG02976.hp2
HG03471.hp1
HG02886.hp2
HG02976.hp2
HG03471.hp1
 intron_variant MODIFIER c.1892+51847_1892+51
others(12): Show 
c.1892+51847_1892+51852dupCAGTGG
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36845007
chr21:36845075 A
A
 AT
AT
 6 a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0001t0085g0110
others(3): Show 
a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0001t0085g0110
a0001c0004t0067g0067
a0001c0004t0068g0088
a0002c0002t0025g0149
 6 HG01891.hp1
HG02559.hp1
HG03195.hp2
others(3): Show 
HG01891.hp1
HG02559.hp1
HG03195.hp2
HG03516.hp1
HG06807.hp1
HG06807.hp2
 intron_variant MODIFIER c.1892+51784dupA
c.1892+51784dupA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36845075
chr21:36845202 T
T
 A
A
 13 a0001c0001t0002g0174
a0001c0001t0003g0226
a0001c0001t0005g0021
others(10): Show 
a0001c0001t0002g0174
a0001c0001t0003g0226
a0001c0001t0005g0021
a0001c0001t0005g0056
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0007t0007g0200
a0001c0007t0012g0207
a0008c0012t0035g0069
 13 HG00323.hp1
HG01106.hp1
HG01109.hp2
others(10): Show 
HG00323.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01256.hp2
HG01258.hp2
HG02257.hp1
HG03669.hp1
NA18940.hp1
NA18942.hp1
NA18950.hp1
NA18984.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+51658A>T
c.1892+51658A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36845202
chr21:36845242 G
G
 A
A
 2 a0001c0001t0008g0018
a0002c0002t0002g0155
a0001c0001t0008g0018
a0002c0002t0002g0155
 2 HG02602.hp1
HG03239.hp1
HG02602.hp1
HG03239.hp1
 intron_variant MODIFIER c.1892+51618C>T
c.1892+51618C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36845242
chr21:36845248 G
G
 A
A
 1 a0001c0001t0008g0078
a0001c0001t0008g0078
 1 HG03927.hp1
HG03927.hp1
 intron_variant MODIFIER c.1892+51612C>T
c.1892+51612C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36845248
chr21:36845256 C
C
 T
T
 1 a0001c0001t0002g0237
a0001c0001t0002g0237
 1 NA19084.hp1
NA19084.hp1
 intron_variant MODIFIER c.1892+51604G>A
c.1892+51604G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36845256
chr21:36845264 A
A
 G
G
 1 a0001c0001t0010g0164
a0001c0001t0010g0164
 1 NA18993.hp2
NA18993.hp2
 intron_variant MODIFIER c.1892+51596T>C
c.1892+51596T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36845264
chr21:36845339 C
C
 T
T
 1 a0001c0001t0001g0017
a0001c0001t0001g0017
 1 NA19068.hp1
NA19068.hp1
 intron_variant MODIFIER c.1892+51521G>A
c.1892+51521G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36845339
chr21:36845357 C
C
 T
T
 28 a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
others(25): Show 
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0004g0015
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0009g0178
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0030g0048
a0001c0001t0038g0102
a0001c0001t0075g0049
a0001c0001t0081g0016
a0001c0001t0098g0035
a0001c0010t0011g0020
 28 HG00280.hp2
HG00323.hp2
HG00741.hp2
others(25): Show 
HG00280.hp2
HG00323.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG01243.hp1
HG01496.hp1
HG02109.hp1
HG02300.hp2
HG02572.hp2
HG02683.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03669.hp2
HG03704.hp1
HG03831.hp1
NA18944.hp1
NA18951.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18975.hp1
NA18993.hp2
NA19068.hp2
 intron_variant MODIFIER c.1892+51503G>A
c.1892+51503G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36845357
chr21:36845358 G
G
 A
A
 1 a0007c0014t0070g0131
a0007c0014t0070g0131
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.1892+51502C>T
c.1892+51502C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36845358
chr21:36845413 G
G
 A
A
 33 a0001c0001t0002g0193
a0001c0001t0005g0052
a0001c0001t0010g0213
others(30): Show 
a0001c0001t0002g0193
a0001c0001t0005g0052
a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0018g0176
a0001c0001t0019g0061
a0001c0001t0022g0187
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0063g0208
a0001c0001t0069g0255
a0001c0001t0073g0246
a0001c0001t0085g0110
a0001c0001t0093g0133
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0004t0068g0088
a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0043g0152
a0002c0002t0062g0145
a0003c0005t0002g0195
a0003c0005t0027g0218
a0005c0011t0033g0139
 33 HG01099.hp2
HG01109.hp1
HG01884.hp1
others(30): Show 
HG01099.hp2
HG01109.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG02109.hp2
HG02280.hp1
HG02280.hp2
HG02559.hp1
HG02572.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp1
HG03579.hp1
HG06807.hp1
HG06807.hp2
NA19043.hp1
NA20129.hp1
 intron_variant MODIFIER c.1892+51447C>T
c.1892+51447C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36845413
chr21:36845416 T
T
 C
C
 7 a0001c0001t0002g0193
a0001c0001t0005g0052
a0001c0001t0029g0051
others(4): Show 
a0001c0001t0002g0193
a0001c0001t0005g0052
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0038g0054
a0001c0001t0105g0053
a0001c0001t0107g0050
 7 HG01884.hp2
HG02572.hp1
HG02809.hp1
others(4): Show 
HG01884.hp2
HG02572.hp1
HG02809.hp1
HG02818.hp2
HG02922.hp2
HG03453.hp2
NA19043.hp1
 intron_variant MODIFIER c.1892+51444A>G
c.1892+51444A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36845416
chr21:36845526 C
C
 A
A
 6 a0001c0001t0013g0223
a0001c0001t0018g0189
a0001c0001t0024g0191
others(3): Show 
a0001c0001t0013g0223
a0001c0001t0018g0189
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0004t0017g0219
a0001c0004t0017g0220
 6 HG01952.hp2
HG02896.hp1
HG02897.hp2
others(3): Show 
HG01952.hp2
HG02896.hp1
HG02897.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp2
 intron_variant MODIFIER c.1892+51334G>T
c.1892+51334G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36845526
chr21:36845538 A
A
 C
C
 21 a0001c0001t0002g0193
a0001c0001t0005g0052
a0001c0001t0010g0213
others(18): Show 
a0001c0001t0002g0193
a0001c0001t0005g0052
a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0018g0176
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0038g0054
a0001c0001t0063g0208
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0004t0004g0046
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
a0002c0002t0043g0152
a0003c0005t0002g0195
a0003c0005t0027g0218
a0005c0011t0033g0139
 21 HG01884.hp2
HG02145.hp1
HG02280.hp1
others(18): Show 
HG01884.hp2
HG02145.hp1
HG02280.hp1
HG02572.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03195.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03579.hp1
NA19043.hp1
NA19043.hp2
NA20129.hp1
 intron_variant MODIFIER c.1892+51322T>G
c.1892+51322T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36845538
chr21:36845555 G
G
 C
C
 1 a0001c0001t0008g0078
a0001c0001t0008g0078
 1 HG03927.hp1
HG03927.hp1
 intron_variant MODIFIER c.1892+51305C>G
c.1892+51305C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36845555
chr21:36845634 T
T
 C
C
 1 a0001c0004t0072g0248
a0001c0004t0072g0248
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.1892+51226A>G
c.1892+51226A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36845634
chr21:36845674 G
G
 A
A
 4 a0001c0001t0015g0141
a0001c0004t0004g0046
a0003c0005t0002g0195
others(1): Show 
a0001c0001t0015g0141
a0001c0004t0004g0046
a0003c0005t0002g0195
a0003c0005t0027g0218
 4 HG02818.hp1
HG03453.hp1
HG03579.hp1
others(1): Show 
HG02818.hp1
HG03453.hp1
HG03579.hp1
NA20129.hp1
 intron_variant MODIFIER c.1892+51186C>T
c.1892+51186C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36845674
chr21:36845736 T
T
 C
C
 1 a0001c0001t0019g0101
a0001c0001t0019g0101
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.1892+51124A>G
c.1892+51124A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36845736
chr21:36845863 G
G
 A
A
 1 a0001c0004t0042g0209
a0001c0004t0042g0209
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.1892+50997C>T
c.1892+50997C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36845863
chr21:36845889 G
G
 T
T
 1 a0001c0001t0001g0010
a0001c0001t0001g0010
 1 NA18959.hp2
NA18959.hp2
 intron_variant MODIFIER c.1892+50971C>A
c.1892+50971C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36845889
chr21:36846025 C
C
 A
A
 1 a0001c0001t0005g0056
a0001c0001t0005g0056
 1 NA18942.hp1
NA18942.hp1
 intron_variant MODIFIER c.1892+50835G>T
c.1892+50835G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36846025
chr21:36846268 C
C
 T
T
 1 a0001c0001t0028g0167
a0001c0001t0028g0167
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.1892+50592G>A
c.1892+50592G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36846268
chr21:36846870 G
G
 C
C
 1 a0001c0004t0042g0209
a0001c0004t0042g0209
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.1892+49990C>G
c.1892+49990C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36846870
chr21:36846890 A
A
 G
G
 149 a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0001g0128
others(146): Show 
a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0018
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0107
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0098
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0047g0188
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0069g0255
a0001c0001t0073g0246
a0001c0001t0075g0049
a0001c0001t0078g0108
a0001c0001t0081g0016
a0001c0001t0085g0110
a0001c0001t0090g0005
a0001c0001t0093g0133
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0043g0152
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 149 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(146): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.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.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18959.hp2
NA18961.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp2
NA18975.hp1
NA18979.hp1
NA18984.hp1
NA18993.hp2
NA19004.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19084.hp1
NA19240.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+49970T>C
c.1892+49970T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36846890
chr21:36846926 G
G
 T
T
 1 a0001c0001t0071g0089
a0001c0001t0071g0089
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.1892+49934C>A
c.1892+49934C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36846926
chr21:36846981 G
G
 A
A
 1 a0001c0001t0028g0167
a0001c0001t0028g0167
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.1892+49879C>T
c.1892+49879C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36846981
chr21:36847201 G
G
 A
A
 11 a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
others(8): Show 
a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0018g0176
a0001c0001t0063g0208
a0001c0004t0004g0046
a0002c0002t0043g0152
a0003c0005t0002g0195
a0003c0005t0027g0218
a0005c0011t0033g0139
 11 HG02280.hp1
HG02723.hp2
HG02818.hp1
others(8): Show 
HG02280.hp1
HG02723.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02965.hp1
HG02976.hp2
HG03453.hp1
HG03471.hp1
HG03579.hp1
NA20129.hp1
 intron_variant MODIFIER c.1892+49659C>T
c.1892+49659C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36847201
chr21:36847231 T
T
 C
C
 13 a0001c0001t0004g0138
a0001c0001t0008g0018
a0001c0001t0011g0107
others(10): Show 
a0001c0001t0004g0138
a0001c0001t0008g0018
a0001c0001t0011g0107
a0001c0001t0047g0188
a0001c0001t0065g0252
a0001c0001t0078g0108
a0001c0001t0106g0253
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0015g0142
a0002c0002t0027g0157
a0003c0005t0058g0214
 13 HG01175.hp1
HG02135.hp2
HG02602.hp1
others(10): Show 
HG01175.hp1
HG02135.hp2
HG02602.hp1
HG02622.hp2
HG02723.hp1
HG02895.hp2
HG03041.hp2
HG03239.hp1
HG03540.hp2
NA18939.hp2
NA18942.hp2
NA18951.hp1
NA18961.hp1
 intron_variant MODIFIER c.1892+49629A>G
c.1892+49629A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36847231
chr21:36847243 C
C
 T
T
 122 a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0001g0128
others(119): Show 
a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0015
a0001c0001t0004g0138
a0001c0001t0005g0021
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0018
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0107
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0098
a0001c0001t0018g0176
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0037g0254
a0001c0001t0038g0102
a0001c0001t0047g0188
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0075g0049
a0001c0001t0078g0108
a0001c0001t0081g0016
a0001c0001t0090g0005
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0106g0253
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0004g0046
a0001c0004t0042g0209
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0027g0157
a0002c0002t0043g0152
a0002c0002t0062g0145
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 122 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(119): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01496.hp1
HG01975.hp1
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02523.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG04228.hp2
NA18522.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18959.hp2
NA18961.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp2
NA18975.hp1
NA18979.hp1
NA18984.hp1
NA18993.hp2
NA19004.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19068.hp2
NA19084.hp1
NA19240.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+49617G>A
c.1892+49617G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36847243
chr21:36847338 C
C
 T
T
 5 a0001c0001t0018g0189
a0001c0001t0024g0191
a0001c0001t0024g0211
others(2): Show 
a0001c0001t0018g0189
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0004t0017g0219
a0001c0004t0017g0220
 5 HG01952.hp2
HG02896.hp1
HG02897.hp2
others(2): Show 
HG01952.hp2
HG02896.hp1
HG02897.hp2
HG03098.hp2
HG03225.hp2
 intron_variant MODIFIER c.1892+49522G>A
c.1892+49522G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36847338
chr21:36847547 TA
TA
 T
T
 7 a0001c0001t0002g0193
a0001c0001t0005g0052
a0001c0001t0029g0051
others(4): Show 
a0001c0001t0002g0193
a0001c0001t0005g0052
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0038g0054
a0001c0001t0105g0053
a0001c0001t0107g0050
 7 HG01884.hp2
HG02572.hp1
HG02809.hp1
others(4): Show 
HG01884.hp2
HG02572.hp1
HG02809.hp1
HG02818.hp2
HG02922.hp2
HG03453.hp2
NA19043.hp1
 intron_variant MODIFIER c.1892+49312delT
c.1892+49312delT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36847547
chr21:36847548 A
A
 T
T
 8 a0001c0001t0018g0189
a0001c0001t0022g0187
a0001c0001t0024g0191
others(5): Show 
a0001c0001t0018g0189
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0069g0255
a0001c0001t0093g0133
a0001c0004t0017g0219
a0001c0004t0017g0220
 8 HG01099.hp2
HG01884.hp1
HG01952.hp2
others(5): Show 
HG01099.hp2
HG01884.hp1
HG01952.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG03098.hp2
HG03225.hp2
 intron_variant MODIFIER c.1892+49312T>A
c.1892+49312T>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36847548
chr21:36847653 C
C
 G
G
 2 a0001c0001t0019g0061
a0001c0001t0031g0057
a0001c0001t0019g0061
a0001c0001t0031g0057
 2 HG01109.hp1
HG02717.hp1
HG01109.hp1
HG02717.hp1
 intron_variant MODIFIER c.1892+49207G>C
c.1892+49207G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36847653
chr21:36847775 T
T
 A
A
 6 a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0001t0085g0110
others(3): Show 
a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0001t0085g0110
a0001c0004t0067g0067
a0001c0004t0068g0088
a0002c0002t0025g0149
 6 HG01891.hp1
HG02559.hp1
HG03195.hp2
others(3): Show 
HG01891.hp1
HG02559.hp1
HG03195.hp2
HG03516.hp1
HG06807.hp1
HG06807.hp2
 intron_variant MODIFIER c.1892+49085A>T
c.1892+49085A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36847775
chr21:36848054 T
T
 C
C
 13 a0001c0001t0002g0174
a0001c0001t0003g0226
a0001c0001t0005g0021
others(10): Show 
a0001c0001t0002g0174
a0001c0001t0003g0226
a0001c0001t0005g0021
a0001c0001t0005g0056
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0007t0007g0200
a0001c0007t0012g0207
a0008c0012t0035g0069
 13 HG00323.hp1
HG01106.hp1
HG01109.hp2
others(10): Show 
HG00323.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01256.hp2
HG01258.hp2
HG02257.hp1
HG03669.hp1
NA18940.hp1
NA18942.hp1
NA18950.hp1
NA18984.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+48806A>G
c.1892+48806A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36848054
chr21:36848087 C
C
 T
T
 7 a0001c0001t0002g0193
a0001c0001t0005g0052
a0001c0001t0029g0051
others(4): Show 
a0001c0001t0002g0193
a0001c0001t0005g0052
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0038g0054
a0001c0001t0105g0053
a0001c0001t0107g0050
 7 HG01884.hp2
HG02572.hp1
HG02809.hp1
others(4): Show 
HG01884.hp2
HG02572.hp1
HG02809.hp1
HG02818.hp2
HG02922.hp2
HG03453.hp2
NA19043.hp1
 intron_variant MODIFIER c.1892+48773G>A
c.1892+48773G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36848087
chr21:36848126 T
T
 C
C
 38 a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0002g0193
others(35): Show 
a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0138
a0001c0001t0005g0052
a0001c0001t0005g0115
a0001c0001t0008g0078
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0016g0098
a0001c0001t0019g0061
a0001c0001t0020g0002
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0038g0054
a0001c0001t0051g0168
a0001c0001t0057g0225
a0001c0001t0073g0246
a0001c0001t0085g0110
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0018t0004g0060
a0002c0002t0025g0149
 38 HG01109.hp1
HG01175.hp1
HG01884.hp2
others(35): Show 
HG01109.hp1
HG01175.hp1
HG01884.hp2
HG01891.hp1
HG02080.hp1
HG02129.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02622.hp1
HG02717.hp1
HG02809.hp1
HG02818.hp2
HG02896.hp2
HG02922.hp2
HG02965.hp2
HG03130.hp1
HG03195.hp2
HG03453.hp2
HG03516.hp1
HG03710.hp2
HG03927.hp1
HG04115.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18939.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp2
NA18952.hp2
NA18959.hp2
NA18971.hp2
NA18979.hp1
NA19004.hp1
NA19009.hp2
NA19043.hp1
NA19084.hp1
 intron_variant MODIFIER c.1892+48734A>G
c.1892+48734A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36848126
chr21:36848271 G
G
 GT
GT
 67 a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
others(64): Show 
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0183
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0004g0015
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0019g0247
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0030g0048
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0038g0102
a0001c0001t0039g0126
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0061g0163
a0001c0001t0066g0059
a0001c0001t0075g0049
a0001c0001t0081g0016
a0001c0001t0087g0095
a0001c0001t0090g0005
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0111g0137
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0002c0002t0018g0153
a0002c0002t0041g0148
a0002c0002t0048g0144
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 67 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(64): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00639.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01496.hp1
HG01975.hp1
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02300.hp2
HG02572.hp2
HG02615.hp1
HG02647.hp1
HG02717.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp1
HG03130.hp2
HG03209.hp1
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp2
HG04204.hp2
NA18522.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18942.hp1
NA18944.hp1
NA18951.hp2
NA18967.hp1
NA18970.hp1
NA18975.hp1
NA18984.hp1
NA18989.hp2
NA18993.hp2
NA19030.hp2
NA19068.hp2
NA19240.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+48588dupA
c.1892+48588dupA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36848271
chr21:36848271 GT
GT
 G
G
 27 a0001c0001t0008g0018
a0001c0001t0010g0213
a0001c0001t0011g0107
others(24): Show 
a0001c0001t0008g0018
a0001c0001t0010g0213
a0001c0001t0011g0107
a0001c0001t0013g0223
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0028g0167
a0001c0001t0031g0057
a0001c0001t0037g0254
a0001c0001t0047g0188
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0078g0108
a0001c0001t0106g0253
a0001c0004t0004g0046
a0001c0004t0042g0209
a0001c0004t0072g0248
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0027g0157
a0002c0002t0062g0145
 27 HG00735.hp1
HG01109.hp1
HG02109.hp2
others(24): Show 
HG00735.hp1
HG01109.hp1
HG02109.hp2
HG02135.hp2
HG02280.hp1
HG02280.hp2
HG02602.hp1
HG02622.hp2
HG02717.hp1
HG02723.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03471.hp2
NA18939.hp2
NA18942.hp2
NA18951.hp1
NA18961.hp1
NA19030.hp1
 intron_variant MODIFIER c.1892+48588delA
c.1892+48588delA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36848271
chr21:36848394 G
G
 C
C
 233 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(230): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0029
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0075g0049
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0103g0100
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 233 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(230): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp2
HG02040.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18945.hp1
NA18945.hp2
NA18947.hp2
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1892+48466C>G
c.1892+48466C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36848394
chr21:36848567 C
C
 A
A
 55 a0001c0001t0001g0006
a0001c0001t0001g0017
a0001c0001t0001g0024
others(52): Show 
a0001c0001t0001g0006
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0032
a0001c0001t0004g0058
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0094
a0001c0001t0006g0012
a0001c0001t0006g0029
a0001c0001t0007g0194
a0001c0001t0008g0055
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0012g0234
a0001c0001t0014g0241
a0001c0001t0016g0047
a0001c0001t0020g0034
a0001c0001t0021g0130
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0039g0033
a0001c0001t0049g0233
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0091g0042
a0001c0001t0094g0031
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0110g0023
a0001c0003t0007g0210
a0001c0003t0050g0206
a0001c0008t0008g0001
a0002c0002t0002g0143
a0004c0019t0112g0258
 55 HG00280.hp1
HG00438.hp1
HG00639.hp2
others(52): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp2
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG01081.hp2
HG01099.hp1
HG01123.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01515.hp1
HG01516.hp1
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp2
HG02080.hp2
HG02083.hp1
HG02129.hp2
HG02300.hp1
HG02602.hp2
HG02683.hp1
HG03239.hp2
HG03710.hp1
HG03831.hp2
HG04115.hp1
HG04204.hp1
HG04228.hp1
NA18940.hp2
NA18941.hp1
NA18945.hp1
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18971.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18993.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19088.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1892+48293G>T
c.1892+48293G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36848567
chr21:36848735 A
A
 T
T
 1 a0001c0001t0013g0223
a0001c0001t0013g0223
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.1892+48125T>A
c.1892+48125T>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36848735
chr21:36848791 A
A
 G
G
 24 a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0002g0232
others(21): Show 
a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0138
a0001c0001t0005g0115
a0001c0001t0006g0132
a0001c0001t0008g0078
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0016g0098
a0001c0001t0020g0002
a0001c0001t0051g0168
a0001c0001t0057g0225
a0001c0001t0109g0119
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0018t0004g0060
 24 HG01175.hp1
HG02080.hp1
HG02129.hp1
others(21): Show 
HG01175.hp1
HG02080.hp1
HG02129.hp1
HG02523.hp2
HG02622.hp1
HG02896.hp2
HG02965.hp2
HG02976.hp1
HG03130.hp1
HG03710.hp2
HG03927.hp1
HG04115.hp2
HG04228.hp2
NA18939.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp2
NA18952.hp2
NA18959.hp2
NA18971.hp2
NA18979.hp1
NA19004.hp1
NA19009.hp2
NA19084.hp1
 intron_variant MODIFIER c.1892+48069T>C
c.1892+48069T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36848791
chr21:36848822 T
T
 G
G
 59 a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0002g0232
others(56): Show 
a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0138
a0001c0001t0005g0115
a0001c0001t0006g0132
a0001c0001t0008g0018
a0001c0001t0008g0078
a0001c0001t0010g0213
a0001c0001t0011g0107
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0098
a0001c0001t0018g0176
a0001c0001t0019g0101
a0001c0001t0020g0002
a0001c0001t0028g0167
a0001c0001t0037g0254
a0001c0001t0047g0188
a0001c0001t0051g0168
a0001c0001t0057g0225
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0078g0108
a0001c0001t0106g0253
a0001c0001t0109g0119
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0004g0046
a0001c0004t0042g0209
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0025g0146
a0002c0002t0027g0157
a0002c0002t0043g0152
a0002c0002t0062g0145
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0005c0011t0033g0139
 59 HG00735.hp1
HG01175.hp1
HG02080.hp1
others(56): Show 
HG00735.hp1
HG01175.hp1
HG02080.hp1
HG02109.hp2
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02523.hp2
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03540.hp2
HG03579.hp1
HG03710.hp2
HG03927.hp1
HG04115.hp2
HG04228.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp2
NA18947.hp2
NA18948.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp2
NA18959.hp2
NA18961.hp1
NA18971.hp2
NA18979.hp1
NA19004.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp2
NA19084.hp1
NA20129.hp1
 intron_variant MODIFIER c.1892+48038A>C
c.1892+48038A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36848822
chr21:36848824 T
T
 C
C
 5 a0001c0001t0013g0223
a0001c0001t0037g0254
a0002c0002t0013g0147
others(2): Show 
a0001c0001t0013g0223
a0001c0001t0037g0254
a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0062g0145
 5 HG02109.hp2
HG02280.hp2
HG03098.hp1
others(2): Show 
HG02109.hp2
HG02280.hp2
HG03098.hp1
HG03139.hp2
HG03209.hp2
 intron_variant MODIFIER c.1892+48036A>G
c.1892+48036A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36848824
chr21:36848874 C
C
 T
T
 1 a0002c0002t0064g0243
a0002c0002t0064g0243
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.1892+47986G>A
c.1892+47986G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36848874
chr21:36849033 G
G
 A
A
 149 a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0001g0128
others(146): Show 
a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0015
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0018
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0107
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0098
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0047g0188
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0069g0255
a0001c0001t0073g0246
a0001c0001t0075g0049
a0001c0001t0078g0108
a0001c0001t0081g0016
a0001c0001t0085g0110
a0001c0001t0090g0005
a0001c0001t0093g0133
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0043g0152
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 149 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(146): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.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.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18959.hp2
NA18961.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp1
NA18971.hp2
NA18975.hp1
NA18979.hp1
NA18984.hp1
NA18993.hp2
NA19004.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19084.hp1
NA19240.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+47827C>T
c.1892+47827C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36849033
chr21:36849088 A
A
 G
G
 1 a0001c0001t0006g0132
a0001c0001t0006g0132
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.1892+47772T>C
c.1892+47772T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36849088
chr21:36849207 G
G
 A
A
 5 a0001c0001t0013g0223
a0001c0001t0037g0254
a0002c0002t0013g0147
others(2): Show 
a0001c0001t0013g0223
a0001c0001t0037g0254
a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0062g0145
 5 HG02109.hp2
HG02280.hp2
HG03098.hp1
others(2): Show 
HG02109.hp2
HG02280.hp2
HG03098.hp1
HG03139.hp2
HG03209.hp2
 intron_variant MODIFIER c.1892+47653C>T
c.1892+47653C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36849207
chr21:36849333 T
T
 C
C
 2 a0001c0001t0019g0061
a0001c0001t0031g0057
a0001c0001t0019g0061
a0001c0001t0031g0057
 2 HG01109.hp1
HG02717.hp1
HG01109.hp1
HG02717.hp1
 intron_variant MODIFIER c.1892+47527A>G
c.1892+47527A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36849333
chr21:36849521 G
G
 A
A
 5 a0001c0001t0013g0223
a0001c0001t0037g0254
a0002c0002t0013g0147
others(2): Show 
a0001c0001t0013g0223
a0001c0001t0037g0254
a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0062g0145
 5 HG02109.hp2
HG02280.hp2
HG03098.hp1
others(2): Show 
HG02109.hp2
HG02280.hp2
HG03098.hp1
HG03139.hp2
HG03209.hp2
 intron_variant MODIFIER c.1892+47339C>T
c.1892+47339C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36849521
chr21:36849613 G
G
 A
A
 3 a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
 3 HG02145.hp1
HG03195.hp1
NA19043.hp2
HG02145.hp1
HG03195.hp1
NA19043.hp2
 intron_variant MODIFIER c.1892+47247C>T
c.1892+47247C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36849613
chr21:36849675 C
C
 T
T
 5 a0001c0001t0013g0223
a0001c0001t0037g0254
a0002c0002t0013g0147
others(2): Show 
a0001c0001t0013g0223
a0001c0001t0037g0254
a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0062g0145
 5 HG02109.hp2
HG02280.hp2
HG03098.hp1
others(2): Show 
HG02109.hp2
HG02280.hp2
HG03098.hp1
HG03139.hp2
HG03209.hp2
 intron_variant MODIFIER c.1892+47185G>A
c.1892+47185G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36849675
chr21:36849677 G
G
 C
C
 1 a0001c0018t0004g0060
a0001c0018t0004g0060
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.1892+47183C>G
c.1892+47183C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36849677
chr21:36849730 T
T
 A
A
 2 a0001c0001t0019g0061
a0001c0001t0031g0057
a0001c0001t0019g0061
a0001c0001t0031g0057
 2 HG01109.hp1
HG02717.hp1
HG01109.hp1
HG02717.hp1
 intron_variant MODIFIER c.1892+47130A>T
c.1892+47130A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36849730
chr21:36849737 G
G
 A
A
 5 a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0004g0032
others(2): Show 
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0004g0032
a0001c0001t0084g0075
a0001c0001t0100g0073
 5 HG00280.hp1
HG01123.hp2
HG01169.hp2
others(2): Show 
HG00280.hp1
HG01123.hp2
HG01169.hp2
HG01515.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1892+47123C>T
c.1892+47123C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36849737
chr21:36850267 A
A
 G
G
 1 a0001c0001t0001g0028
a0001c0001t0001g0028
 1 HG02129.hp2
HG02129.hp2
 intron_variant MODIFIER c.1892+46593T>C
c.1892+46593T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36850267
chr21:36850334 G
G
 A
A
 2 a0001c0001t0065g0252
a0001c0001t0106g0253
a0001c0001t0065g0252
a0001c0001t0106g0253
 2 HG02622.hp2
HG03041.hp2
HG02622.hp2
HG03041.hp2
 intron_variant MODIFIER c.1892+46526C>T
c.1892+46526C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36850334
chr21:36850444 T
T
 C
C
 237 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(234): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0029
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0021g0076
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0103g0100
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 237 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(234): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp2
HG02040.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18945.hp1
NA18945.hp2
NA18947.hp2
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1892+46416A>G
c.1892+46416A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36850444
chr21:36850482 C
C
 G
G
 4 a0001c0001t0037g0254
a0002c0002t0013g0147
a0002c0002t0025g0146
others(1): Show 
a0001c0001t0037g0254
a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0062g0145
 4 HG02109.hp2
HG02280.hp2
HG03139.hp2
others(1): Show 
HG02109.hp2
HG02280.hp2
HG03139.hp2
HG03209.hp2
 intron_variant MODIFIER c.1892+46378G>C
c.1892+46378G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36850482
chr21:36850517 T
T
 G
G
 21 a0001c0001t0001g0006
a0001c0001t0001g0043
a0001c0001t0001g0074
others(18): Show 
a0001c0001t0001g0006
a0001c0001t0001g0043
a0001c0001t0001g0074
a0001c0001t0002g0174
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0032
a0001c0001t0006g0132
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0083g0013
a0001c0001t0101g0008
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0008t0008g0001
a0002c0002t0043g0152
a0004c0019t0112g0258
a0005c0011t0033g0139
a0007c0014t0070g0131
 21 HG00738.hp1
HG00741.hp1
HG01081.hp2
others(18): Show 
HG00738.hp1
HG00741.hp1
HG01081.hp2
HG01169.hp2
HG01243.hp2
HG01256.hp1
HG01515.hp1
HG01516.hp1
HG01952.hp2
HG01981.hp2
HG02300.hp1
HG02886.hp2
HG02896.hp1
HG02897.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp2
HG03225.hp2
HG03471.hp1
HG04228.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+46343A>C
c.1892+46343A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36850517
chr21:36850560 C
C
 T
T
 1 a0001c0001t0013g0223
a0001c0001t0013g0223
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.1892+46300G>A
c.1892+46300G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36850560
chr21:36850572 C
C
 T
T
 18 a0001c0001t0002g0193
a0001c0001t0005g0052
a0001c0001t0010g0213
others(15): Show 
a0001c0001t0002g0193
a0001c0001t0005g0052
a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0038g0054
a0001c0001t0047g0188
a0001c0001t0063g0208
a0001c0001t0099g0124
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0004t0004g0046
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0092g0134
 18 HG01175.hp2
HG01884.hp2
HG02280.hp1
others(15): Show 
HG01175.hp2
HG01884.hp2
HG02280.hp1
HG02572.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG03453.hp1
HG03453.hp2
HG03579.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp1
 intron_variant MODIFIER c.1892+46288G>A
c.1892+46288G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36850572
chr21:36850597 C
C
 T
T
 2 a0002c0002t0013g0147
a0002c0002t0045g0151
a0002c0002t0013g0147
a0002c0002t0045g0151
 2 HG03139.hp2
NA18522.hp1
HG03139.hp2
NA18522.hp1
 intron_variant MODIFIER c.1892+46263G>A
c.1892+46263G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36850597
chr21:36850614 CCT
CCT
 C
C
 24 a0001c0001t0002g0193
a0001c0001t0005g0052
a0001c0001t0006g0132
others(21): Show 
a0001c0001t0002g0193
a0001c0001t0005g0052
a0001c0001t0006g0132
a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0038g0054
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0063g0208
a0001c0001t0071g0089
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0004t0004g0046
a0001c0004t0017g0224
a0002c0002t0048g0144
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0092g0134
 24 HG01175.hp2
HG01884.hp2
HG02280.hp1
others(21): Show 
HG01175.hp2
HG01884.hp2
HG02280.hp1
HG02486.hp2
HG02572.hp1
HG02647.hp2
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03139.hp1
HG03453.hp1
HG03453.hp2
HG03516.hp2
HG03579.hp1
NA19043.hp1
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.1892+46244_1892+46
others(8): Show 
c.1892+46244_1892+46245delAG
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36850614
chr21:36850617 G
G
 A
A
 1 a0001c0001t0109g0119
a0001c0001t0109g0119
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.1892+46243C>T
c.1892+46243C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36850617
chr21:36850711 G
G
 A
A
 3 a0001c0001t0019g0061
a0001c0001t0031g0057
a0002c0002t0046g0150
a0001c0001t0019g0061
a0001c0001t0031g0057
a0002c0002t0046g0150
 3 HG01109.hp1
HG02717.hp1
HG03579.hp2
HG01109.hp1
HG02717.hp1
HG03579.hp2
 intron_variant MODIFIER c.1892+46149C>T
c.1892+46149C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36850711
chr21:36850899 G
G
 A
A
 12 a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0037g0254
others(9): Show 
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0037g0254
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0041g0148
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
 12 HG00639.hp1
HG01109.hp1
HG02109.hp2
others(9): Show 
HG00639.hp1
HG01109.hp1
HG02109.hp2
HG02145.hp1
HG02280.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03516.hp2
HG03579.hp2
NA19030.hp1
NA19043.hp2
 intron_variant MODIFIER c.1892+45961C>T
c.1892+45961C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36850899
chr21:36850914 C
C
 G
G
 4 a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
others(1): Show 
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
a0002c0002t0048g0144
 4 HG02145.hp1
HG03195.hp1
HG03516.hp2
others(1): Show 
HG02145.hp1
HG03195.hp1
HG03516.hp2
NA19043.hp2
 intron_variant MODIFIER c.1892+45946G>C
c.1892+45946G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36850914
chr21:36850994 G
G
 C
C
 5 a0001c0001t0010g0213
a0001c0001t0015g0190
a0001c0001t0015g0197
others(2): Show 
a0001c0001t0010g0213
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0047g0188
a0001c0001t0063g0208
 5 HG02280.hp1
HG02723.hp2
HG02886.hp1
others(2): Show 
HG02280.hp1
HG02723.hp2
HG02886.hp1
HG02895.hp2
HG02965.hp1
 intron_variant MODIFIER c.1892+45866C>G
c.1892+45866C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36850994
chr21:36851072 C
C
 T
T
 3 a0001c0001t0037g0254
a0002c0002t0025g0146
a0002c0002t0041g0148
a0001c0001t0037g0254
a0002c0002t0025g0146
a0002c0002t0041g0148
 3 HG00639.hp1
HG02109.hp2
HG02280.hp2
HG00639.hp1
HG02109.hp2
HG02280.hp2
 intron_variant MODIFIER c.1892+45788G>A
c.1892+45788G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36851072
chr21:36851107 G
G
 A
A
 6 a0001c0001t0037g0254
a0002c0002t0013g0147
a0002c0002t0025g0146
others(3): Show 
a0001c0001t0037g0254
a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0041g0148
a0002c0002t0048g0144
a0002c0002t0062g0145
 6 HG00639.hp1
HG02109.hp2
HG02280.hp2
others(3): Show 
HG00639.hp1
HG02109.hp2
HG02280.hp2
HG03139.hp2
HG03209.hp2
HG03516.hp2
 intron_variant MODIFIER c.1892+45753C>T
c.1892+45753C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36851107
chr21:36851281 C
C
 T
T
 2 a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0219
a0001c0004t0017g0220
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 intron_variant MODIFIER c.1892+45579G>A
c.1892+45579G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36851281
chr21:36851454 A
A
 G
G
 7 a0001c0001t0037g0254
a0002c0002t0013g0147
a0002c0002t0025g0146
others(4): Show 
a0001c0001t0037g0254
a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0062g0145
a0002c0002t0064g0243
 7 HG00639.hp1
HG02109.hp2
HG02280.hp2
others(4): Show 
HG00639.hp1
HG02109.hp2
HG02280.hp2
HG02559.hp2
HG03041.hp1
HG03139.hp2
HG03209.hp2
 intron_variant MODIFIER c.1892+45406T>C
c.1892+45406T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36851454
chr21:36851555 G
G
 A
A
 2 a0001c0001t0006g0132
a0001c0001t0028g0192
a0001c0001t0006g0132
a0001c0001t0028g0192
 2 HG02976.hp1
HG03139.hp1
HG02976.hp1
HG03139.hp1
 intron_variant MODIFIER c.1892+45305C>T
c.1892+45305C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36851555
chr21:36851561 T
T
 C
C
 1 a0001c0001t0003g0226
a0001c0001t0003g0226
 1 NA18984.hp1
NA18984.hp1
 intron_variant MODIFIER c.1892+45299A>G
c.1892+45299A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36851561
chr21:36851763 T
T
 C
C
 26 a0001c0001t0001g0010
a0001c0001t0002g0232
a0001c0001t0002g0237
others(23): Show 
a0001c0001t0001g0010
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0015
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0018g0176
a0001c0001t0030g0048
a0001c0001t0038g0102
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0057g0225
a0001c0001t0075g0049
a0001c0001t0109g0119
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0013t0022g0177
a0001c0015t0052g0239
a0002c0002t0048g0144
a0008c0012t0035g0069
 26 HG00741.hp2
HG01243.hp1
HG02080.hp1
others(23): Show 
HG00741.hp2
HG01243.hp1
HG02080.hp1
HG02109.hp1
HG02129.hp1
HG02572.hp2
HG02886.hp2
HG02896.hp2
HG02965.hp2
HG03130.hp1
HG03516.hp2
HG03710.hp2
HG04115.hp2
HG04228.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18947.hp2
NA18950.hp2
NA18959.hp2
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19084.hp1
 intron_variant MODIFIER c.1892+45097A>G
c.1892+45097A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36851763
chr21:36851921 G
G
 A
A
 2 a0002c0002t0040g0242
a0002c0002t0064g0243
a0002c0002t0040g0242
a0002c0002t0064g0243
 2 HG02559.hp2
HG03041.hp1
HG02559.hp2
HG03041.hp1
 intron_variant MODIFIER c.1892+44939C>T
c.1892+44939C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36851921
chr21:36852015 G
G
 A
A
 5 a0001c0001t0001g0128
a0001c0001t0002g0172
a0001c0001t0002g0183
others(2): Show 
a0001c0001t0001g0128
a0001c0001t0002g0172
a0001c0001t0002g0183
a0001c0001t0014g0181
a0001c0001t0014g0182
 5 HG01070.hp2
HG01071.hp2
HG01168.hp2
others(2): Show 
HG01070.hp2
HG01071.hp2
HG01168.hp2
HG01169.hp1
HG02300.hp2
 intron_variant MODIFIER c.1892+44845C>T
c.1892+44845C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36852015
chr21:36852064 T
T
 C
C
 2 a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0002g0195
a0003c0005t0027g0218
 2 HG03579.hp1
NA20129.hp1
HG03579.hp1
NA20129.hp1
 intron_variant MODIFIER c.1892+44796A>G
c.1892+44796A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36852064
chr21:36852237 C
C
 T
T
 145 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(142): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0007
a0001c0001t0004g0014
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0022g0187
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0257
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0071g0089
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0099g0124
a0001c0001t0101g0008
a0001c0001t0103g0100
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 145 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(142): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00639.hp1
HG00735.hp1
HG00738.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02080.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp2
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18947.hp2
NA18950.hp2
NA18959.hp1
NA18959.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19074.hp2
NA19084.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+44623G>A
c.1892+44623G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36852237
chr21:36852290 T
T
 C
C
 78 a0001c0001t0001g0010
a0001c0001t0002g0165
a0001c0001t0002g0174
others(75): Show 
a0001c0001t0001g0010
a0001c0001t0002g0165
a0001c0001t0002g0174
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0045
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0006g0132
a0001c0001t0007g0194
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0213
a0001c0001t0010g0249
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0018g0176
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0022g0187
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0038g0054
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0063g0208
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0005c0011t0033g0139
a0008c0012t0035g0069
 78 HG00323.hp1
HG00639.hp1
HG00735.hp1
others(75): Show 
HG00323.hp1
HG00639.hp1
HG00735.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01978.hp1
HG02080.hp1
HG02129.hp1
HG02145.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02647.hp2
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03710.hp2
HG03831.hp2
HG04115.hp2
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18947.hp2
NA18950.hp2
NA18959.hp2
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19084.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+44570A>G
c.1892+44570A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36852290
chr21:36852347 A
A
 G
G
 143 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(140): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0007
a0001c0001t0004g0014
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0022g0187
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0257
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0071g0089
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0099g0124
a0001c0001t0101g0008
a0001c0001t0103g0100
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 143 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(140): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00639.hp1
HG00735.hp1
HG00738.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02080.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp2
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18947.hp2
NA18950.hp2
NA18959.hp1
NA18959.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19074.hp2
NA19084.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+44513T>C
c.1892+44513T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36852347
chr21:36852348 T
T
 G
G
 143 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(140): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0007
a0001c0001t0004g0014
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0022g0187
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0257
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0071g0089
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0099g0124
a0001c0001t0101g0008
a0001c0001t0103g0100
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 143 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(140): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00639.hp1
HG00735.hp1
HG00738.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02080.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp2
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18947.hp2
NA18950.hp2
NA18959.hp1
NA18959.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19074.hp2
NA19084.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+44512A>C
c.1892+44512A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36852348
chr21:36852630 C
C
 T
T
 2 a0001c0001t0065g0252
a0001c0001t0106g0253
a0001c0001t0065g0252
a0001c0001t0106g0253
 2 HG02622.hp2
HG03041.hp2
HG02622.hp2
HG03041.hp2
 intron_variant MODIFIER c.1892+44230G>A
c.1892+44230G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36852630
chr21:36852801 C
C
 A
A
 6 a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
others(3): Show 
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0041g0148
a0002c0002t0045g0151
a0002c0002t0062g0145
 6 HG00639.hp1
HG02280.hp2
HG03139.hp2
others(3): Show 
HG00639.hp1
HG02280.hp2
HG03139.hp2
HG03209.hp2
NA18522.hp1
NA18522.hp2
 intron_variant MODIFIER c.1892+44059G>T
c.1892+44059G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36852801
chr21:36853051 T
T
 C
C
 22 a0001c0001t0001g0010
a0001c0001t0002g0232
a0001c0001t0002g0237
others(19): Show 
a0001c0001t0001g0010
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0018g0176
a0001c0001t0019g0101
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0057g0225
a0001c0001t0109g0119
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0013t0022g0177
a0001c0015t0052g0239
a0008c0012t0035g0069
 22 HG02080.hp1
HG02129.hp1
HG02886.hp2
others(19): Show 
HG02080.hp1
HG02129.hp1
HG02886.hp2
HG02896.hp2
HG02965.hp2
HG03130.hp1
HG03710.hp2
HG04115.hp2
HG04228.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18947.hp2
NA18950.hp2
NA18959.hp2
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19030.hp1
NA19084.hp1
 intron_variant MODIFIER c.1892+43809A>G
c.1892+43809A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36853051
chr21:36853499 T
T
 A
A
 1 a0001c0001t0055g0185
a0001c0001t0055g0185
 1 HG03492.hp2
HG03492.hp2
 intron_variant MODIFIER c.1892+43361A>T
c.1892+43361A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36853499
chr21:36853512 G
G
 A
A
 74 a0001c0001t0001g0010
a0001c0001t0002g0165
a0001c0001t0002g0174
others(71): Show 
a0001c0001t0001g0010
a0001c0001t0002g0165
a0001c0001t0002g0174
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0045
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0006g0132
a0001c0001t0007g0194
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0213
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0018g0176
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0022g0187
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0038g0054
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0063g0208
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0005c0011t0033g0139
a0008c0012t0035g0069
 74 HG00323.hp1
HG00639.hp1
HG00735.hp1
others(71): Show 
HG00323.hp1
HG00639.hp1
HG00735.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01978.hp1
HG02080.hp1
HG02129.hp1
HG02145.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03710.hp2
HG03831.hp2
HG04115.hp2
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18947.hp2
NA18950.hp2
NA18959.hp2
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19084.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+43348C>T
c.1892+43348C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36853512
chr21:36853826 T
T
 C
C
 14 a0001c0001t0002g0165
a0001c0001t0002g0174
a0001c0001t0007g0194
others(11): Show 
a0001c0001t0002g0165
a0001c0001t0002g0174
a0001c0001t0007g0194
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0007t0007g0200
a0001c0007t0012g0207
a0002c0002t0048g0144
a0005c0011t0033g0139
 14 HG00323.hp1
HG01106.hp1
HG01109.hp2
others(11): Show 
HG00323.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01978.hp1
HG02257.hp1
HG02976.hp2
HG03516.hp2
HG03669.hp1
HG03831.hp2
NA20805.hp2
 intron_variant MODIFIER c.1892+43034A>G
c.1892+43034A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36853826
chr21:36853915 T
T
 C
C
 2 a0001c0001t0016g0047
a0001c0001t0106g0253
a0001c0001t0016g0047
a0001c0001t0106g0253
 2 HG02622.hp2
HG03710.hp1
HG02622.hp2
HG03710.hp1
 intron_variant MODIFIER c.1892+42945A>G
c.1892+42945A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36853915
chr21:36853979 T
T
 C
C
 6 a0001c0001t0004g0045
a0001c0001t0022g0187
a0001c0004t0067g0067
others(3): Show 
a0001c0001t0004g0045
a0001c0001t0022g0187
a0001c0004t0067g0067
a0001c0004t0068g0088
a0002c0002t0040g0242
a0002c0002t0064g0243
 6 HG01884.hp1
HG01891.hp1
HG02486.hp1
others(3): Show 
HG01884.hp1
HG01891.hp1
HG02486.hp1
HG02559.hp2
HG03041.hp1
HG03195.hp2
 intron_variant MODIFIER c.1892+42881A>G
c.1892+42881A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36853979
chr21:36854114 T
T
 C
C
 78 a0001c0001t0001g0010
a0001c0001t0002g0165
a0001c0001t0002g0174
others(75): Show 
a0001c0001t0001g0010
a0001c0001t0002g0165
a0001c0001t0002g0174
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0045
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0006g0132
a0001c0001t0007g0194
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0213
a0001c0001t0010g0249
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0018g0176
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0022g0187
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0038g0054
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0063g0208
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0005c0011t0033g0139
a0008c0012t0035g0069
 78 HG00323.hp1
HG00639.hp1
HG00735.hp1
others(75): Show 
HG00323.hp1
HG00639.hp1
HG00735.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01978.hp1
HG02080.hp1
HG02129.hp1
HG02145.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02647.hp2
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03710.hp2
HG03831.hp2
HG04115.hp2
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18947.hp2
NA18950.hp2
NA18959.hp2
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19084.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+42746A>G
c.1892+42746A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36854114
chr21:36854358 C
C
 A
A
 2 a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0006t0023g0212
a0001c0006t0023g0222
 2 HG02145.hp1
NA19043.hp2
HG02145.hp1
NA19043.hp2
 intron_variant MODIFIER c.1892+42502G>T
c.1892+42502G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36854358
chr21:36854411 T
T
 C
C
 2 a0001c0001t0005g0021
a0001c0010t0011g0020
a0001c0001t0005g0021
a0001c0010t0011g0020
 2 NA18950.hp1
NA18970.hp1
NA18950.hp1
NA18970.hp1
 intron_variant MODIFIER c.1892+42449A>G
c.1892+42449A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36854411
chr21:36854692 G
G
 C
C
 37 a0001c0001t0001g0010
a0001c0001t0002g0165
a0001c0001t0002g0174
others(34): Show 
a0001c0001t0001g0010
a0001c0001t0002g0165
a0001c0001t0002g0174
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0007g0194
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0018g0176
a0001c0001t0019g0101
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0057g0225
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0002c0002t0048g0144
a0005c0011t0033g0139
a0008c0012t0035g0069
 37 HG00280.hp2
HG00323.hp1
HG01106.hp1
others(34): Show 
HG00280.hp2
HG00323.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01978.hp1
HG02080.hp1
HG02129.hp1
HG02257.hp1
HG02886.hp2
HG02896.hp2
HG02965.hp2
HG02976.hp2
HG03130.hp1
HG03516.hp2
HG03669.hp1
HG03710.hp2
HG03831.hp2
HG04115.hp2
HG04228.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18947.hp2
NA18950.hp2
NA18959.hp2
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19030.hp1
NA19084.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+42168C>G
c.1892+42168C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36854692
chr21:36854795 A
A
 C
C
 4 a0001c0001t0006g0132
a0001c0006t0023g0212
a0001c0006t0023g0222
others(1): Show 
a0001c0001t0006g0132
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
 4 HG02145.hp1
HG02976.hp1
HG03195.hp1
others(1): Show 
HG02145.hp1
HG02976.hp1
HG03195.hp1
NA19043.hp2
 intron_variant MODIFIER c.1892+42065T>G
c.1892+42065T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36854795
chr21:36854879 C
C
 T
T
 12 a0001c0001t0001g0006
a0001c0001t0004g0007
a0001c0001t0012g0234
others(9): Show 
a0001c0001t0001g0006
a0001c0001t0004g0007
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0018g0189
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0083g0013
a0001c0001t0101g0008
a0001c0004t0017g0219
a0001c0004t0017g0220
a0002c0002t0046g0150
 12 HG00738.hp1
HG01081.hp2
HG01243.hp2
others(9): Show 
HG00738.hp1
HG01081.hp2
HG01243.hp2
HG01516.hp1
HG01952.hp2
HG02896.hp1
HG02897.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG03579.hp2
HG04204.hp1
 intron_variant MODIFIER c.1892+41981G>A
c.1892+41981G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36854879
chr21:36854892 A
A
 C
C
 78 a0001c0001t0001g0010
a0001c0001t0002g0165
a0001c0001t0002g0174
others(75): Show 
a0001c0001t0001g0010
a0001c0001t0002g0165
a0001c0001t0002g0174
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0045
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0006g0132
a0001c0001t0007g0194
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0213
a0001c0001t0010g0249
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0018g0176
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0022g0187
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0038g0054
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0063g0208
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0005c0011t0033g0139
a0008c0012t0035g0069
 78 HG00323.hp1
HG00639.hp1
HG00735.hp1
others(75): Show 
HG00323.hp1
HG00639.hp1
HG00735.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01978.hp1
HG02080.hp1
HG02129.hp1
HG02145.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02647.hp2
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03710.hp2
HG03831.hp2
HG04115.hp2
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18947.hp2
NA18950.hp2
NA18959.hp2
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19084.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+41968T>G
c.1892+41968T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36854892
chr21:36854909 G
G
 A
A
 1 a0001c0001t0097g0038
a0001c0001t0097g0038
 1 NA18967.hp2
NA18967.hp2
 intron_variant MODIFIER c.1892+41951C>T
c.1892+41951C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36854909
chr21:36854989 T
T
 G
G
 151 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(148): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0007
a0001c0001t0004g0014
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0257
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0071g0089
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0099g0124
a0001c0001t0101g0008
a0001c0001t0103g0100
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 151 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(148): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00639.hp1
HG00735.hp1
HG00738.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02080.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02723.hp2
HG02809.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp2
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18947.hp2
NA18950.hp2
NA18959.hp1
NA18959.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19074.hp2
NA19084.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+41871A>C
c.1892+41871A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36854989
chr21:36854997 G
G
 C
C
 151 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(148): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0007
a0001c0001t0004g0014
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0257
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0071g0089
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0099g0124
a0001c0001t0101g0008
a0001c0001t0103g0100
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 151 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(148): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00639.hp1
HG00735.hp1
HG00738.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02080.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02723.hp2
HG02809.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp2
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18947.hp2
NA18950.hp2
NA18959.hp1
NA18959.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19074.hp2
NA19084.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+41863C>G
c.1892+41863C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36854997
chr21:36855032 T
T
 C
C
 1 a0001c0001t0005g0115
a0001c0001t0005g0115
 1 HG04115.hp2
HG04115.hp2
 intron_variant MODIFIER c.1892+41828A>G
c.1892+41828A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36855032
chr21:36855042 C
C
 T
T
 151 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(148): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0007
a0001c0001t0004g0014
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0257
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0071g0089
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0099g0124
a0001c0001t0101g0008
a0001c0001t0103g0100
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 151 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(148): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00639.hp1
HG00735.hp1
HG00738.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02080.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02723.hp2
HG02809.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp2
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18947.hp2
NA18950.hp2
NA18959.hp1
NA18959.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19074.hp2
NA19084.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+41818G>A
c.1892+41818G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36855042
chr21:36855245 A
A
 G
G
 257 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(254): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 257 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(254): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1892+41615T>C
c.1892+41615T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36855245
chr21:36855328 C
C
 A
A
 22 a0001c0001t0001g0010
a0001c0001t0002g0232
a0001c0001t0002g0237
others(19): Show 
a0001c0001t0001g0010
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0018g0176
a0001c0001t0019g0101
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0057g0225
a0001c0001t0109g0119
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0013t0022g0177
a0001c0015t0052g0239
a0008c0012t0035g0069
 22 HG02080.hp1
HG02129.hp1
HG02886.hp2
others(19): Show 
HG02080.hp1
HG02129.hp1
HG02886.hp2
HG02896.hp2
HG02965.hp2
HG03130.hp1
HG03710.hp2
HG04115.hp2
HG04228.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18947.hp2
NA18950.hp2
NA18959.hp2
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19030.hp1
NA19084.hp1
 intron_variant MODIFIER c.1892+41532G>T
c.1892+41532G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36855328
chr21:36855362 G
G
 C
C
 78 a0001c0001t0001g0010
a0001c0001t0002g0165
a0001c0001t0002g0174
others(75): Show 
a0001c0001t0001g0010
a0001c0001t0002g0165
a0001c0001t0002g0174
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0045
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0006g0132
a0001c0001t0007g0194
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0213
a0001c0001t0010g0249
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0018g0176
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0022g0187
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0038g0054
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0063g0208
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0005c0011t0033g0139
a0008c0012t0035g0069
 78 HG00323.hp1
HG00639.hp1
HG00735.hp1
others(75): Show 
HG00323.hp1
HG00639.hp1
HG00735.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01978.hp1
HG02080.hp1
HG02129.hp1
HG02145.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02647.hp2
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03710.hp2
HG03831.hp2
HG04115.hp2
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18947.hp2
NA18950.hp2
NA18959.hp2
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19084.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+41498C>G
c.1892+41498C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36855362
chr21:36855381 A
A
 AT
AT
 78 a0001c0001t0001g0010
a0001c0001t0002g0165
a0001c0001t0002g0174
others(75): Show 
a0001c0001t0001g0010
a0001c0001t0002g0165
a0001c0001t0002g0174
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0045
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0006g0132
a0001c0001t0007g0194
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0213
a0001c0001t0010g0249
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0018g0176
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0022g0187
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0038g0054
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0063g0208
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0005c0011t0033g0139
a0008c0012t0035g0069
 78 HG00323.hp1
HG00639.hp1
HG00735.hp1
others(75): Show 
HG00323.hp1
HG00639.hp1
HG00735.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01978.hp1
HG02080.hp1
HG02129.hp1
HG02145.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02647.hp2
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03710.hp2
HG03831.hp2
HG04115.hp2
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18947.hp2
NA18950.hp2
NA18959.hp2
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19084.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+41478_1892+41
others(7): Show 
c.1892+41478_1892+41479insA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36855381
chr21:36855420 C
C
 T
T
 5 a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
others(2): Show 
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0007t0007g0200
a0001c0007t0012g0207
 5 HG00323.hp1
HG01106.hp1
HG01109.hp2
others(2): Show 
HG00323.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG02257.hp1
 intron_variant MODIFIER c.1892+41440G>A
c.1892+41440G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36855420
chr21:36855521 G
G
 C
C
 24 a0001c0001t0002g0193
a0001c0001t0005g0052
a0001c0001t0006g0132
others(21): Show 
a0001c0001t0002g0193
a0001c0001t0005g0052
a0001c0001t0006g0132
a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0019g0061
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0038g0054
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
a0002c0002t0043g0152
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0005c0011t0033g0139
 24 HG01109.hp1
HG01884.hp2
HG02145.hp1
others(21): Show 
HG01109.hp1
HG01884.hp2
HG02145.hp1
HG02280.hp1
HG02572.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03195.hp1
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03540.hp2
HG03579.hp1
NA19043.hp1
NA19043.hp2
NA20129.hp1
 intron_variant MODIFIER c.1892+41339C>G
c.1892+41339C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36855521
chr21:36855536 T
T
 TA
TA
 38 a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0002g0193
others(35): Show 
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0002g0193
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0006g0132
a0001c0001t0008g0084
a0001c0001t0010g0213
a0001c0001t0013g0231
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0029g0051
a0001c0001t0038g0054
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0097g0038
a0001c0001t0105g0053
a0001c0003t0060g0203
a0001c0006t0023g0212
a0002c0002t0002g0155
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0062g0145
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0008c0012t0035g0069
 38 HG00438.hp1
HG00639.hp1
HG01106.hp2
others(35): Show 
HG00438.hp1
HG00639.hp1
HG01106.hp2
HG01109.hp1
HG01175.hp2
HG01257.hp2
HG01258.hp1
HG01884.hp2
HG01891.hp2
HG02080.hp1
HG02280.hp1
HG02280.hp2
HG02572.hp1
HG02602.hp1
HG02723.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03540.hp2
HG03579.hp1
NA18522.hp2
NA18940.hp1
NA18947.hp2
NA18950.hp1
NA18967.hp2
NA18993.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA20129.hp1
 intron_variant MODIFIER c.1892+41323dupT
c.1892+41323dupT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36855536
chr21:36855536 TA
TA
 T
T
 6 a0001c0001t0003g0226
a0001c0001t0008g0064
a0001c0001t0014g0241
others(3): Show 
a0001c0001t0003g0226
a0001c0001t0008g0064
a0001c0001t0014g0241
a0001c0001t0065g0252
a0001c0001t0106g0253
a0001c0004t0042g0209
 6 HG00673.hp2
HG00735.hp1
HG02622.hp2
others(3): Show 
HG00673.hp2
HG00735.hp1
HG02622.hp2
HG03041.hp2
HG03490.hp1
NA18984.hp1
 intron_variant MODIFIER c.1892+41323delT
c.1892+41323delT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36855536
chr21:36855536 TAA
TAA
 T
T
 18 a0001c0001t0001g0006
a0001c0001t0004g0007
a0001c0001t0004g0045
others(15): Show 
a0001c0001t0001g0006
a0001c0001t0004g0007
a0001c0001t0004g0045
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0018g0189
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0083g0013
a0001c0001t0101g0008
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0067g0067
a0001c0004t0068g0088
a0002c0002t0040g0242
a0002c0002t0046g0150
a0002c0002t0064g0243
 18 HG00738.hp1
HG01081.hp2
HG01243.hp2
others(15): Show 
HG00738.hp1
HG01081.hp2
HG01243.hp2
HG01516.hp1
HG01884.hp1
HG01891.hp1
HG01952.hp2
HG02486.hp1
HG02559.hp2
HG02896.hp1
HG02897.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03195.hp2
HG03225.hp2
HG03579.hp2
HG04204.hp1
 intron_variant MODIFIER c.1892+41322_1892+41
others(8): Show 
c.1892+41322_1892+41323delTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36855536
chr21:36855536 TAAAAAAA
others(9): Show 
TAAAAAAAAAAAAAAAA
 T
T
 61 a0001c0001t0001g0011
a0001c0001t0001g0077
a0001c0001t0001g0120
others(58): Show 
a0001c0001t0001g0011
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0004g0014
a0001c0001t0004g0138
a0001c0001t0005g0113
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0028g0167
a0001c0001t0030g0257
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0039g0126
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0071g0089
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0003t0111g0137
a0006c0016t0001g0116
a0007c0014t0070g0131
a0009c0009t0012g0196
 61 HG00280.hp2
HG00323.hp2
HG00438.hp2
others(58): Show 
HG00280.hp2
HG00323.hp2
HG00438.hp2
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01346.hp1
HG01496.hp1
HG01975.hp1
HG01981.hp1
HG02040.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp2
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02615.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02895.hp1
HG02897.hp1
HG03130.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp2
HG03540.hp1
HG03669.hp2
HG03704.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG04204.hp2
HG06807.hp2
NA18612.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18959.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18975.hp2
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19030.hp2
NA19068.hp2
NA19074.hp2
NA19240.hp2
 intron_variant MODIFIER c.1892+41308_1892+41
others(22): Show 
c.1892+41308_1892+41323delTTTTTTTTTTTTTTTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36855536
chr21:36855603 C
C
 T
T
 12 a0001c0001t0001g0006
a0001c0001t0004g0007
a0001c0001t0012g0234
others(9): Show 
a0001c0001t0001g0006
a0001c0001t0004g0007
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0018g0189
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0083g0013
a0001c0001t0101g0008
a0001c0004t0017g0219
a0001c0004t0017g0220
a0002c0002t0046g0150
 12 HG00738.hp1
HG01081.hp2
HG01243.hp2
others(9): Show 
HG00738.hp1
HG01081.hp2
HG01243.hp2
HG01516.hp1
HG01952.hp2
HG02896.hp1
HG02897.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG03579.hp2
HG04204.hp1
 intron_variant MODIFIER c.1892+41257G>A
c.1892+41257G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36855603
chr21:36855633 A
A
 G
G
 78 a0001c0001t0001g0010
a0001c0001t0002g0165
a0001c0001t0002g0174
others(75): Show 
a0001c0001t0001g0010
a0001c0001t0002g0165
a0001c0001t0002g0174
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0045
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0006g0132
a0001c0001t0007g0194
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0213
a0001c0001t0010g0249
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0018g0176
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0022g0187
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0038g0054
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0063g0208
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0005c0011t0033g0139
a0008c0012t0035g0069
 78 HG00323.hp1
HG00639.hp1
HG00735.hp1
others(75): Show 
HG00323.hp1
HG00639.hp1
HG00735.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01978.hp1
HG02080.hp1
HG02129.hp1
HG02145.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02647.hp2
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03710.hp2
HG03831.hp2
HG04115.hp2
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18947.hp2
NA18950.hp2
NA18959.hp2
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19084.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+41227T>C
c.1892+41227T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36855633
chr21:36855751 AT
AT
 A
A
 12 a0001c0001t0002g0165
a0001c0001t0002g0174
a0001c0001t0007g0194
others(9): Show 
a0001c0001t0002g0165
a0001c0001t0002g0174
a0001c0001t0007g0194
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0007t0007g0200
a0001c0007t0012g0207
 12 HG00323.hp1
HG01106.hp1
HG01109.hp2
others(9): Show 
HG00323.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01978.hp1
HG02257.hp1
HG03669.hp1
HG03831.hp2
NA20805.hp2
 intron_variant MODIFIER c.1892+41108delA
c.1892+41108delA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36855751
chr21:36855768 G
G
 A
A
 78 a0001c0001t0001g0010
a0001c0001t0002g0165
a0001c0001t0002g0174
others(75): Show 
a0001c0001t0001g0010
a0001c0001t0002g0165
a0001c0001t0002g0174
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0045
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0006g0132
a0001c0001t0007g0194
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0213
a0001c0001t0010g0249
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0018g0176
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0022g0187
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0038g0054
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0063g0208
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0005c0011t0033g0139
a0008c0012t0035g0069
 78 HG00323.hp1
HG00639.hp1
HG00735.hp1
others(75): Show 
HG00323.hp1
HG00639.hp1
HG00735.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01978.hp1
HG02080.hp1
HG02129.hp1
HG02145.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02647.hp2
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03710.hp2
HG03831.hp2
HG04115.hp2
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18947.hp2
NA18950.hp2
NA18959.hp2
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19084.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+41092C>T
c.1892+41092C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36855768
chr21:36855927 A
A
 G
G
 1 a0001c0003t0012g0205
a0001c0003t0012g0205
 1 HG01106.hp1
HG01106.hp1
 intron_variant MODIFIER c.1892+40933T>C
c.1892+40933T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36855927
chr21:36856128 A
A
 G
G
 4 a0001c0001t0010g0249
a0001c0001t0028g0192
a0001c0001t0044g0161
others(1): Show 
a0001c0001t0010g0249
a0001c0001t0028g0192
a0001c0001t0044g0161
a0001c0004t0017g0224
 4 HG02486.hp2
HG02647.hp2
HG02922.hp1
others(1): Show 
HG02486.hp2
HG02647.hp2
HG02922.hp1
HG03139.hp1
 intron_variant MODIFIER c.1892+40732T>C
c.1892+40732T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36856128
chr21:36856548 C
C
 T
T
 1 a0001c0003t0111g0137
a0001c0003t0111g0137
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.1892+40312G>A
c.1892+40312G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36856548
chr21:36856912 T
T
 C
C
 151 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(148): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0007
a0001c0001t0004g0014
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0257
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0071g0089
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0099g0124
a0001c0001t0101g0008
a0001c0001t0103g0100
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 151 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(148): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00639.hp1
HG00735.hp1
HG00738.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02080.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02723.hp2
HG02809.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp2
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18947.hp2
NA18950.hp2
NA18959.hp1
NA18959.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19074.hp2
NA19084.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+39948A>G
c.1892+39948A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36856912
chr21:36856959 T
T
 G
G
 8 a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
others(5): Show 
a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0003c0005t0058g0214
 8 HG02280.hp1
HG02723.hp2
HG02886.hp1
others(5): Show 
HG02280.hp1
HG02723.hp2
HG02886.hp1
HG02895.hp2
HG02965.hp1
HG03209.hp1
HG03453.hp1
HG03540.hp2
 intron_variant MODIFIER c.1892+39901A>C
c.1892+39901A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36856959
chr21:36856960 G
G
 A
A
 1 a0001c0004t0004g0046
a0001c0004t0004g0046
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.1892+39900C>T
c.1892+39900C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36856960
chr21:36857194 T
T
 C
C
 4 a0001c0001t0010g0249
a0001c0001t0028g0192
a0001c0001t0044g0161
others(1): Show 
a0001c0001t0010g0249
a0001c0001t0028g0192
a0001c0001t0044g0161
a0001c0004t0017g0224
 4 HG02486.hp2
HG02647.hp2
HG02922.hp1
others(1): Show 
HG02486.hp2
HG02647.hp2
HG02922.hp1
HG03139.hp1
 intron_variant MODIFIER c.1892+39666A>G
c.1892+39666A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36857194
chr21:36857228 C
C
 T
T
 1 a0001c0001t0004g0138
a0001c0001t0004g0138
 1 HG01175.hp1
HG01175.hp1
 intron_variant MODIFIER c.1892+39632G>A
c.1892+39632G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36857228
chr21:36857267 A
A
 C
C
 6 a0001c0001t0004g0045
a0001c0001t0022g0187
a0001c0004t0067g0067
others(3): Show 
a0001c0001t0004g0045
a0001c0001t0022g0187
a0001c0004t0067g0067
a0001c0004t0068g0088
a0002c0002t0040g0242
a0002c0002t0064g0243
 6 HG01884.hp1
HG01891.hp1
HG02486.hp1
others(3): Show 
HG01884.hp1
HG01891.hp1
HG02486.hp1
HG02559.hp2
HG03041.hp1
HG03195.hp2
 intron_variant MODIFIER c.1892+39593T>G
c.1892+39593T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36857267
chr21:36857338 G
G
 T
T
 78 a0001c0001t0001g0010
a0001c0001t0002g0165
a0001c0001t0002g0174
others(75): Show 
a0001c0001t0001g0010
a0001c0001t0002g0165
a0001c0001t0002g0174
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0045
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0006g0132
a0001c0001t0007g0194
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0213
a0001c0001t0010g0249
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0018g0176
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0022g0187
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0038g0054
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0063g0208
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0005c0011t0033g0139
a0008c0012t0035g0069
 78 HG00323.hp1
HG00639.hp1
HG00735.hp1
others(75): Show 
HG00323.hp1
HG00639.hp1
HG00735.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01978.hp1
HG02080.hp1
HG02129.hp1
HG02145.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02647.hp2
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03710.hp2
HG03831.hp2
HG04115.hp2
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18947.hp2
NA18950.hp2
NA18959.hp2
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19084.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+39522C>A
c.1892+39522C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36857338
chr21:36857503 G
G
 T
T
 5 a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
others(2): Show 
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0007t0007g0200
a0001c0007t0012g0207
 5 HG00323.hp1
HG01106.hp1
HG01109.hp2
others(2): Show 
HG00323.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG02257.hp1
 intron_variant MODIFIER c.1892+39357C>A
c.1892+39357C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36857503
chr21:36857509 T
T
 C
C
 1 a0002c0002t0045g0151
a0002c0002t0045g0151
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.1892+39351A>G
c.1892+39351A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36857509
chr21:36857576 C
C
 T
T
 6 a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
others(3): Show 
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0041g0148
a0002c0002t0045g0151
a0002c0002t0062g0145
 6 HG00639.hp1
HG02280.hp2
HG03139.hp2
others(3): Show 
HG00639.hp1
HG02280.hp2
HG03139.hp2
HG03209.hp2
NA18522.hp1
NA18522.hp2
 intron_variant MODIFIER c.1892+39284G>A
c.1892+39284G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36857576
chr21:36857662 T
T
 C
C
 80 a0001c0001t0001g0010
a0001c0001t0002g0165
a0001c0001t0002g0174
others(77): Show 
a0001c0001t0001g0010
a0001c0001t0002g0165
a0001c0001t0002g0174
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0045
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0006g0132
a0001c0001t0007g0194
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0213
a0001c0001t0010g0249
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0018g0176
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0022g0187
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0038g0054
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0063g0208
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0005c0011t0033g0139
a0008c0012t0035g0069
 80 HG00323.hp1
HG00639.hp1
HG00735.hp1
others(77): Show 
HG00323.hp1
HG00639.hp1
HG00735.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01978.hp1
HG02080.hp1
HG02129.hp1
HG02145.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02647.hp2
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03710.hp2
HG03831.hp2
HG04115.hp2
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18947.hp2
NA18950.hp2
NA18959.hp2
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19084.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+39198A>G
c.1892+39198A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36857662
chr21:36857728 C
C
 A
A
 25 a0001c0001t0002g0193
a0001c0001t0005g0052
a0001c0001t0006g0132
others(22): Show 
a0001c0001t0002g0193
a0001c0001t0005g0052
a0001c0001t0006g0132
a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0019g0061
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0038g0054
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
a0002c0002t0043g0152
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
 25 HG01109.hp1
HG01257.hp2
HG01258.hp1
others(22): Show 
HG01109.hp1
HG01257.hp2
HG01258.hp1
HG01884.hp2
HG02145.hp1
HG02280.hp1
HG02572.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03195.hp1
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03540.hp2
HG03579.hp1
NA19043.hp1
NA19043.hp2
NA20129.hp1
 intron_variant MODIFIER c.1892+39132G>T
c.1892+39132G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36857728
chr21:36857823 T
T
 C
C
 1 a0001c0001t0015g0141
a0001c0001t0015g0141
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.1892+39037A>G
c.1892+39037A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36857823
chr21:36857859 G
G
 A
A
 1 a0001c0001t0013g0240
a0001c0001t0013g0240
 1 NA18939.hp1
NA18939.hp1
 intron_variant MODIFIER c.1892+39001C>T
c.1892+39001C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36857859
chr21:36857884 G
G
 A
A
 1 a0001c0001t0008g0078
a0001c0001t0008g0078
 1 HG03927.hp1
HG03927.hp1
 intron_variant MODIFIER c.1892+38976C>T
c.1892+38976C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36857884
chr21:36857934 C
C
 T
T
 1 a0001c0001t0004g0058
a0001c0001t0004g0058
 1 HG01192.hp2
HG01192.hp2
 intron_variant MODIFIER c.1892+38926G>A
c.1892+38926G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36857934
chr21:36858034 C
C
 T
T
 4 a0001c0001t0004g0045
a0001c0001t0022g0187
a0001c0004t0067g0067
others(1): Show 
a0001c0001t0004g0045
a0001c0001t0022g0187
a0001c0004t0067g0067
a0001c0004t0068g0088
 4 HG01884.hp1
HG01891.hp1
HG02486.hp1
others(1): Show 
HG01884.hp1
HG01891.hp1
HG02486.hp1
HG03195.hp2
 intron_variant MODIFIER c.1892+38826G>A
c.1892+38826G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36858034
chr21:36858079 C
C
 T
T
 4 a0001c0001t0004g0045
a0001c0001t0022g0187
a0001c0004t0067g0067
others(1): Show 
a0001c0001t0004g0045
a0001c0001t0022g0187
a0001c0004t0067g0067
a0001c0004t0068g0088
 4 HG01884.hp1
HG01891.hp1
HG02486.hp1
others(1): Show 
HG01884.hp1
HG01891.hp1
HG02486.hp1
HG03195.hp2
 intron_variant MODIFIER c.1892+38781G>A
c.1892+38781G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36858079
chr21:36858454 A
A
 T
T
 73 a0001c0001t0001g0006
a0001c0001t0001g0011
a0001c0001t0001g0077
others(70): Show 
a0001c0001t0001g0006
a0001c0001t0001g0011
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0004g0007
a0001c0001t0004g0014
a0001c0001t0004g0138
a0001c0001t0005g0113
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0189
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0028g0167
a0001c0001t0030g0257
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0039g0126
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0071g0089
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0099g0124
a0001c0001t0101g0008
a0001c0001t0103g0100
a0001c0003t0111g0137
a0001c0004t0017g0219
a0001c0004t0017g0220
a0002c0002t0046g0150
a0006c0016t0001g0116
a0007c0014t0070g0131
a0009c0009t0012g0196
 73 HG00280.hp2
HG00323.hp2
HG00438.hp2
others(70): Show 
HG00280.hp2
HG00323.hp2
HG00438.hp2
HG00738.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01243.hp2
HG01346.hp1
HG01496.hp1
HG01516.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp1
HG02040.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp2
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02615.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03490.hp2
HG03492.hp2
HG03540.hp1
HG03579.hp2
HG03669.hp2
HG03704.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18612.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18959.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18975.hp2
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19030.hp2
NA19068.hp2
NA19074.hp2
NA19240.hp2
 intron_variant MODIFIER c.1892+38406T>A
c.1892+38406T>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36858454
chr21:36858626 G
G
 A
A
 4 a0001c0001t0010g0249
a0001c0001t0028g0192
a0001c0001t0044g0161
others(1): Show 
a0001c0001t0010g0249
a0001c0001t0028g0192
a0001c0001t0044g0161
a0001c0004t0017g0224
 4 HG02486.hp2
HG02647.hp2
HG02922.hp1
others(1): Show 
HG02486.hp2
HG02647.hp2
HG02922.hp1
HG03139.hp1
 intron_variant MODIFIER c.1892+38234C>T
c.1892+38234C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36858626
chr21:36858634 T
T
 C
C
 1 a0001c0001t0003g0230
a0001c0001t0003g0230
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.1892+38226A>G
c.1892+38226A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36858634
chr21:36858642 T
T
 G
G
 251 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(248): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 251 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(248): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1892+38218A>C
c.1892+38218A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36858642
chr21:36858661 A
A
 C
C
 151 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(148): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0007
a0001c0001t0004g0014
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0257
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0071g0089
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0099g0124
a0001c0001t0101g0008
a0001c0001t0103g0100
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 151 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(148): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00639.hp1
HG00735.hp1
HG00738.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02080.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02723.hp2
HG02809.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp2
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18947.hp2
NA18950.hp2
NA18959.hp1
NA18959.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19074.hp2
NA19084.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+38199T>G
c.1892+38199T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36858661
chr21:36858824 C
C
 T
T
 1 a0001c0001t0006g0256
a0001c0001t0006g0256
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.1892+38036G>A
c.1892+38036G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36858824
chr21:36858998 A
A
 G
G
 1 a0001c0001t0013g0240
a0001c0001t0013g0240
 1 NA18939.hp1
NA18939.hp1
 intron_variant MODIFIER c.1892+37862T>C
c.1892+37862T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36858998
chr21:36859137 C
C
 T
T
 2 a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0002g0195
a0003c0005t0027g0218
 2 HG03579.hp1
NA20129.hp1
HG03579.hp1
NA20129.hp1
 intron_variant MODIFIER c.1892+37723G>A
c.1892+37723G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36859137
chr21:36859399 C
C
 T
T
 1 a0002c0002t0046g0150
a0002c0002t0046g0150
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.1892+37461G>A
c.1892+37461G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36859399
chr21:36859478 C
C
 T
T
 3 a0001c0001t0028g0192
a0001c0001t0044g0161
a0001c0004t0017g0224
a0001c0001t0028g0192
a0001c0001t0044g0161
a0001c0004t0017g0224
 3 HG02486.hp2
HG02647.hp2
HG03139.hp1
HG02486.hp2
HG02647.hp2
HG03139.hp1
 intron_variant MODIFIER c.1892+37382G>A
c.1892+37382G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36859478
chr21:36859491 A
A
 G
G
 6 a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
others(3): Show 
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0041g0148
a0002c0002t0045g0151
a0002c0002t0062g0145
 6 HG00639.hp1
HG02280.hp2
HG03139.hp2
others(3): Show 
HG00639.hp1
HG02280.hp2
HG03139.hp2
HG03209.hp2
NA18522.hp1
NA18522.hp2
 intron_variant MODIFIER c.1892+37369T>C
c.1892+37369T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36859491
chr21:36859568 T
T
 C
C
 74 a0001c0001t0001g0010
a0001c0001t0002g0165
a0001c0001t0002g0174
others(71): Show 
a0001c0001t0001g0010
a0001c0001t0002g0165
a0001c0001t0002g0174
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0045
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0006g0132
a0001c0001t0007g0194
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0213
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0018g0176
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0022g0187
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0038g0054
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0063g0208
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0005c0011t0033g0139
a0008c0012t0035g0069
 74 HG00323.hp1
HG00639.hp1
HG00735.hp1
others(71): Show 
HG00323.hp1
HG00639.hp1
HG00735.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01978.hp1
HG02080.hp1
HG02129.hp1
HG02145.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03710.hp2
HG03831.hp2
HG04115.hp2
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18947.hp2
NA18950.hp2
NA18959.hp2
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19084.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+37292A>G
c.1892+37292A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36859568
chr21:36859784 G
G
 A
A
 4 a0001c0001t0004g0045
a0001c0001t0022g0187
a0001c0004t0067g0067
others(1): Show 
a0001c0001t0004g0045
a0001c0001t0022g0187
a0001c0004t0067g0067
a0001c0004t0068g0088
 4 HG01884.hp1
HG01891.hp1
HG02486.hp1
others(1): Show 
HG01884.hp1
HG01891.hp1
HG02486.hp1
HG03195.hp2
 intron_variant MODIFIER c.1892+37076C>T
c.1892+37076C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36859784
chr21:36859938 G
G
 A
A
 74 a0001c0001t0001g0010
a0001c0001t0002g0165
a0001c0001t0002g0174
others(71): Show 
a0001c0001t0001g0010
a0001c0001t0002g0165
a0001c0001t0002g0174
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0045
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0006g0132
a0001c0001t0007g0194
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0213
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0018g0176
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0022g0187
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0038g0054
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0063g0208
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0005c0011t0033g0139
a0008c0012t0035g0069
 74 HG00323.hp1
HG00639.hp1
HG00735.hp1
others(71): Show 
HG00323.hp1
HG00639.hp1
HG00735.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01978.hp1
HG02080.hp1
HG02129.hp1
HG02145.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03710.hp2
HG03831.hp2
HG04115.hp2
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18947.hp2
NA18950.hp2
NA18959.hp2
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19084.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+36922C>T
c.1892+36922C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36859938
chr21:36860014 C
C
 G
G
 2 a0002c0002t0040g0242
a0002c0002t0064g0243
a0002c0002t0040g0242
a0002c0002t0064g0243
 2 HG02559.hp2
HG03041.hp1
HG02559.hp2
HG03041.hp1
 intron_variant MODIFIER c.1892+36846G>C
c.1892+36846G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36860014
chr21:36860015 C
C
 T
T
 2 a0002c0002t0040g0242
a0002c0002t0064g0243
a0002c0002t0040g0242
a0002c0002t0064g0243
 2 HG02559.hp2
HG03041.hp1
HG02559.hp2
HG03041.hp1
 intron_variant MODIFIER c.1892+36845G>A
c.1892+36845G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36860015
chr21:36860144 C
C
 G
G
 12 a0001c0001t0008g0018
a0001c0001t0065g0252
a0001c0001t0066g0059
others(9): Show 
a0001c0001t0008g0018
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0106g0253
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0015g0142
a0002c0002t0027g0157
a0003c0005t0092g0134
 12 HG01106.hp2
HG01175.hp2
HG02135.hp2
others(9): Show 
HG01106.hp2
HG01175.hp2
HG02135.hp2
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG03041.hp2
HG03239.hp1
NA18951.hp1
NA18961.hp1
NA19088.hp1
 intron_variant MODIFIER c.1892+36716G>C
c.1892+36716G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36860144
chr21:36860320 G
G
 GC
GC
 6 a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
others(3): Show 
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0041g0148
a0002c0002t0045g0151
a0002c0002t0062g0145
 6 HG00639.hp1
HG02280.hp2
HG03139.hp2
others(3): Show 
HG00639.hp1
HG02280.hp2
HG03139.hp2
HG03209.hp2
NA18522.hp1
NA18522.hp2
 intron_variant MODIFIER c.1892+36539dupG
c.1892+36539dupG
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36860320
chr21:36860335 T
T
 TCACACCC
others(11): Show 
TCACACCCCTCCAGGAAGC
 35 a0001c0001t0001g0010
a0001c0001t0002g0165
a0001c0001t0002g0174
others(32): Show 
a0001c0001t0001g0010
a0001c0001t0002g0165
a0001c0001t0002g0174
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0007g0194
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0018g0176
a0001c0001t0019g0101
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0057g0225
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0002c0002t0048g0144
a0008c0012t0035g0069
 35 HG00323.hp1
HG01106.hp1
HG01109.hp2
others(32): Show 
HG00323.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01978.hp1
HG02080.hp1
HG02129.hp1
HG02257.hp1
HG02886.hp2
HG02896.hp2
HG02965.hp2
HG03130.hp1
HG03516.hp2
HG03669.hp1
HG03710.hp2
HG03831.hp2
HG04115.hp2
HG04228.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18947.hp2
NA18950.hp2
NA18959.hp2
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19030.hp1
NA19084.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+36507_1892+36
others(24): Show 
c.1892+36507_1892+36524dupGCTTCCTGGAGGGGTGTG
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36860335
chr21:36860335 TCACACCC
others(11): Show 
TCACACCCCTCCAGGAAGC
 T
T
 4 a0001c0001t0010g0249
a0001c0001t0028g0192
a0001c0001t0044g0161
others(1): Show 
a0001c0001t0010g0249
a0001c0001t0028g0192
a0001c0001t0044g0161
a0001c0004t0017g0224
 4 HG02486.hp2
HG02647.hp2
HG02922.hp1
others(1): Show 
HG02486.hp2
HG02647.hp2
HG02922.hp1
HG03139.hp1
 intron_variant MODIFIER c.1892+36507_1892+36
others(24): Show 
c.1892+36507_1892+36524delGCTTCCTGGAGGGGTGTG
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36860335
chr21:36860375 A
A
 G
G
 2 a0001c0001t0001g0074
a0001c0001t0100g0073
a0001c0001t0001g0074
a0001c0001t0100g0073
 2 HG00280.hp1
HG01169.hp2
HG00280.hp1
HG01169.hp2
 intron_variant MODIFIER c.1892+36485T>C
c.1892+36485T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36860375
chr21:36860379 G
G
 A
A
 38 a0001c0001t0002g0193
a0001c0001t0004g0045
a0001c0001t0005g0052
others(35): Show 
a0001c0001t0002g0193
a0001c0001t0004g0045
a0001c0001t0005g0052
a0001c0001t0006g0132
a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0019g0061
a0001c0001t0022g0187
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0038g0054
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0005c0011t0033g0139
 38 HG00639.hp1
HG01109.hp1
HG01257.hp2
others(35): Show 
HG00639.hp1
HG01109.hp1
HG01257.hp2
HG01258.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03540.hp2
HG03579.hp1
NA18522.hp1
NA18522.hp2
NA19043.hp1
NA19043.hp2
NA20129.hp1
 intron_variant MODIFIER c.1892+36481C>T
c.1892+36481C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36860379
chr21:36860471 G
G
 A
A
 18 a0001c0001t0006g0132
a0001c0001t0010g0213
a0001c0001t0015g0141
others(15): Show 
a0001c0001t0006g0132
a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
a0002c0002t0043g0152
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0005c0011t0033g0139
 18 HG01257.hp2
HG01258.hp1
HG02145.hp1
others(15): Show 
HG01257.hp2
HG01258.hp1
HG02145.hp1
HG02280.hp1
HG02723.hp2
HG02886.hp1
HG02895.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03195.hp1
HG03209.hp1
HG03453.hp1
HG03471.hp1
HG03540.hp2
HG03579.hp1
NA19043.hp2
NA20129.hp1
 intron_variant MODIFIER c.1892+36389C>T
c.1892+36389C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36860471
chr21:36860937 G
G
 A
A
 74 a0001c0001t0001g0010
a0001c0001t0002g0165
a0001c0001t0002g0174
others(71): Show 
a0001c0001t0001g0010
a0001c0001t0002g0165
a0001c0001t0002g0174
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0045
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0006g0132
a0001c0001t0007g0194
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0213
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0018g0176
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0022g0187
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0038g0054
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0063g0208
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0005c0011t0033g0139
a0008c0012t0035g0069
 74 HG00323.hp1
HG00639.hp1
HG00735.hp1
others(71): Show 
HG00323.hp1
HG00639.hp1
HG00735.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01978.hp1
HG02080.hp1
HG02129.hp1
HG02145.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03710.hp2
HG03831.hp2
HG04115.hp2
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18947.hp2
NA18950.hp2
NA18959.hp2
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19084.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+35923C>T
c.1892+35923C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36860937
chr21:36861471 G
G
 A
A
 2 a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0026g0250
a0001c0001t0026g0251
 2 HG01257.hp2
HG01258.hp1
HG01257.hp2
HG01258.hp1
 intron_variant MODIFIER c.1892+35389C>T
c.1892+35389C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36861471
chr21:36861473 A
A
 G
G
 3 a0001c0001t0022g0187
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0001t0022g0187
a0001c0004t0067g0067
a0001c0004t0068g0088
 3 HG01884.hp1
HG01891.hp1
HG03195.hp2
HG01884.hp1
HG01891.hp1
HG03195.hp2
 intron_variant MODIFIER c.1892+35387T>C
c.1892+35387T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36861473
chr21:36861565 C
C
 T
T
 1 a0001c0001t0020g0121
a0001c0001t0020g0121
 1 NA19057.hp1
NA19057.hp1
 intron_variant MODIFIER c.1892+35295G>A
c.1892+35295G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36861565
chr21:36861598 T
T
 C
C
 86 a0001c0001t0001g0010
a0001c0001t0002g0165
a0001c0001t0002g0174
others(83): Show 
a0001c0001t0001g0010
a0001c0001t0002g0165
a0001c0001t0002g0174
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0045
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0006g0132
a0001c0001t0007g0194
a0001c0001t0008g0018
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0213
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0018g0176
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0022g0187
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0038g0054
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0008c0012t0035g0069
 86 HG00323.hp1
HG00639.hp1
HG00735.hp1
others(83): Show 
HG00323.hp1
HG00639.hp1
HG00735.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01175.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01978.hp1
HG02080.hp1
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03710.hp2
HG03831.hp2
HG04115.hp2
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18959.hp2
NA18961.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19084.hp1
NA19088.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+35262A>G
c.1892+35262A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36861598
chr21:36861825 C
C
 T
T
 10 a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
others(7): Show 
a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
 10 HG02280.hp1
HG02723.hp2
HG02886.hp1
others(7): Show 
HG02280.hp1
HG02723.hp2
HG02886.hp1
HG02895.hp2
HG02965.hp1
HG03209.hp1
HG03453.hp1
HG03540.hp2
HG03579.hp1
NA20129.hp1
 intron_variant MODIFIER c.1892+35035G>A
c.1892+35035G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36861825
chr21:36861972 G
G
 A
A
 158 a0001c0001t0001g0010
a0001c0001t0001g0077
a0001c0001t0001g0120
others(155): Show 
a0001c0001t0001g0010
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0014
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0257
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 158 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(155): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00639.hp1
HG00735.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02080.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp2
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19074.hp2
NA19084.hp1
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+34888C>T
c.1892+34888C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36861972
chr21:36862121 G
G
 C
C
 1 a0001c0001t0003g0184
a0001c0001t0003g0184
 1 NA19068.hp2
NA19068.hp2
 intron_variant MODIFIER c.1892+34739C>G
c.1892+34739C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36862121
chr21:36862131 C
C
 T
T
 1 a0001c0003t0007g0221
a0001c0003t0007g0221
 1 HG01168.hp1
HG01168.hp1
 intron_variant MODIFIER c.1892+34729G>A
c.1892+34729G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36862131
chr21:36862282 G
G
 A
A
 4 a0001c0001t0010g0249
a0001c0001t0028g0192
a0001c0001t0044g0161
others(1): Show 
a0001c0001t0010g0249
a0001c0001t0028g0192
a0001c0001t0044g0161
a0001c0004t0017g0224
 4 HG02486.hp2
HG02647.hp2
HG02922.hp1
others(1): Show 
HG02486.hp2
HG02647.hp2
HG02922.hp1
HG03139.hp1
 intron_variant MODIFIER c.1892+34578C>T
c.1892+34578C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36862282
chr21:36862380 C
C
 T
T
 2 a0001c0001t0005g0021
a0001c0010t0011g0020
a0001c0001t0005g0021
a0001c0010t0011g0020
 2 NA18950.hp1
NA18970.hp1
NA18950.hp1
NA18970.hp1
 intron_variant MODIFIER c.1892+34480G>A
c.1892+34480G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36862380
chr21:36862602 T
T
 G
G
 2 a0002c0002t0013g0147
a0002c0002t0045g0151
a0002c0002t0013g0147
a0002c0002t0045g0151
 2 HG03139.hp2
NA18522.hp1
HG03139.hp2
NA18522.hp1
 intron_variant MODIFIER c.1892+34258A>C
c.1892+34258A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36862602
chr21:36862715 C
C
 T
T
 22 a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
others(19): Show 
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0009g0178
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0061g0163
a0001c0001t0090g0005
 22 HG00280.hp2
HG00323.hp2
HG01070.hp2
others(19): Show 
HG00280.hp2
HG00323.hp2
HG01070.hp2
HG01071.hp2
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG01496.hp1
HG02300.hp2
HG02683.hp2
HG03490.hp2
HG03492.hp2
HG03669.hp2
HG03704.hp2
HG03831.hp1
HG03927.hp2
HG04204.hp2
NA18944.hp1
NA18967.hp1
NA18968.hp2
NA19004.hp2
NA19068.hp2
 intron_variant MODIFIER c.1892+34145G>A
c.1892+34145G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36862715
chr21:36862945 C
C
 CT
CT
 42 a0001c0001t0001g0024
a0001c0001t0001g0122
a0001c0001t0002g0193
others(39): Show 
a0001c0001t0001g0024
a0001c0001t0001g0122
a0001c0001t0002g0193
a0001c0001t0004g0045
a0001c0001t0005g0052
a0001c0001t0006g0132
a0001c0001t0008g0078
a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0019g0061
a0001c0001t0022g0187
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0038g0054
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0076g0090
a0001c0001t0099g0124
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0002c0002t0002g0154
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0027g0218
a0003c0005t0058g0214
a0005c0011t0033g0139
 42 HG00639.hp1
HG01109.hp1
HG01257.hp1
others(39): Show 
HG00639.hp1
HG01109.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03540.hp2
HG03579.hp1
HG03927.hp1
NA18522.hp1
NA18522.hp2
NA18951.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19084.hp2
 intron_variant MODIFIER c.1892+33914dupA
c.1892+33914dupA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36862945
chr21:36862945 C
C
 CTT
CTT
 48 a0001c0001t0001g0010
a0001c0001t0002g0165
a0001c0001t0002g0174
others(45): Show 
a0001c0001t0001g0010
a0001c0001t0002g0165
a0001c0001t0002g0174
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0007g0194
a0001c0001t0008g0018
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0018g0176
a0001c0001t0019g0101
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0057g0225
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0106g0253
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0042g0209
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0015g0142
a0002c0002t0027g0157
a0002c0002t0048g0144
a0003c0005t0092g0134
a0008c0012t0035g0069
 48 HG00323.hp1
HG00735.hp1
HG01106.hp1
others(45): Show 
HG00323.hp1
HG00735.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01168.hp1
HG01175.hp2
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01978.hp1
HG02080.hp1
HG02129.hp1
HG02135.hp2
HG02257.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02886.hp2
HG02896.hp2
HG02965.hp2
HG03041.hp2
HG03130.hp1
HG03195.hp1
HG03239.hp1
HG03516.hp2
HG03669.hp1
HG03710.hp2
HG03831.hp2
HG04115.hp2
HG04228.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18947.hp2
NA18950.hp2
NA18959.hp2
NA18961.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19030.hp1
NA19084.hp1
NA19088.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+33913_1892+33
others(8): Show 
c.1892+33913_1892+33914dupAA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36862945
chr21:36862945 CT
CT
 C
C
 6 a0001c0001t0001g0040
a0001c0001t0001g0077
a0001c0001t0006g0012
others(3): Show 
a0001c0001t0001g0040
a0001c0001t0001g0077
a0001c0001t0006g0012
a0001c0001t0014g0182
a0001c0001t0016g0091
a0001c0004t0017g0220
 6 HG00673.hp1
HG01168.hp2
HG01952.hp1
others(3): Show 
HG00673.hp1
HG01168.hp2
HG01952.hp1
HG02896.hp1
NA18959.hp1
NA19074.hp1
 intron_variant MODIFIER c.1892+33914delA
c.1892+33914delA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36862945
chr21:36862971 G
G
 A
A
 89 a0001c0001t0001g0010
a0001c0001t0002g0165
a0001c0001t0002g0174
others(86): Show 
a0001c0001t0001g0010
a0001c0001t0002g0165
a0001c0001t0002g0174
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0045
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0006g0029
a0001c0001t0006g0132
a0001c0001t0007g0194
a0001c0001t0008g0018
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0213
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0018g0176
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0022g0187
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0034g0030
a0001c0001t0038g0054
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0077g0039
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0008c0012t0035g0069
 89 HG00323.hp1
HG00639.hp1
HG00735.hp1
others(86): Show 
HG00323.hp1
HG00639.hp1
HG00735.hp1
HG00738.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01175.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01978.hp1
HG02080.hp1
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03710.hp2
HG03831.hp2
HG04115.hp2
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18959.hp2
NA18961.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19084.hp1
NA19088.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+33889C>T
c.1892+33889C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36862971
chr21:36863044 C
C
 T
T
 2 a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0026g0250
a0001c0001t0026g0251
 2 HG01257.hp2
HG01258.hp1
HG01257.hp2
HG01258.hp1
 intron_variant MODIFIER c.1892+33816G>A
c.1892+33816G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36863044
chr21:36863136 C
C
 T
T
 86 a0001c0001t0001g0010
a0001c0001t0002g0165
a0001c0001t0002g0174
others(83): Show 
a0001c0001t0001g0010
a0001c0001t0002g0165
a0001c0001t0002g0174
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0045
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0006g0132
a0001c0001t0007g0194
a0001c0001t0008g0018
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0213
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0018g0176
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0022g0187
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0038g0054
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0008c0012t0035g0069
 86 HG00323.hp1
HG00639.hp1
HG00735.hp1
others(83): Show 
HG00323.hp1
HG00639.hp1
HG00735.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01175.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01978.hp1
HG02080.hp1
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03710.hp2
HG03831.hp2
HG04115.hp2
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18959.hp2
NA18961.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19084.hp1
NA19088.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+33724G>A
c.1892+33724G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36863136
chr21:36863335 G
G
 A
A
 2 a0002c0002t0043g0152
a0005c0011t0033g0139
a0002c0002t0043g0152
a0005c0011t0033g0139
 2 HG02976.hp2
HG03471.hp1
HG02976.hp2
HG03471.hp1
 intron_variant MODIFIER c.1892+33525C>T
c.1892+33525C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36863335
chr21:36863476 G
G
 A
A
 4 a0001c0001t0010g0249
a0001c0001t0028g0192
a0001c0001t0044g0161
others(1): Show 
a0001c0001t0010g0249
a0001c0001t0028g0192
a0001c0001t0044g0161
a0001c0004t0017g0224
 4 HG02486.hp2
HG02647.hp2
HG02922.hp1
others(1): Show 
HG02486.hp2
HG02647.hp2
HG02922.hp1
HG03139.hp1
 intron_variant MODIFIER c.1892+33384C>T
c.1892+33384C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36863476
chr21:36863552 T
T
 G
G
 47 a0001c0001t0001g0010
a0001c0001t0002g0165
a0001c0001t0002g0174
others(44): Show 
a0001c0001t0001g0010
a0001c0001t0002g0165
a0001c0001t0002g0174
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0007g0194
a0001c0001t0008g0018
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0018g0176
a0001c0001t0019g0101
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0057g0225
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0106g0253
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0015g0142
a0002c0002t0027g0157
a0002c0002t0048g0144
a0003c0005t0092g0134
a0008c0012t0035g0069
 47 HG00323.hp1
HG01106.hp1
HG01106.hp2
others(44): Show 
HG00323.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01168.hp1
HG01175.hp2
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01978.hp1
HG02080.hp1
HG02129.hp1
HG02135.hp2
HG02257.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02886.hp2
HG02896.hp2
HG02965.hp2
HG03041.hp2
HG03130.hp1
HG03239.hp1
HG03516.hp2
HG03669.hp1
HG03710.hp2
HG03831.hp2
HG04115.hp2
HG04228.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18959.hp2
NA18961.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19030.hp1
NA19084.hp1
NA19088.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+33308A>C
c.1892+33308A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36863552
chr21:36863633 C
C
 G
G
 86 a0001c0001t0001g0010
a0001c0001t0002g0165
a0001c0001t0002g0174
others(83): Show 
a0001c0001t0001g0010
a0001c0001t0002g0165
a0001c0001t0002g0174
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0045
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0006g0132
a0001c0001t0007g0194
a0001c0001t0008g0018
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0213
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0018g0176
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0022g0187
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0038g0054
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0008c0012t0035g0069
 86 HG00323.hp1
HG00639.hp1
HG00735.hp1
others(83): Show 
HG00323.hp1
HG00639.hp1
HG00735.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01175.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01978.hp1
HG02080.hp1
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03710.hp2
HG03831.hp2
HG04115.hp2
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18959.hp2
NA18961.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19084.hp1
NA19088.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+33227G>C
c.1892+33227G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36863633
chr21:36863648 C
C
 A
A
 60 a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
others(57): Show 
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0004g0014
a0001c0001t0004g0138
a0001c0001t0005g0113
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0028g0167
a0001c0001t0030g0257
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0039g0126
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0071g0089
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0003t0111g0137
a0006c0016t0001g0116
a0007c0014t0070g0131
a0009c0009t0012g0196
 60 HG00280.hp2
HG00323.hp2
HG00438.hp2
others(57): Show 
HG00280.hp2
HG00323.hp2
HG00438.hp2
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01346.hp1
HG01496.hp1
HG01975.hp1
HG01981.hp1
HG02040.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp2
HG02300.hp2
HG02523.hp2
HG02615.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02895.hp1
HG02897.hp1
HG03130.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp2
HG03540.hp1
HG03669.hp2
HG03704.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG04204.hp2
HG06807.hp2
NA18612.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18959.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18975.hp2
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19030.hp2
NA19068.hp2
NA19074.hp2
NA19240.hp2
 intron_variant MODIFIER c.1892+33212G>T
c.1892+33212G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36863648
chr21:36863650 C
C
 T
T
 158 a0001c0001t0001g0010
a0001c0001t0001g0077
a0001c0001t0001g0120
others(155): Show 
a0001c0001t0001g0010
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0014
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0257
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 158 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(155): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00639.hp1
HG00735.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02080.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp2
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19074.hp2
NA19084.hp1
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+33210G>A
c.1892+33210G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36863650
chr21:36863838 GT
GT
 G
G
 257 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(254): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 257 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(254): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1892+33021delA
c.1892+33021delA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36863838
chr21:36863854 GT
GT
 G
G
 257 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(254): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 257 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(254): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1892+33005delA
c.1892+33005delA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36863854
chr21:36863977 C
C
 T
T
 68 a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
others(65): Show 
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0004g0014
a0001c0001t0004g0138
a0001c0001t0005g0113
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0189
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0028g0167
a0001c0001t0030g0257
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0039g0126
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0071g0089
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0003t0111g0137
a0001c0004t0017g0219
a0001c0004t0017g0220
a0002c0002t0046g0150
a0006c0016t0001g0116
a0007c0014t0070g0131
a0009c0009t0012g0196
 68 HG00280.hp2
HG00323.hp2
HG00438.hp2
others(65): Show 
HG00280.hp2
HG00323.hp2
HG00438.hp2
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01346.hp1
HG01496.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp1
HG02040.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp2
HG02300.hp2
HG02523.hp2
HG02615.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03490.hp2
HG03492.hp2
HG03540.hp1
HG03579.hp2
HG03669.hp2
HG03704.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18612.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18959.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18975.hp2
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19030.hp2
NA19068.hp2
NA19074.hp2
NA19240.hp2
 intron_variant MODIFIER c.1892+32883G>A
c.1892+32883G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36863977
chr21:36864036 T
T
 G
G
 61 a0001c0001t0001g0011
a0001c0001t0001g0077
a0001c0001t0001g0120
others(58): Show 
a0001c0001t0001g0011
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0004g0014
a0001c0001t0004g0138
a0001c0001t0005g0113
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0028g0167
a0001c0001t0030g0257
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0039g0126
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0071g0089
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0003t0111g0137
a0006c0016t0001g0116
a0007c0014t0070g0131
a0009c0009t0012g0196
 61 HG00280.hp2
HG00323.hp2
HG00438.hp2
others(58): Show 
HG00280.hp2
HG00323.hp2
HG00438.hp2
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01346.hp1
HG01496.hp1
HG01975.hp1
HG01981.hp1
HG02040.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp2
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02615.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02895.hp1
HG02897.hp1
HG03130.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp2
HG03540.hp1
HG03669.hp2
HG03704.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG04204.hp2
HG06807.hp2
NA18612.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18959.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18975.hp2
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19030.hp2
NA19068.hp2
NA19074.hp2
NA19240.hp2
 intron_variant MODIFIER c.1892+32824A>C
c.1892+32824A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36864036
chr21:36864173 G
G
 A
A
 8 a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0018g0189
others(5): Show 
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0018g0189
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0004t0017g0219
a0001c0004t0017g0220
a0002c0002t0046g0150
 8 HG01952.hp2
HG02896.hp1
HG02897.hp2
others(5): Show 
HG01952.hp2
HG02896.hp1
HG02897.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG03579.hp2
HG04204.hp1
 intron_variant MODIFIER c.1892+32687C>T
c.1892+32687C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36864173
chr21:36864269 G
G
 A
A
 13 a0001c0001t0008g0018
a0001c0001t0065g0252
a0001c0001t0066g0059
others(10): Show 
a0001c0001t0008g0018
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0106g0253
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0015g0142
a0002c0002t0027g0157
a0002c0002t0048g0144
a0003c0005t0092g0134
 13 HG01106.hp2
HG01175.hp2
HG02135.hp2
others(10): Show 
HG01106.hp2
HG01175.hp2
HG02135.hp2
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG03041.hp2
HG03239.hp1
HG03516.hp2
NA18951.hp1
NA18961.hp1
NA19088.hp1
 intron_variant MODIFIER c.1892+32591C>T
c.1892+32591C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36864269
chr21:36864272 T
T
 C
C
 86 a0001c0001t0001g0010
a0001c0001t0002g0165
a0001c0001t0002g0174
others(83): Show 
a0001c0001t0001g0010
a0001c0001t0002g0165
a0001c0001t0002g0174
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0045
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0006g0132
a0001c0001t0007g0194
a0001c0001t0008g0018
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0213
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0018g0176
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0022g0187
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0038g0054
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0008c0012t0035g0069
 86 HG00323.hp1
HG00639.hp1
HG00735.hp1
others(83): Show 
HG00323.hp1
HG00639.hp1
HG00735.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01175.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01978.hp1
HG02080.hp1
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03710.hp2
HG03831.hp2
HG04115.hp2
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18959.hp2
NA18961.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19084.hp1
NA19088.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+32588A>G
c.1892+32588A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36864272
chr21:36864292 T
T
 C
C
 86 a0001c0001t0001g0010
a0001c0001t0002g0165
a0001c0001t0002g0174
others(83): Show 
a0001c0001t0001g0010
a0001c0001t0002g0165
a0001c0001t0002g0174
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0045
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0006g0132
a0001c0001t0007g0194
a0001c0001t0008g0018
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0213
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0018g0176
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0022g0187
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0038g0054
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0008c0012t0035g0069
 86 HG00323.hp1
HG00639.hp1
HG00735.hp1
others(83): Show 
HG00323.hp1
HG00639.hp1
HG00735.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01175.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01978.hp1
HG02080.hp1
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03710.hp2
HG03831.hp2
HG04115.hp2
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18959.hp2
NA18961.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19084.hp1
NA19088.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+32568A>G
c.1892+32568A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36864292
chr21:36864339 G
G
 A
A
 10 a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
others(7): Show 
a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
 10 HG02280.hp1
HG02723.hp2
HG02886.hp1
others(7): Show 
HG02280.hp1
HG02723.hp2
HG02886.hp1
HG02895.hp2
HG02965.hp1
HG03209.hp1
HG03453.hp1
HG03540.hp2
HG03579.hp1
NA20129.hp1
 intron_variant MODIFIER c.1892+32521C>T
c.1892+32521C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36864339
chr21:36864386 A
A
 C
C
 1 a0001c0001t0075g0049
a0001c0001t0075g0049
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.1892+32474T>G
c.1892+32474T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36864386
chr21:36864395 C
C
 CA
CA
 12 a0001c0001t0002g0193
a0001c0001t0004g0138
a0001c0001t0005g0052
others(9): Show 
a0001c0001t0002g0193
a0001c0001t0004g0138
a0001c0001t0005g0052
a0001c0001t0013g0231
a0001c0001t0019g0061
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0038g0054
a0001c0001t0103g0100
a0001c0001t0105g0053
a0001c0001t0107g0050
a0002c0002t0018g0153
 12 HG00438.hp2
HG01109.hp1
HG01175.hp1
others(9): Show 
HG00438.hp2
HG01109.hp1
HG01175.hp1
HG01884.hp2
HG02080.hp1
HG02572.hp1
HG02809.hp1
HG02818.hp2
HG02922.hp2
HG03453.hp2
NA18522.hp2
NA19043.hp1
 intron_variant MODIFIER c.1892+32464dupT
c.1892+32464dupT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36864395
chr21:36864481 C
C
 A
A
 5 a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0041g0148
others(2): Show 
a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0041g0148
a0002c0002t0045g0151
a0002c0002t0062g0145
 5 HG00639.hp1
HG02280.hp2
HG03139.hp2
others(2): Show 
HG00639.hp1
HG02280.hp2
HG03139.hp2
HG03209.hp2
NA18522.hp1
 intron_variant MODIFIER c.1892+32379G>T
c.1892+32379G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36864481
chr21:36864518 T
T
 C
C
 1 a0001c0001t0055g0185
a0001c0001t0055g0185
 1 HG03492.hp2
HG03492.hp2
 intron_variant MODIFIER c.1892+32342A>G
c.1892+32342A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36864518
chr21:36864616 T
T
 C
C
 1 a0001c0001t0010g0249
a0001c0001t0010g0249
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.1892+32244A>G
c.1892+32244A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36864616
chr21:36864696 C
C
 T
T
 2 a0001c0001t0013g0223
a0002c0002t0046g0150
a0001c0001t0013g0223
a0002c0002t0046g0150
 2 HG03098.hp1
HG03579.hp2
HG03098.hp1
HG03579.hp2
 intron_variant MODIFIER c.1892+32164G>A
c.1892+32164G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36864696
chr21:36864707 T
T
 C
C
 5 a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0041g0148
others(2): Show 
a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0041g0148
a0002c0002t0045g0151
a0002c0002t0062g0145
 5 HG00639.hp1
HG02280.hp2
HG03139.hp2
others(2): Show 
HG00639.hp1
HG02280.hp2
HG03139.hp2
HG03209.hp2
NA18522.hp1
 intron_variant MODIFIER c.1892+32153A>G
c.1892+32153A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36864707
chr21:36864813 C
C
 T
T
 8 a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
others(5): Show 
a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0003c0005t0058g0214
 8 HG02280.hp1
HG02723.hp2
HG02886.hp1
others(5): Show 
HG02280.hp1
HG02723.hp2
HG02886.hp1
HG02895.hp2
HG02965.hp1
HG03209.hp1
HG03453.hp1
HG03540.hp2
 intron_variant MODIFIER c.1892+32047G>A
c.1892+32047G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36864813
chr21:36864856 T
T
 C
C
 4 a0001c0001t0001g0006
a0001c0001t0004g0007
a0001c0001t0083g0013
others(1): Show 
a0001c0001t0001g0006
a0001c0001t0004g0007
a0001c0001t0083g0013
a0001c0001t0101g0008
 4 HG00738.hp1
HG01081.hp2
HG01243.hp2
others(1): Show 
HG00738.hp1
HG01081.hp2
HG01243.hp2
HG01516.hp1
 intron_variant MODIFIER c.1892+32004A>G
c.1892+32004A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36864856
chr21:36865032 T
T
 C
C
 1 a0001c0001t0005g0115
a0001c0001t0005g0115
 1 HG04115.hp2
HG04115.hp2
 intron_variant MODIFIER c.1892+31828A>G
c.1892+31828A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36865032
chr21:36865096 A
A
 C
C
 1 a0007c0014t0070g0131
a0007c0014t0070g0131
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.1892+31764T>G
c.1892+31764T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36865096
chr21:36865152 CTGA
CTGA
 C
C
 8 a0001c0001t0002g0193
a0001c0001t0005g0052
a0001c0001t0019g0061
others(5): Show 
a0001c0001t0002g0193
a0001c0001t0005g0052
a0001c0001t0019g0061
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0038g0054
a0001c0001t0105g0053
a0001c0001t0107g0050
 8 HG01109.hp1
HG01884.hp2
HG02572.hp1
others(5): Show 
HG01109.hp1
HG01884.hp2
HG02572.hp1
HG02809.hp1
HG02818.hp2
HG02922.hp2
HG03453.hp2
NA19043.hp1
 intron_variant MODIFIER c.1892+31705_1892+31
others(9): Show 
c.1892+31705_1892+31707delTCA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36865152
chr21:36865158 C
C
 G
G
 86 a0001c0001t0001g0010
a0001c0001t0002g0165
a0001c0001t0002g0174
others(83): Show 
a0001c0001t0001g0010
a0001c0001t0002g0165
a0001c0001t0002g0174
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0045
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0006g0132
a0001c0001t0007g0194
a0001c0001t0008g0018
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0213
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0018g0176
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0022g0187
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0038g0054
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0008c0012t0035g0069
 86 HG00323.hp1
HG00639.hp1
HG00735.hp1
others(83): Show 
HG00323.hp1
HG00639.hp1
HG00735.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01175.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01978.hp1
HG02080.hp1
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03710.hp2
HG03831.hp2
HG04115.hp2
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18959.hp2
NA18961.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19084.hp1
NA19088.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+31702G>C
c.1892+31702G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36865158
chr21:36865184 G
G
 T
T
 25 a0001c0001t0002g0165
a0001c0001t0002g0174
a0001c0001t0007g0194
others(22): Show 
a0001c0001t0002g0165
a0001c0001t0002g0174
a0001c0001t0007g0194
a0001c0001t0008g0018
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0106g0253
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0015g0142
a0002c0002t0027g0157
a0002c0002t0048g0144
a0003c0005t0092g0134
 25 HG00323.hp1
HG01106.hp1
HG01106.hp2
others(22): Show 
HG00323.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01168.hp1
HG01175.hp2
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01978.hp1
HG02135.hp2
HG02257.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG03041.hp2
HG03239.hp1
HG03516.hp2
HG03669.hp1
HG03831.hp2
NA18951.hp1
NA18961.hp1
NA19088.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+31676C>A
c.1892+31676C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36865184
chr21:36865200 A
A
 G
G
 73 a0001c0001t0001g0006
a0001c0001t0001g0011
a0001c0001t0001g0017
others(70): Show 
a0001c0001t0001g0006
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0003g0175
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0058
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0094
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0011g0022
a0001c0001t0014g0241
a0001c0001t0016g0047
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0021g0130
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0073g0246
a0001c0001t0075g0049
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0091g0042
a0001c0001t0094g0031
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0110g0023
a0001c0003t0007g0210
a0001c0004t0004g0046
a0001c0004t0072g0248
a0001c0008t0008g0001
a0001c0010t0011g0020
a0002c0002t0025g0149
a0004c0019t0112g0258
 73 HG00280.hp1
HG00438.hp1
HG00639.hp2
others(70): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp2
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp2
HG01099.hp1
HG01123.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01515.hp1
HG01516.hp1
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02300.hp1
HG02523.hp1
HG02559.hp1
HG02572.hp2
HG02602.hp2
HG02683.hp1
HG02717.hp1
HG02818.hp1
HG03239.hp2
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04228.hp1
HG06807.hp1
NA18940.hp2
NA18941.hp1
NA18945.hp1
NA18948.hp1
NA18950.hp1
NA18951.hp2
NA18952.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19240.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1892+31660T>C
c.1892+31660T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36865200
chr21:36865295 G
G
 A
A
 1 a0001c0001t0001g0041
a0001c0001t0001g0041
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.1892+31565C>T
c.1892+31565C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36865295
chr21:36865324 G
G
 A
A
 5 a0001c0001t0019g0247
a0001c0001t0031g0245
a0001c0001t0073g0246
others(2): Show 
a0001c0001t0019g0247
a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0004t0072g0248
a0002c0002t0025g0149
 5 HG02559.hp1
HG03471.hp2
HG03516.hp1
others(2): Show 
HG02559.hp1
HG03471.hp2
HG03516.hp1
HG06807.hp1
NA19240.hp1
 intron_variant MODIFIER c.1892+31536C>T
c.1892+31536C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36865324
chr21:36865377 C
C
 G
G
 86 a0001c0001t0001g0010
a0001c0001t0002g0165
a0001c0001t0002g0174
others(83): Show 
a0001c0001t0001g0010
a0001c0001t0002g0165
a0001c0001t0002g0174
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0045
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0006g0132
a0001c0001t0007g0194
a0001c0001t0008g0018
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0213
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0018g0176
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0022g0187
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0038g0054
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0008c0012t0035g0069
 86 HG00323.hp1
HG00639.hp1
HG00735.hp1
others(83): Show 
HG00323.hp1
HG00639.hp1
HG00735.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01175.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01978.hp1
HG02080.hp1
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03710.hp2
HG03831.hp2
HG04115.hp2
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18959.hp2
NA18961.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19084.hp1
NA19088.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+31483G>C
c.1892+31483G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36865377
chr21:36865395 A
A
 C
C
 1 a0001c0001t0093g0133
a0001c0001t0093g0133
 1 HG01099.hp2
HG01099.hp2
 intron_variant MODIFIER c.1892+31465T>G
c.1892+31465T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36865395
chr21:36865667 A
A
 G
G
 5 a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0041g0148
others(2): Show 
a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0041g0148
a0002c0002t0045g0151
a0002c0002t0062g0145
 5 HG00639.hp1
HG02280.hp2
HG03139.hp2
others(2): Show 
HG00639.hp1
HG02280.hp2
HG03139.hp2
HG03209.hp2
NA18522.hp1
 intron_variant MODIFIER c.1892+31193T>C
c.1892+31193T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36865667
chr21:36865917 C
C
 T
T
 234 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(231): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0075g0049
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 234 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(231): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18945.hp1
NA18945.hp2
NA18947.hp2
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1892+30943G>A
c.1892+30943G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36865917
chr21:36866052 T
T
 C
C
 1 a0002c0002t0045g0151
a0002c0002t0045g0151
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.1892+30808A>G
c.1892+30808A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36866052
chr21:36866131 T
T
 TA
TA
 257 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(254): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 257 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(254): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1892+30728dupT
c.1892+30728dupT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36866131
chr21:36866148 C
C
 A
A
 257 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(254): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 257 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(254): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1892+30712G>T
c.1892+30712G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36866148
chr21:36866155 G
G
 GT
GT
 257 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(254): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 257 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(254): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1892+30704dupA
c.1892+30704dupA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36866155
chr21:36866168 AC
AC
 A
A
 257 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(254): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 257 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(254): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1892+30691delG
c.1892+30691delG
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36866168
chr21:36866178 T
T
 TA
TA
 257 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(254): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 257 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(254): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1892+30681dupT
c.1892+30681dupT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36866178
chr21:36866222 A
A
 AG
AG
 257 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(254): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 257 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(254): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1892+30637dupC
c.1892+30637dupC
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36866222
chr21:36866242 G
G
 A
A
 257 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(254): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 257 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(254): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1892+30618C>T
c.1892+30618C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36866242
chr21:36866353 A
A
 G
G
 1 a0005c0011t0033g0139
a0005c0011t0033g0139
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.1892+30507T>C
c.1892+30507T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36866353
chr21:36866379 A
A
 G
G
 234 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(231): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0075g0049
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 234 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(231): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18945.hp1
NA18945.hp2
NA18947.hp2
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1892+30481T>C
c.1892+30481T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36866379
chr21:36866399 G
G
 A
A
 2 a0001c0001t0002g0174
a0001c0003t0003g0199
a0001c0001t0002g0174
a0001c0003t0003g0199
 2 HG03669.hp1
NA20805.hp2
HG03669.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+30461C>T
c.1892+30461C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36866399
chr21:36866660 G
G
 A
A
 2 a0002c0002t0018g0153
a0002c0002t0043g0152
a0002c0002t0018g0153
a0002c0002t0043g0152
 2 HG03471.hp1
NA18522.hp2
HG03471.hp1
NA18522.hp2
 intron_variant MODIFIER c.1892+30200C>T
c.1892+30200C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36866660
chr21:36866661 C
C
 A
A
 2 a0002c0002t0018g0153
a0002c0002t0043g0152
a0002c0002t0018g0153
a0002c0002t0043g0152
 2 HG03471.hp1
NA18522.hp2
HG03471.hp1
NA18522.hp2
 intron_variant MODIFIER c.1892+30199G>T
c.1892+30199G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36866661
chr21:36866840 GT
GT
 G
G
 18 a0001c0001t0005g0056
a0001c0001t0010g0213
a0001c0001t0015g0141
others(15): Show 
a0001c0001t0005g0056
a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0031g0057
a0001c0001t0037g0083
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0004t0072g0248
a0001c0013t0022g0177
a0002c0002t0025g0149
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0005c0011t0033g0139
a0008c0012t0035g0069
 18 HG01515.hp2
HG02280.hp1
HG02717.hp1
others(15): Show 
HG01515.hp2
HG02280.hp1
HG02717.hp1
HG02723.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG02976.hp2
HG03209.hp1
HG03453.hp1
HG03471.hp2
HG03540.hp2
HG03579.hp1
HG06807.hp1
NA18940.hp1
NA18942.hp1
NA20129.hp1
 intron_variant MODIFIER c.1892+30019delA
c.1892+30019delA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36866840
chr21:36866857 T
T
 A
A
 79 a0001c0001t0001g0006
a0001c0001t0001g0011
a0001c0001t0001g0017
others(76): Show 
a0001c0001t0001g0006
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0003g0175
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0058
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0094
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0014g0241
a0001c0001t0016g0047
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0021g0130
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0069g0255
a0001c0001t0073g0246
a0001c0001t0075g0049
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0110g0023
a0001c0003t0007g0210
a0001c0004t0004g0046
a0001c0004t0072g0248
a0001c0008t0008g0001
a0001c0010t0011g0020
a0002c0002t0025g0149
a0004c0019t0112g0258
 79 HG00280.hp1
HG00438.hp1
HG00639.hp2
others(76): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp2
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01123.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01515.hp1
HG01516.hp1
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02257.hp2
HG02300.hp1
HG02523.hp1
HG02559.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02683.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02922.hp1
HG03239.hp2
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04228.hp1
HG06807.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp2
NA18945.hp1
NA18948.hp1
NA18950.hp1
NA18951.hp2
NA18952.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18975.hp1
NA18977.hp1
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19240.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1892+30003A>T
c.1892+30003A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36866857
chr21:36866857 T
T
 TA
TA
 69 a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
others(66): Show 
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0004g0014
a0001c0001t0004g0138
a0001c0001t0005g0113
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0189
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0030g0257
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0071g0089
a0001c0001t0079g0026
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0003t0111g0137
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0002c0002t0046g0150
a0006c0016t0001g0116
a0007c0014t0070g0131
a0009c0009t0012g0196
 69 HG00280.hp2
HG00323.hp2
HG00438.hp2
others(66): Show 
HG00280.hp2
HG00323.hp2
HG00438.hp2
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01346.hp1
HG01496.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp1
HG02040.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02300.hp2
HG02486.hp2
HG02523.hp2
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03490.hp2
HG03492.hp2
HG03540.hp1
HG03579.hp2
HG03669.hp2
HG03704.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18612.hp2
NA18939.hp2
NA18941.hp2
NA18944.hp1
NA18945.hp2
NA18959.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18971.hp1
NA18975.hp2
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19030.hp2
NA19068.hp2
NA19074.hp2
NA19240.hp2
 intron_variant MODIFIER c.1892+30002dupT
c.1892+30002dupT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36866857
chr21:36866963 C
C
 G
G
 2 a0001c0001t0013g0223
a0002c0002t0046g0150
a0001c0001t0013g0223
a0002c0002t0046g0150
 2 HG03098.hp1
HG03579.hp2
HG03098.hp1
HG03579.hp2
 intron_variant MODIFIER c.1892+29897G>C
c.1892+29897G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36866963
chr21:36867199 G
G
 A
A
 85 a0001c0001t0001g0010
a0001c0001t0002g0165
a0001c0001t0002g0174
others(82): Show 
a0001c0001t0001g0010
a0001c0001t0002g0165
a0001c0001t0002g0174
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0045
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0006g0132
a0001c0001t0007g0194
a0001c0001t0008g0018
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0213
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0018g0176
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0022g0187
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0029g0051
a0001c0001t0038g0054
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0008c0012t0035g0069
 85 HG00323.hp1
HG00639.hp1
HG00735.hp1
others(82): Show 
HG00323.hp1
HG00639.hp1
HG00735.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01175.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01978.hp1
HG02080.hp1
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03710.hp2
HG03831.hp2
HG04115.hp2
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18959.hp2
NA18961.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19084.hp1
NA19088.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+29661C>T
c.1892+29661C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36867199
chr21:36867266 T
T
 A
A
 1 a0001c0001t0081g0016
a0001c0001t0081g0016
 1 HG03704.hp1
HG03704.hp1
 intron_variant MODIFIER c.1892+29594A>T
c.1892+29594A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36867266
chr21:36867283 G
G
 A
A
 68 a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
others(65): Show 
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0004g0014
a0001c0001t0004g0138
a0001c0001t0005g0113
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0189
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0028g0167
a0001c0001t0030g0257
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0039g0126
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0071g0089
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0003t0111g0137
a0001c0004t0017g0219
a0001c0004t0017g0220
a0002c0002t0046g0150
a0006c0016t0001g0116
a0007c0014t0070g0131
a0009c0009t0012g0196
 68 HG00280.hp2
HG00323.hp2
HG00438.hp2
others(65): Show 
HG00280.hp2
HG00323.hp2
HG00438.hp2
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01346.hp1
HG01496.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp1
HG02040.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp2
HG02300.hp2
HG02523.hp2
HG02615.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03490.hp2
HG03492.hp2
HG03540.hp1
HG03579.hp2
HG03669.hp2
HG03704.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18612.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18959.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18975.hp2
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19030.hp2
NA19068.hp2
NA19074.hp2
NA19240.hp2
 intron_variant MODIFIER c.1892+29577C>T
c.1892+29577C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36867283
chr21:36867583 C
C
 T
T
 1 a0001c0001t0012g0234
a0001c0001t0012g0234
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.1892+29277G>A
c.1892+29277G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36867583
chr21:36867663 G
G
 A
A
 3 a0001c0001t0011g0022
a0001c0001t0079g0026
a0001c0001t0110g0023
a0001c0001t0011g0022
a0001c0001t0079g0026
a0001c0001t0110g0023
 3 NA18968.hp1
NA18971.hp1
NA18977.hp1
NA18968.hp1
NA18971.hp1
NA18977.hp1
 intron_variant MODIFIER c.1892+29197C>T
c.1892+29197C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36867663
chr21:36867727 C
C
 G
G
 8 a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0003g0175
others(5): Show 
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0003g0175
a0001c0001t0008g0055
a0001c0001t0011g0022
a0001c0001t0079g0026
a0001c0001t0091g0042
a0001c0001t0110g0023
 8 HG02129.hp2
HG02602.hp2
HG02683.hp1
others(5): Show 
HG02129.hp2
HG02602.hp2
HG02683.hp1
NA18948.hp1
NA18951.hp2
NA18968.hp1
NA18971.hp1
NA18977.hp1
 intron_variant MODIFIER c.1892+29133G>C
c.1892+29133G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36867727
chr21:36867730 C
C
 T
T
 1 a0001c0001t0012g0234
a0001c0001t0012g0234
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.1892+29130G>A
c.1892+29130G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36867730
chr21:36868149 C
C
 G
G
 1 a0001c0001t0066g0059
a0001c0001t0066g0059
 1 HG01106.hp2
HG01106.hp2
 intron_variant MODIFIER c.1892+28711G>C
c.1892+28711G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36868149
chr21:36868186 A
A
 G
G
 1 a0001c0001t0005g0056
a0001c0001t0005g0056
 1 NA18942.hp1
NA18942.hp1
 intron_variant MODIFIER c.1892+28674T>C
c.1892+28674T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36868186
chr21:36868192 G
G
 GAAGGGAA
others(17): Show 
GAAGGGAAAAGGGAAGGAAAAAGGA
 85 a0001c0001t0001g0010
a0001c0001t0002g0165
a0001c0001t0002g0174
others(82): Show 
a0001c0001t0001g0010
a0001c0001t0002g0165
a0001c0001t0002g0174
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0045
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0006g0132
a0001c0001t0007g0194
a0001c0001t0008g0018
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0213
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0018g0176
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0022g0187
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0029g0051
a0001c0001t0038g0054
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0008c0012t0035g0069
 85 HG00323.hp1
HG00639.hp1
HG00735.hp1
others(82): Show 
HG00323.hp1
HG00639.hp1
HG00735.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01175.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01978.hp1
HG02080.hp1
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03710.hp2
HG03831.hp2
HG04115.hp2
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18959.hp2
NA18961.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19084.hp1
NA19088.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+28667_1892+28
others(30): Show 
c.1892+28667_1892+28668insTCCTTTTTCCTTCCCTTTTCCCTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36868192
chr21:36868253 A
A
 G
G
 1 a0005c0011t0033g0139
a0005c0011t0033g0139
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.1892+28607T>C
c.1892+28607T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36868253
chr21:36868257 G
G
 A
A
 1 a0005c0011t0033g0139
a0005c0011t0033g0139
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.1892+28603C>T
c.1892+28603C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36868257
chr21:36868258 A
A
 G
G
 1 a0005c0011t0033g0139
a0005c0011t0033g0139
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.1892+28602T>C
c.1892+28602T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36868258
chr21:36868270 G
G
 GGAAAGAA
others(21): Show 
GGAAAGAAAGAAAGAAAGAAAGAAAGAAA
 1 a0005c0011t0033g0139
a0005c0011t0033g0139
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.1892+28589_1892+28
others(34): Show 
c.1892+28589_1892+28590insTTTCTTTCTTTCTTTCTTTCTTTC
TTTC
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36868270
chr21:36868270 G
G
 GGAAAGAA
others(29): Show 
GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA
 1 a0001c0004t0042g0209
a0001c0004t0042g0209
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.1892+28589_1892+28
others(42): Show 
c.1892+28589_1892+28590insTTTCTTTCTTTCTTTCTTTCTTTC
TTTCTTTCTTTC
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36868270
chr21:36868274 G
G
 A
A
 2 a0001c0004t0042g0209
a0005c0011t0033g0139
a0001c0004t0042g0209
a0005c0011t0033g0139
 2 HG00735.hp1
HG02976.hp2
HG00735.hp1
HG02976.hp2
 intron_variant MODIFIER c.1892+28586C>T
c.1892+28586C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36868274
chr21:36868274 G
G
 GAAAGAAA
others(32): Show 
GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA
 1 a0002c0002t0003g0156
a0002c0002t0003g0156
 1 NA18961.hp1
NA18961.hp1
 intron_variant MODIFIER c.1892+28585_1892+28
others(45): Show 
c.1892+28585_1892+28586insTTTCTTTCTTTCTTTCTTTCTTTC
TTTCTTTCTTTCTTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36868274
chr21:36868274 G
G
 GAAGAAAG
others(35): Show 
GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA
 1 a0001c0001t0008g0018
a0001c0001t0008g0018
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.1892+28585_1892+28
others(48): Show 
c.1892+28585_1892+28586insTTTCTTTCTTTCTTTCTTTCTTTC
TTTCTTTCTTTCTTTCTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36868274
chr21:36868274 G
G
 GGAAAGAA
others(1): Show 
GGAAAGAAA
 3 a0001c0001t0018g0176
a0001c0001t0051g0168
a0001c0013t0022g0177
a0001c0001t0018g0176
a0001c0001t0051g0168
a0001c0013t0022g0177
 3 HG02886.hp2
HG02896.hp2
HG03130.hp1
HG02886.hp2
HG02896.hp2
HG03130.hp1
 intron_variant MODIFIER c.1892+28578_1892+28
others(14): Show 
c.1892+28578_1892+28585dupTTTCTTTC
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36868274
chr21:36868274 G
G
 GGAAAGAA
others(13): Show 
GGAAAGAAAGAAAGAAAGAAA
 6 a0001c0001t0006g0132
a0001c0006t0023g0212
a0001c0006t0023g0222
others(3): Show 
a0001c0001t0006g0132
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
a0002c0002t0025g0146
a0002c0002t0041g0148
 6 HG00639.hp1
HG02145.hp1
HG02280.hp2
others(3): Show 
HG00639.hp1
HG02145.hp1
HG02280.hp2
HG02976.hp1
HG03195.hp1
NA19043.hp2
 intron_variant MODIFIER c.1892+28566_1892+28
others(26): Show 
c.1892+28566_1892+28585dupTTTCTTTCTTTCTTTCTTTC
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36868274
chr21:36868274 G
G
 GGAAAGAA
others(17): Show 
GGAAAGAAAGAAAGAAAGAAAGAAA
 3 a0001c0001t0109g0119
a0002c0002t0062g0145
a0003c0005t0092g0134
a0001c0001t0109g0119
a0002c0002t0062g0145
a0003c0005t0092g0134
 3 HG01175.hp2
HG02965.hp2
HG03209.hp2
HG01175.hp2
HG02965.hp2
HG03209.hp2
 intron_variant MODIFIER c.1892+28585_1892+28
others(30): Show 
c.1892+28585_1892+28586insTTTCTTTCTTTCTTTCTTTCTTTC
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36868274
chr21:36868274 G
G
 GGAAAGAA
others(21): Show 
GGAAAGAAAGAAAGAAAGAAAGAAAGAAA
 14 a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
others(11): Show 
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0004g0045
a0001c0001t0049g0233
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0003t0003g0204
a0001c0018t0004g0060
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0048g0144
 14 HG01106.hp2
HG01884.hp2
HG02486.hp1
others(11): Show 
HG01106.hp2
HG01884.hp2
HG02486.hp1
HG02572.hp1
HG02622.hp1
HG02622.hp2
HG03041.hp2
HG03471.hp1
HG03516.hp2
NA18522.hp1
NA18971.hp2
NA18977.hp2
NA19009.hp2
NA19084.hp1
 intron_variant MODIFIER c.1892+28585_1892+28
others(34): Show 
c.1892+28585_1892+28586insTTTCTTTCTTTCTTTCTTTCTTTC
TTTC
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36868274
chr21:36868274 G
G
 GGAAAGAA
others(25): Show 
GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA
 13 a0001c0001t0001g0010
a0001c0001t0019g0061
a0001c0001t0019g0101
others(10): Show 
a0001c0001t0001g0010
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0029g0051
a0001c0001t0038g0054
a0001c0001t0107g0050
a0001c0003t0054g0217
a0002c0002t0002g0143
a0002c0002t0002g0155
a0002c0002t0013g0147
a0008c0012t0035g0069
 13 HG01109.hp1
HG01257.hp2
HG01258.hp1
others(10): Show 
HG01109.hp1
HG01257.hp2
HG01258.hp1
HG02129.hp1
HG02602.hp1
HG02818.hp2
HG02922.hp2
HG03139.hp2
HG03453.hp2
NA18940.hp1
NA18959.hp2
NA19030.hp1
NA19088.hp1
 intron_variant MODIFIER c.1892+28585_1892+28
others(38): Show 
c.1892+28585_1892+28586insTTTCTTTCTTTCTTTCTTTCTTTC
TTTCTTTC
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36868274
chr21:36868274 G
G
 GGAAAGAA
others(29): Show 
GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA
 11 a0001c0001t0003g0228
a0001c0001t0005g0052
a0001c0001t0005g0115
others(8): Show 
a0001c0001t0003g0228
a0001c0001t0005g0052
a0001c0001t0005g0115
a0001c0001t0013g0240
a0001c0001t0057g0225
a0001c0003t0060g0203
a0002c0002t0002g0154
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0027g0157
a0002c0002t0064g0243
 11 HG02135.hp2
HG02723.hp1
HG03041.hp1
others(8): Show 
HG02135.hp2
HG02723.hp1
HG03041.hp1
HG04115.hp2
NA18522.hp2
NA18939.hp1
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18979.hp1
NA19043.hp1
 intron_variant MODIFIER c.1892+28585_1892+28
others(42): Show 
c.1892+28585_1892+28586insTTTCTTTCTTTCTTTCTTTCTTTC
TTTCTTTCTTTC
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36868274
chr21:36868274 G
G
 GGAAAGAA
others(33): Show 
GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA
 3 a0001c0001t0003g0230
a0001c0001t0013g0231
a0001c0015t0052g0239
a0001c0001t0003g0230
a0001c0001t0013g0231
a0001c0015t0052g0239
 3 HG02080.hp1
HG03710.hp2
HG04228.hp2
HG02080.hp1
HG03710.hp2
HG04228.hp2
 intron_variant MODIFIER c.1892+28585_1892+28
others(46): Show 
c.1892+28585_1892+28586insTTTCTTTCTTTCTTTCTTTCTTTC
TTTCTTTCTTTCTTTC
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36868274
chr21:36868274 G
G
 GGAAAGAA
others(37): Show 
GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA
 3 a0001c0001t0003g0226
a0001c0001t0005g0056
a0003c0005t0027g0218
a0001c0001t0003g0226
a0001c0001t0005g0056
a0003c0005t0027g0218
 3 HG03579.hp1
NA18942.hp1
NA18984.hp1
HG03579.hp1
NA18942.hp1
NA18984.hp1
 intron_variant MODIFIER c.1892+28585_1892+28
others(50): Show 
c.1892+28585_1892+28586insTTTCTTTCTTTCTTTCTTTCTTTC
TTTCTTTCTTTCTTTCTTTC
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36868274
chr21:36868274 G
G
 GGAAAGAA
others(41): Show 
GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA
 2 a0002c0002t0040g0242
a0003c0005t0002g0195
a0002c0002t0040g0242
a0003c0005t0002g0195
 2 HG02559.hp2
NA20129.hp1
HG02559.hp2
NA20129.hp1
 intron_variant MODIFIER c.1892+28585_1892+28
others(54): Show 
c.1892+28585_1892+28586insTTTCTTTCTTTCTTTCTTTCTTTC
TTTCTTTCTTTCTTTCTTTCTTTC
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36868274
chr21:36868274 G
G
 GGAAGGAA
others(13): Show 
GGAAGGAAAGAAAGAAAGAAA
 12 a0001c0001t0002g0165
a0001c0001t0002g0174
a0001c0001t0007g0194
others(9): Show 
a0001c0001t0002g0165
a0001c0001t0002g0174
a0001c0001t0007g0194
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0007t0007g0200
a0001c0007t0012g0207
 12 HG00323.hp1
HG01106.hp1
HG01109.hp2
others(9): Show 
HG00323.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01978.hp1
HG02257.hp1
HG03669.hp1
HG03831.hp2
NA20805.hp2
 intron_variant MODIFIER c.1892+28585_1892+28
others(26): Show 
c.1892+28585_1892+28586insTTTCTTTCTTTCTTTCCTTC
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36868274
chr21:36868274 G
G
 GGAAGGAA
others(17): Show 
GGAAGGAAAGAAAGAAAGAAAGAAA
 1 a0001c0004t0068g0088
a0001c0004t0068g0088
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.1892+28585_1892+28
others(30): Show 
c.1892+28585_1892+28586insTTTCTTTCTTTCTTTCTTTCCTTC
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36868274
chr21:36868274 G
G
 GGAAGGAA
others(21): Show 
GGAAGGAAAGAAAGAAAGAAAGAAAGAAA
 2 a0001c0001t0022g0187
a0001c0004t0067g0067
a0001c0001t0022g0187
a0001c0004t0067g0067
 2 HG01884.hp1
HG01891.hp1
HG01884.hp1
HG01891.hp1
 intron_variant MODIFIER c.1892+28585_1892+28
others(34): Show 
c.1892+28585_1892+28586insTTTCTTTCTTTCTTTCTTTCTTTC
CTTC
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36868274
chr21:36868274 G
G
 GGAAGGAA
others(33): Show 
GGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA
 2 a0001c0001t0015g0141
a0001c0001t0015g0197
a0001c0001t0015g0141
a0001c0001t0015g0197
 2 HG02886.hp1
HG03453.hp1
HG02886.hp1
HG03453.hp1
 intron_variant MODIFIER c.1892+28585_1892+28
others(46): Show 
c.1892+28585_1892+28586insTTTCTTTCTTTCTTTCTTTCTTTC
TTTCTTTCTTTCCTTC
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36868274
chr21:36868274 G
G
 GGAAGGAA
others(37): Show 
GGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA
 1 a0001c0001t0063g0208
a0001c0001t0063g0208
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.1892+28585_1892+28
others(50): Show 
c.1892+28585_1892+28586insTTTCTTTCTTTCTTTCTTTCTTTC
TTTCTTTCTTTCTTTCCTTC
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36868274
chr21:36868274 G
G
 GGAAGGAA
others(41): Show 
GGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA
 3 a0001c0001t0015g0190
a0001c0001t0047g0188
a0003c0005t0058g0214
a0001c0001t0015g0190
a0001c0001t0047g0188
a0003c0005t0058g0214
 3 HG02895.hp2
HG02965.hp1
HG03540.hp2
HG02895.hp2
HG02965.hp1
HG03540.hp2
 intron_variant MODIFIER c.1892+28585_1892+28
others(54): Show 
c.1892+28585_1892+28586insTTTCTTTCTTTCTTTCTTTCTTTC
TTTCTTTCTTTCTTTCTTTCCTTC
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36868274
chr21:36868274 G
G
 GGAAGGAA
others(45): Show 
GGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG
AAA
 2 a0001c0001t0010g0213
a0001c0001t0056g0198
a0001c0001t0010g0213
a0001c0001t0056g0198
 2 HG02723.hp2
HG03209.hp1
HG02723.hp2
HG03209.hp1
 intron_variant MODIFIER c.1892+28585_1892+28
others(58): Show 
c.1892+28585_1892+28586insTTTCTTTCTTTCTTTCTTTCTTTC
TTTCTTTCTTTCTTTCTTTCTTTCCTTC
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36868274
chr21:36868274 GGAAA
GGAAA
 G
G
 3 a0001c0001t0001g0122
a0001c0001t0008g0078
a0001c0001t0059g0180
a0001c0001t0001g0122
a0001c0001t0008g0078
a0001c0001t0059g0180
 3 HG01070.hp1
HG01346.hp1
HG03927.hp1
HG01070.hp1
HG01346.hp1
HG03927.hp1
 intron_variant MODIFIER c.1892+28582_1892+28
others(10): Show 
c.1892+28582_1892+28585delTTTC
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36868274
chr21:36868295 A
A
 G
G
 5 a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0041g0148
others(2): Show 
a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0041g0148
a0002c0002t0045g0151
a0002c0002t0062g0145
 5 HG00639.hp1
HG02280.hp2
HG03139.hp2
others(2): Show 
HG00639.hp1
HG02280.hp2
HG03139.hp2
HG03209.hp2
NA18522.hp1
 intron_variant MODIFIER c.1892+28565T>C
c.1892+28565T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36868295
chr21:36868404 G
G
 T
T
 1 a0001c0001t0020g0002
a0001c0001t0020g0002
 1 NA19004.hp1
NA19004.hp1
 intron_variant MODIFIER c.1892+28456C>A
c.1892+28456C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36868404
chr21:36868477 T
T
 C
C
 12 a0001c0001t0002g0165
a0001c0001t0002g0174
a0001c0001t0007g0194
others(9): Show 
a0001c0001t0002g0165
a0001c0001t0002g0174
a0001c0001t0007g0194
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0007t0007g0200
a0001c0007t0012g0207
 12 HG00323.hp1
HG01106.hp1
HG01109.hp2
others(9): Show 
HG00323.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01978.hp1
HG02257.hp1
HG03669.hp1
HG03831.hp2
NA20805.hp2
 intron_variant MODIFIER c.1892+28383A>G
c.1892+28383A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36868477
chr21:36868522 C
C
 T
T
 85 a0001c0001t0001g0010
a0001c0001t0002g0165
a0001c0001t0002g0174
others(82): Show 
a0001c0001t0001g0010
a0001c0001t0002g0165
a0001c0001t0002g0174
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0045
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0006g0132
a0001c0001t0007g0194
a0001c0001t0008g0018
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0213
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0018g0176
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0022g0187
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0029g0051
a0001c0001t0038g0054
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0008c0012t0035g0069
 85 HG00323.hp1
HG00639.hp1
HG00735.hp1
others(82): Show 
HG00323.hp1
HG00639.hp1
HG00735.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01175.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01978.hp1
HG02080.hp1
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03710.hp2
HG03831.hp2
HG04115.hp2
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18959.hp2
NA18961.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19084.hp1
NA19088.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+28338G>A
c.1892+28338G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36868522
chr21:36868601 G
G
 T
T
 3 a0001c0001t0002g0238
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0002g0238
a0001c0001t0009g0235
a0001c0001t0009g0236
 3 HG01255.hp1
HG01361.hp2
NA20129.hp2
HG01255.hp1
HG01361.hp2
NA20129.hp2
 intron_variant MODIFIER c.1892+28259C>A
c.1892+28259C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36868601
chr21:36868640 C
C
 T
T
 6 a0001c0001t0012g0234
a0001c0001t0018g0189
a0001c0001t0024g0191
others(3): Show 
a0001c0001t0012g0234
a0001c0001t0018g0189
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0004t0017g0219
a0001c0004t0017g0220
 6 HG01952.hp2
HG02896.hp1
HG02897.hp2
others(3): Show 
HG01952.hp2
HG02896.hp1
HG02897.hp2
HG03098.hp2
HG03225.hp2
HG04204.hp1
 intron_variant MODIFIER c.1892+28220G>A
c.1892+28220G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36868640
chr21:36868658 T
T
 TA
TA
 8 a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0018g0189
others(5): Show 
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0018g0189
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0004t0017g0219
a0001c0004t0017g0220
a0002c0002t0046g0150
 8 HG01952.hp2
HG02896.hp1
HG02897.hp2
others(5): Show 
HG01952.hp2
HG02896.hp1
HG02897.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG03579.hp2
HG04204.hp1
 intron_variant MODIFIER c.1892+28201dupT
c.1892+28201dupT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36868658
chr21:36868670 G
G
 A
A
 69 a0001c0001t0001g0011
a0001c0001t0001g0077
a0001c0001t0001g0120
others(66): Show 
a0001c0001t0001g0011
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0004g0014
a0001c0001t0004g0138
a0001c0001t0005g0113
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0189
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0028g0167
a0001c0001t0030g0257
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0039g0126
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0071g0089
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0003t0111g0137
a0001c0004t0017g0219
a0001c0004t0017g0220
a0002c0002t0046g0150
a0006c0016t0001g0116
a0007c0014t0070g0131
a0009c0009t0012g0196
 69 HG00280.hp2
HG00323.hp2
HG00438.hp2
others(66): Show 
HG00280.hp2
HG00323.hp2
HG00438.hp2
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01346.hp1
HG01496.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp1
HG02040.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp2
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02615.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03490.hp2
HG03492.hp2
HG03540.hp1
HG03579.hp2
HG03669.hp2
HG03704.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18612.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18959.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18975.hp2
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19030.hp2
NA19068.hp2
NA19074.hp2
NA19240.hp2
 intron_variant MODIFIER c.1892+28190C>T
c.1892+28190C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36868670
chr21:36868749 C
C
 A
A
 32 a0001c0001t0002g0193
a0001c0001t0005g0052
a0001c0001t0006g0132
others(29): Show 
a0001c0001t0002g0193
a0001c0001t0005g0052
a0001c0001t0006g0132
a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0019g0061
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0029g0051
a0001c0001t0038g0054
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
 32 HG00639.hp1
HG01109.hp1
HG01257.hp2
others(29): Show 
HG00639.hp1
HG01109.hp1
HG01257.hp2
HG01258.hp1
HG01884.hp2
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02559.hp2
HG02572.hp1
HG02723.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03540.hp2
HG03579.hp1
NA18522.hp1
NA18522.hp2
NA19043.hp1
NA19043.hp2
NA20129.hp1
 intron_variant MODIFIER c.1892+28111G>T
c.1892+28111G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36868749
chr21:36868750 G
G
 A
A
 1 a0001c0004t0042g0209
a0001c0004t0042g0209
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.1892+28110C>T
c.1892+28110C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36868750
chr21:36868827 C
C
 T
T
 1 a0001c0008t0008g0001
a0001c0008t0008g0001
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.1892+28033G>A
c.1892+28033G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36868827
chr21:36869001 G
G
 A
A
 83 a0001c0001t0001g0010
a0001c0001t0002g0165
a0001c0001t0002g0174
others(80): Show 
a0001c0001t0001g0010
a0001c0001t0002g0165
a0001c0001t0002g0174
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0045
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0006g0132
a0001c0001t0007g0194
a0001c0001t0008g0018
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0213
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0018g0176
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0029g0051
a0001c0001t0038g0054
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0042g0209
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0008c0012t0035g0069
 83 HG00323.hp1
HG00639.hp1
HG00735.hp1
others(80): Show 
HG00323.hp1
HG00639.hp1
HG00735.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01175.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01884.hp2
HG01978.hp1
HG02080.hp1
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03710.hp2
HG03831.hp2
HG04115.hp2
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18959.hp2
NA18961.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19084.hp1
NA19088.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+27859C>T
c.1892+27859C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36869001
chr21:36869052 C
C
 CT
CT
 162 a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0077
others(159): Show 
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0014
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0257
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0093g0133
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 162 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(159): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00639.hp1
HG00735.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02080.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp2
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19074.hp2
NA19084.hp1
NA19088.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+27807dupA
c.1892+27807dupA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36869052
chr21:36869097 A
A
 AATTT
AATTT
 10 a0001c0001t0001g0037
a0001c0001t0001g0066
a0001c0001t0001g0074
others(7): Show 
a0001c0001t0001g0037
a0001c0001t0001g0066
a0001c0001t0001g0074
a0001c0001t0006g0029
a0001c0001t0016g0047
a0001c0001t0031g0057
a0001c0001t0034g0030
a0001c0001t0039g0033
a0001c0001t0077g0039
a0001c0001t0100g0073
 10 HG00280.hp1
HG00738.hp2
HG01099.hp1
others(7): Show 
HG00280.hp1
HG00738.hp2
HG01099.hp1
HG01169.hp2
HG02027.hp1
HG02717.hp1
HG03239.hp2
HG03710.hp1
NA18993.hp1
NA19057.hp2
 intron_variant MODIFIER c.1892+27759_1892+27
others(10): Show 
c.1892+27759_1892+27762dupAAAT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36869097
chr21:36869097 A
A
 AATTTATT
others(5): Show 
AATTTATTTATTT
 1 a0001c0001t0081g0016
a0001c0001t0081g0016
 1 HG03704.hp1
HG03704.hp1
 intron_variant MODIFIER c.1892+27751_1892+27
others(18): Show 
c.1892+27751_1892+27762dupAAATAAATAAAT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36869097
chr21:36869097 A
A
 T
T
 1 a0001c0001t0021g0130
a0001c0001t0021g0130
 1 HG02027.hp2
HG02027.hp2
 intron_variant MODIFIER c.1892+27763T>A
c.1892+27763T>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36869097
chr21:36869097 AATTT
AATTT
 A
A
 2 a0001c0001t0006g0125
a0001c0001t0036g0140
a0001c0001t0006g0125
a0001c0001t0036g0140
 2 HG01123.hp1
HG01516.hp2
HG01123.hp1
HG01516.hp2
 intron_variant MODIFIER c.1892+27759_1892+27
others(10): Show 
c.1892+27759_1892+27762delAAAT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36869097
chr21:36869097 AATTTATT
others(1): Show 
AATTTATTT
 A
A
 99 a0001c0001t0001g0011
a0001c0001t0001g0077
a0001c0001t0001g0080
others(96): Show 
a0001c0001t0001g0011
a0001c0001t0001g0077
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0004g0014
a0001c0001t0004g0138
a0001c0001t0005g0086
a0001c0001t0005g0113
a0001c0001t0005g0135
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0189
a0001c0001t0019g0247
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0028g0167
a0001c0001t0029g0136
a0001c0001t0030g0257
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0039g0126
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0076g0090
a0001c0001t0078g0108
a0001c0001t0080g0093
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0093g0133
a0001c0001t0095g0117
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0003t0111g0137
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0072g0248
a0002c0002t0025g0149
a0002c0002t0046g0150
a0006c0016t0001g0116
a0007c0014t0070g0131
a0009c0009t0012g0196
 99 HG00280.hp2
HG00323.hp2
HG00438.hp2
others(96): Show 
HG00280.hp2
HG00323.hp2
HG00438.hp2
HG00673.hp1
HG00735.hp2
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01099.hp2
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01255.hp1
HG01346.hp1
HG01361.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01891.hp2
HG01952.hp2
HG01975.hp1
HG01981.hp1
HG02040.hp1
HG02040.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp2
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03490.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp2
HG03669.hp2
HG03704.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18959.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18975.hp2
NA18979.hp2
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp2
NA19004.hp2
NA19030.hp2
NA19057.hp1
NA19068.hp2
NA19074.hp2
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.1892+27755_1892+27
others(14): Show 
c.1892+27755_1892+27762delAAATAAAT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36869097
chr21:36869097 AATTTATT
others(5): Show 
AATTTATTTATTT
 A
A
 77 a0001c0001t0001g0010
a0001c0001t0002g0193
a0001c0001t0002g0232
others(74): Show 
a0001c0001t0001g0010
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0045
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0006g0132
a0001c0001t0008g0018
a0001c0001t0010g0213
a0001c0001t0010g0249
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0018g0176
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0022g0187
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0038g0054
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0008c0012t0035g0069
 77 HG00639.hp1
HG00735.hp1
HG01106.hp2
others(74): Show 
HG00639.hp1
HG00735.hp1
HG01106.hp2
HG01109.hp1
HG01175.hp2
HG01257.hp2
HG01258.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG02080.hp1
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03710.hp2
HG04115.hp2
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18959.hp2
NA18961.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19084.hp1
NA19088.hp1
NA20129.hp1
 intron_variant MODIFIER c.1892+27751_1892+27
others(18): Show 
c.1892+27751_1892+27762delAAATAAATAAAT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36869097
chr21:36869097 AATTTATT
others(9): Show 
AATTTATTTATTTATTT
 A
A
 12 a0001c0001t0002g0165
a0001c0001t0002g0174
a0001c0001t0007g0194
others(9): Show 
a0001c0001t0002g0165
a0001c0001t0002g0174
a0001c0001t0007g0194
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0007t0007g0200
a0001c0007t0012g0207
 12 HG00323.hp1
HG01106.hp1
HG01109.hp2
others(9): Show 
HG00323.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01978.hp1
HG02257.hp1
HG03669.hp1
HG03831.hp2
NA20805.hp2
 intron_variant MODIFIER c.1892+27747_1892+27
others(22): Show 
c.1892+27747_1892+27762delAAATAAATAAATAAAT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36869097
chr21:36869109 T
T
 A
A
 4 a0001c0001t0001g0080
a0001c0001t0005g0086
a0001c0001t0036g0123
others(1): Show 
a0001c0001t0001g0080
a0001c0001t0005g0086
a0001c0001t0036g0123
a0001c0001t0104g0114
 4 HG02040.hp2
NA18944.hp2
NA18948.hp2
others(1): Show 
HG02040.hp2
NA18944.hp2
NA18948.hp2
NA18952.hp1
 intron_variant MODIFIER c.1892+27751A>T
c.1892+27751A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36869109
chr21:36869113 T
T
 A
A
 73 a0001c0001t0001g0010
a0001c0001t0002g0193
a0001c0001t0002g0232
others(70): Show 
a0001c0001t0001g0010
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0045
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0006g0132
a0001c0001t0008g0018
a0001c0001t0010g0213
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0018g0176
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0022g0187
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0029g0051
a0001c0001t0038g0054
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0008c0012t0035g0069
 73 HG00639.hp1
HG00735.hp1
HG01106.hp2
others(70): Show 
HG00639.hp1
HG00735.hp1
HG01106.hp2
HG01109.hp1
HG01175.hp2
HG01257.hp2
HG01258.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG02080.hp1
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03710.hp2
HG04115.hp2
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18959.hp2
NA18961.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19084.hp1
NA19088.hp1
NA20129.hp1
 intron_variant MODIFIER c.1892+27747A>T
c.1892+27747A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36869113
chr21:36869117 T
T
 A
A
 85 a0001c0001t0001g0010
a0001c0001t0002g0165
a0001c0001t0002g0174
others(82): Show 
a0001c0001t0001g0010
a0001c0001t0002g0165
a0001c0001t0002g0174
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0045
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0006g0132
a0001c0001t0007g0194
a0001c0001t0008g0018
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0213
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0018g0176
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0022g0187
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0029g0051
a0001c0001t0038g0054
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0008c0012t0035g0069
 85 HG00323.hp1
HG00639.hp1
HG00735.hp1
others(82): Show 
HG00323.hp1
HG00639.hp1
HG00735.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01175.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01978.hp1
HG02080.hp1
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03710.hp2
HG03831.hp2
HG04115.hp2
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18959.hp2
NA18961.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19084.hp1
NA19088.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+27743A>T
c.1892+27743A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36869117
chr21:36869121 T
T
 A
A
 72 a0001c0001t0001g0010
a0001c0001t0002g0165
a0001c0001t0002g0174
others(69): Show 
a0001c0001t0001g0010
a0001c0001t0002g0165
a0001c0001t0002g0174
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0045
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0006g0132
a0001c0001t0007g0194
a0001c0001t0008g0018
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0213
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0018g0176
a0001c0001t0019g0101
a0001c0001t0022g0187
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0048g0144
a0002c0002t0062g0145
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0008c0012t0035g0069
 72 HG00323.hp1
HG00639.hp1
HG00735.hp1
others(69): Show 
HG00323.hp1
HG00639.hp1
HG00735.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01168.hp1
HG01175.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01978.hp1
HG02080.hp1
HG02129.hp1
HG02145.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp2
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03710.hp2
HG03831.hp2
HG04115.hp2
HG04228.hp2
NA18522.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18959.hp2
NA18961.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp2
NA19084.hp1
NA19088.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+27739A>T
c.1892+27739A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36869121
chr21:36869125 T
T
 A
A
 15 a0001c0001t0002g0165
a0001c0001t0002g0174
a0001c0001t0003g0228
others(12): Show 
a0001c0001t0002g0165
a0001c0001t0002g0174
a0001c0001t0003g0228
a0001c0001t0007g0194
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0013g0240
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0007t0007g0200
a0001c0007t0012g0207
a0002c0002t0048g0144
 15 HG00323.hp1
HG01106.hp1
HG01109.hp2
others(12): Show 
HG00323.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01978.hp1
HG02257.hp1
HG03516.hp2
HG03669.hp1
HG03831.hp2
NA18939.hp1
NA18950.hp2
NA20805.hp2
 intron_variant MODIFIER c.1892+27735A>T
c.1892+27735A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36869125
chr21:36869334 G
G
 T
T
 23 a0001c0001t0002g0193
a0001c0001t0005g0052
a0001c0001t0006g0132
others(20): Show 
a0001c0001t0002g0193
a0001c0001t0005g0052
a0001c0001t0006g0132
a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0019g0061
a0001c0001t0029g0051
a0001c0001t0038g0054
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
a0002c0002t0018g0153
a0002c0002t0043g0152
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
 23 HG01109.hp1
HG01884.hp2
HG02145.hp1
others(20): Show 
HG01109.hp1
HG01884.hp2
HG02145.hp1
HG02280.hp1
HG02572.hp1
HG02723.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03195.hp1
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03540.hp2
HG03579.hp1
NA18522.hp2
NA19043.hp1
NA19043.hp2
NA20129.hp1
 intron_variant MODIFIER c.1892+27526C>A
c.1892+27526C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36869334
chr21:36869742 A
A
 C
C
 1 a0001c0001t0011g0103
a0001c0001t0011g0103
 1 NA18975.hp2
NA18975.hp2
 intron_variant MODIFIER c.1892+27118T>G
c.1892+27118T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36869742
chr21:36869756 G
G
 A
A
 83 a0001c0001t0001g0010
a0001c0001t0002g0165
a0001c0001t0002g0174
others(80): Show 
a0001c0001t0001g0010
a0001c0001t0002g0165
a0001c0001t0002g0174
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0045
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0006g0132
a0001c0001t0007g0194
a0001c0001t0008g0018
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0213
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0018g0176
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0022g0187
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0029g0051
a0001c0001t0038g0054
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0008c0012t0035g0069
 83 HG00323.hp1
HG00639.hp1
HG01106.hp1
others(80): Show 
HG00323.hp1
HG00639.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01175.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01978.hp1
HG02080.hp1
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03710.hp2
HG03831.hp2
HG04115.hp2
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18959.hp2
NA18961.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19084.hp1
NA19088.hp1
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+27104C>T
c.1892+27104C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36869756
chr21:36870005 T
T
 C
C
 4 a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0004t0017g0219
others(1): Show 
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0004t0017g0219
a0001c0004t0017g0220
 4 HG02896.hp1
HG02897.hp2
HG03098.hp2
others(1): Show 
HG02896.hp1
HG02897.hp2
HG03098.hp2
HG03225.hp2
 intron_variant MODIFIER c.1892+26855A>G
c.1892+26855A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36870005
chr21:36870156 C
C
 T
T
 1 a0005c0011t0033g0139
a0005c0011t0033g0139
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.1892+26704G>A
c.1892+26704G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36870156
chr21:36870160 C
C
 G
G
 24 a0001c0001t0001g0010
a0001c0001t0002g0232
a0001c0001t0002g0237
others(21): Show 
a0001c0001t0001g0010
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0011g0118
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0018g0176
a0001c0001t0019g0101
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0057g0225
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0013t0022g0177
a0001c0015t0052g0239
a0008c0012t0035g0069
 24 HG02080.hp1
HG02129.hp1
HG02683.hp1
others(21): Show 
HG02080.hp1
HG02129.hp1
HG02683.hp1
HG02886.hp2
HG02896.hp2
HG03130.hp1
HG03710.hp2
HG04115.hp2
HG04204.hp2
HG04228.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18947.hp1
NA18947.hp2
NA18950.hp2
NA18959.hp2
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19030.hp1
NA19084.hp1
 intron_variant MODIFIER c.1892+26700G>C
c.1892+26700G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36870160
chr21:36870397 T
T
 C
C
 2 a0002c0002t0040g0242
a0002c0002t0064g0243
a0002c0002t0040g0242
a0002c0002t0064g0243
 2 HG02559.hp2
HG03041.hp1
HG02559.hp2
HG03041.hp1
 intron_variant MODIFIER c.1892+26463A>G
c.1892+26463A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36870397
chr21:36870546 G
G
 A
A
 1 a0001c0004t0042g0209
a0001c0004t0042g0209
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.1892+26314C>T
c.1892+26314C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36870546
chr21:36870628 T
T
 C
C
 4 a0001c0001t0010g0249
a0001c0001t0028g0192
a0001c0001t0044g0161
others(1): Show 
a0001c0001t0010g0249
a0001c0001t0028g0192
a0001c0001t0044g0161
a0001c0004t0017g0224
 4 HG02486.hp2
HG02647.hp2
HG02922.hp1
others(1): Show 
HG02486.hp2
HG02647.hp2
HG02922.hp1
HG03139.hp1
 intron_variant MODIFIER c.1892+26232A>G
c.1892+26232A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36870628
chr21:36870853 G
G
 C
C
 1 a0005c0011t0033g0139
a0005c0011t0033g0139
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.1892+26007C>G
c.1892+26007C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36870853
chr21:36870910 C
C
 G
G
 77 a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
others(74): Show 
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0113
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0022g0187
a0001c0001t0028g0167
a0001c0001t0030g0257
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0039g0126
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0071g0089
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0111g0137
a0001c0004t0042g0209
a0001c0004t0068g0088
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0006c0016t0001g0116
a0007c0014t0070g0131
a0009c0009t0012g0196
 77 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(74): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00735.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02300.hp2
HG02486.hp1
HG02523.hp2
HG02615.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG06807.hp2
NA18612.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18959.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18975.hp2
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19030.hp2
NA19068.hp2
NA19074.hp2
NA19240.hp2
NA20805.hp2
 intron_variant MODIFIER c.1892+25950G>C
c.1892+25950G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36870910
chr21:36870930 C
C
 A
A
 1 a0001c0001t0004g0007
a0001c0001t0004g0007
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.1892+25930G>T
c.1892+25930G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36870930
chr21:36871012 C
C
 T
T
 3 a0001c0001t0018g0189
a0001c0004t0042g0209
a0002c0002t0018g0153
a0001c0001t0018g0189
a0001c0004t0042g0209
a0002c0002t0018g0153
 3 HG00735.hp1
HG01952.hp2
NA18522.hp2
HG00735.hp1
HG01952.hp2
NA18522.hp2
 intron_variant MODIFIER c.1892+25848G>A
c.1892+25848G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36871012
chr21:36871099 C
C
 T
T
 76 a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
others(73): Show 
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0113
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0022g0187
a0001c0001t0028g0167
a0001c0001t0030g0257
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0039g0126
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0071g0089
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0050g0206
a0001c0003t0111g0137
a0001c0004t0042g0209
a0001c0004t0068g0088
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0006c0016t0001g0116
a0007c0014t0070g0131
a0009c0009t0012g0196
 76 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(73): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00735.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02300.hp2
HG02486.hp1
HG02523.hp2
HG02615.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG06807.hp2
NA18612.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18959.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18975.hp2
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19030.hp2
NA19068.hp2
NA19074.hp2
NA19240.hp2
NA20805.hp2
 intron_variant MODIFIER c.1892+25761G>A
c.1892+25761G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36871099
chr21:36871356 C
C
 G
G
 158 a0001c0001t0001g0010
a0001c0001t0001g0077
a0001c0001t0001g0120
others(155): Show 
a0001c0001t0001g0010
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0012g0234
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0030g0257
a0001c0001t0031g0245
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 158 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(155): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00639.hp1
HG00735.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02080.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
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.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19074.hp2
NA19084.hp1
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+25504G>C
c.1892+25504G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36871356
chr21:36871419 A
A
 G
G
 77 a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
others(74): Show 
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0113
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0022g0187
a0001c0001t0028g0167
a0001c0001t0030g0257
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0039g0126
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0071g0089
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0111g0137
a0001c0004t0042g0209
a0001c0004t0068g0088
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0006c0016t0001g0116
a0007c0014t0070g0131
a0009c0009t0012g0196
 77 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(74): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00735.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02300.hp2
HG02486.hp1
HG02523.hp2
HG02615.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG06807.hp2
NA18612.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18959.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18975.hp2
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19030.hp2
NA19068.hp2
NA19074.hp2
NA19240.hp2
NA20805.hp2
 intron_variant MODIFIER c.1892+25441T>C
c.1892+25441T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36871419
chr21:36871780 C
C
 A
A
 8 a0001c0001t0012g0234
a0001c0001t0018g0189
a0001c0001t0024g0191
others(5): Show 
a0001c0001t0012g0234
a0001c0001t0018g0189
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0065g0252
a0001c0001t0106g0253
a0001c0004t0017g0219
a0001c0004t0017g0220
 8 HG01952.hp2
HG02622.hp2
HG02896.hp1
others(5): Show 
HG01952.hp2
HG02622.hp2
HG02896.hp1
HG02897.hp2
HG03041.hp2
HG03098.hp2
HG03225.hp2
HG04204.hp1
 intron_variant MODIFIER c.1892+25080G>T
c.1892+25080G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36871780
chr21:36871869 G
G
 T
T
 21 a0001c0001t0002g0193
a0001c0001t0005g0052
a0001c0001t0010g0213
others(18): Show 
a0001c0001t0002g0193
a0001c0001t0005g0052
a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0019g0061
a0001c0001t0029g0051
a0001c0001t0038g0054
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0004t0067g0067
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
 21 HG01109.hp1
HG01884.hp2
HG01891.hp1
others(18): Show 
HG01109.hp1
HG01884.hp2
HG01891.hp1
HG02145.hp1
HG02280.hp1
HG02572.hp1
HG02723.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG03195.hp1
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03540.hp2
HG03579.hp1
NA19043.hp1
NA19043.hp2
NA20129.hp1
 intron_variant MODIFIER c.1892+24991C>A
c.1892+24991C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36871869
chr21:36871880 A
A
 G
G
 158 a0001c0001t0001g0010
a0001c0001t0001g0077
a0001c0001t0001g0120
others(155): Show 
a0001c0001t0001g0010
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0012g0234
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0030g0257
a0001c0001t0031g0245
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 158 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(155): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00639.hp1
HG00735.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02080.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
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.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19074.hp2
NA19084.hp1
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+24980T>C
c.1892+24980T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36871880
chr21:36872148 C
C
 T
T
 1 a0001c0001t0004g0032
a0001c0001t0004g0032
 1 HG01515.hp1
HG01515.hp1
 intron_variant MODIFIER c.1892+24712G>A
c.1892+24712G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36872148
chr21:36872165 G
G
 A
A
 62 a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
others(59): Show 
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0004g0138
a0001c0001t0005g0113
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0028g0167
a0001c0001t0030g0257
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0039g0126
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0071g0089
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0109g0119
a0001c0003t0111g0137
a0001c0013t0022g0177
a0006c0016t0001g0116
a0007c0014t0070g0131
a0009c0009t0012g0196
 62 HG00280.hp2
HG00323.hp2
HG00438.hp2
others(59): Show 
HG00280.hp2
HG00323.hp2
HG00438.hp2
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01346.hp1
HG01496.hp1
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02300.hp2
HG02523.hp2
HG02615.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp2
HG03540.hp1
HG03669.hp2
HG03704.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG06807.hp2
NA18612.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18959.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18975.hp2
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19030.hp2
NA19068.hp2
NA19074.hp2
NA19240.hp2
 intron_variant MODIFIER c.1892+24695C>T
c.1892+24695C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36872165
chr21:36872249 C
C
 T
T
 1 a0001c0004t0004g0046
a0001c0004t0004g0046
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.1892+24611G>A
c.1892+24611G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36872249
chr21:36872273 A
A
 T
T
 6 a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0041g0148
others(3): Show 
a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0041g0148
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0062g0145
 6 HG00639.hp1
HG02280.hp2
HG03139.hp2
others(3): Show 
HG00639.hp1
HG02280.hp2
HG03139.hp2
HG03209.hp2
HG03579.hp2
NA18522.hp1
 intron_variant MODIFIER c.1892+24587T>A
c.1892+24587T>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36872273
chr21:36872278 C
C
 T
T
 1 a0001c0001t0028g0192
a0001c0001t0028g0192
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.1892+24582G>A
c.1892+24582G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36872278
chr21:36872323 G
G
 A
A
 1 a0001c0001t0013g0223
a0001c0001t0013g0223
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.1892+24537C>T
c.1892+24537C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36872323
chr21:36872390 C
C
 CA
CA
 37 a0001c0001t0002g0193
a0001c0001t0003g0244
a0001c0001t0005g0052
others(34): Show 
a0001c0001t0002g0193
a0001c0001t0003g0244
a0001c0001t0005g0052
a0001c0001t0005g0113
a0001c0001t0006g0096
a0001c0001t0006g0125
a0001c0001t0006g0256
a0001c0001t0007g0194
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0013g0223
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0019g0061
a0001c0001t0029g0051
a0001c0001t0030g0257
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0082g0112
a0001c0001t0090g0005
a0001c0001t0099g0124
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0004t0067g0067
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
a0001c0018t0004g0060
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0007c0014t0070g0131
 37 HG00741.hp1
HG01106.hp2
HG01109.hp1
others(34): Show 
HG00741.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01884.hp2
HG01891.hp1
HG01981.hp1
HG02109.hp2
HG02145.hp1
HG02280.hp1
HG02572.hp1
HG02615.hp2
HG02622.hp1
HG02723.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG03098.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03540.hp2
HG03579.hp1
HG03831.hp2
HG04204.hp2
NA18952.hp2
NA18967.hp1
NA18970.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA20129.hp1
 intron_variant MODIFIER c.1892+24469dupT
c.1892+24469dupT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36872390
chr21:36872515 G
G
 A
A
 2 a0001c0001t0003g0226
a0008c0012t0035g0069
a0001c0001t0003g0226
a0008c0012t0035g0069
 2 NA18940.hp1
NA18984.hp1
NA18940.hp1
NA18984.hp1
 intron_variant MODIFIER c.1892+24345C>T
c.1892+24345C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36872515
chr21:36872519 A
A
 C
C
 155 a0001c0001t0001g0010
a0001c0001t0001g0077
a0001c0001t0001g0120
others(152): Show 
a0001c0001t0001g0010
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0012g0234
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0030g0257
a0001c0001t0031g0245
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 155 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(152): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00639.hp1
HG00735.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02080.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
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.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19074.hp2
NA19084.hp1
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+24341T>G
c.1892+24341T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36872519
chr21:36872658 C
C
 T
T
 7 a0001c0001t0012g0234
a0001c0001t0024g0191
a0001c0001t0024g0211
others(4): Show 
a0001c0001t0012g0234
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0065g0252
a0001c0001t0106g0253
a0001c0004t0017g0219
a0001c0004t0017g0220
 7 HG02622.hp2
HG02896.hp1
HG02897.hp2
others(4): Show 
HG02622.hp2
HG02896.hp1
HG02897.hp2
HG03041.hp2
HG03098.hp2
HG03225.hp2
HG04204.hp1
 intron_variant MODIFIER c.1892+24202G>A
c.1892+24202G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36872658
chr21:36872676 T
T
 C
C
 1 a0001c0001t0074g0087
a0001c0001t0074g0087
 1 HG00735.hp2
HG00735.hp2
 intron_variant MODIFIER c.1892+24184A>G
c.1892+24184A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36872676
chr21:36872872 G
G
 A
A
 78 a0001c0001t0001g0010
a0001c0001t0002g0193
a0001c0001t0002g0232
others(75): Show 
a0001c0001t0001g0010
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0010g0213
a0001c0001t0010g0249
a0001c0001t0012g0234
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0031g0245
a0001c0001t0038g0054
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0073g0246
a0001c0001t0090g0005
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0067g0067
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0008c0012t0035g0069
 78 HG00639.hp1
HG01106.hp2
HG01109.hp1
others(75): Show 
HG00639.hp1
HG01106.hp2
HG01109.hp1
HG01175.hp2
HG01884.hp2
HG01891.hp1
HG01952.hp2
HG02080.hp1
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03710.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18959.hp2
NA18961.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19084.hp1
NA19088.hp1
NA19240.hp1
NA20129.hp1
 intron_variant MODIFIER c.1892+23988C>T
c.1892+23988C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36872872
chr21:36872903 T
T
 A
A
 76 a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
others(73): Show 
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0113
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0022g0187
a0001c0001t0028g0167
a0001c0001t0030g0257
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0039g0126
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0071g0089
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0111g0137
a0001c0004t0068g0088
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0006c0016t0001g0116
a0007c0014t0070g0131
a0009c0009t0012g0196
 76 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(73): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02300.hp2
HG02486.hp1
HG02523.hp2
HG02615.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG06807.hp2
NA18612.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18959.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18975.hp2
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19030.hp2
NA19068.hp2
NA19074.hp2
NA19240.hp2
NA20805.hp2
 intron_variant MODIFIER c.1892+23957A>T
c.1892+23957A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36872903
chr21:36872919 C
C
 T
T
 3 a0001c0001t0001g0068
a0001c0001t0006g0019
a0001c0001t0094g0031
a0001c0001t0001g0068
a0001c0001t0006g0019
a0001c0001t0094g0031
 3 HG00438.hp1
NA18941.hp1
NA19009.hp1
HG00438.hp1
NA18941.hp1
NA19009.hp1
 intron_variant MODIFIER c.1892+23941G>A
c.1892+23941G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36872919
chr21:36873100 T
T
 C
C
 29 a0001c0001t0001g0010
a0001c0001t0002g0232
a0001c0001t0002g0237
others(26): Show 
a0001c0001t0001g0010
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0019g0101
a0001c0001t0049g0233
a0001c0001t0057g0225
a0001c0001t0066g0059
a0001c0001t0090g0005
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0015t0052g0239
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0015g0142
a0002c0002t0027g0157
a0002c0002t0048g0144
a0003c0005t0092g0134
a0008c0012t0035g0069
 29 HG01106.hp2
HG01175.hp2
HG02080.hp1
others(26): Show 
HG01106.hp2
HG01175.hp2
HG02080.hp1
HG02129.hp1
HG02135.hp2
HG02602.hp1
HG02622.hp1
HG02723.hp1
HG03516.hp2
HG03710.hp2
HG04115.hp2
HG04204.hp2
HG04228.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18959.hp2
NA18961.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19030.hp1
NA19084.hp1
NA19088.hp1
 intron_variant MODIFIER c.1892+23760A>G
c.1892+23760A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36873100
chr21:36873129 G
G
 T
T
 159 a0001c0001t0001g0010
a0001c0001t0001g0077
a0001c0001t0001g0120
others(156): Show 
a0001c0001t0001g0010
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0257
a0001c0001t0031g0245
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0093g0133
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 159 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(156): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00639.hp1
HG00735.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02080.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
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.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19074.hp2
NA19084.hp1
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+23731C>A
c.1892+23731C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36873129
chr21:36873389 C
C
 T
T
 251 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(248): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 251 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(248): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1892+23471G>A
c.1892+23471G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36873389
chr21:36873484 T
T
 A
A
 2 a0002c0002t0040g0242
a0002c0002t0064g0243
a0002c0002t0040g0242
a0002c0002t0064g0243
 2 HG02559.hp2
HG03041.hp1
HG02559.hp2
HG03041.hp1
 intron_variant MODIFIER c.1892+23376A>T
c.1892+23376A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36873484
chr21:36873505 G
G
 A
A
 1 a0002c0002t0048g0144
a0002c0002t0048g0144
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.1892+23355C>T
c.1892+23355C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36873505
chr21:36873518 T
T
 C
C
 76 a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
others(73): Show 
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0113
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0022g0187
a0001c0001t0028g0167
a0001c0001t0030g0257
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0039g0126
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0071g0089
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0111g0137
a0001c0004t0068g0088
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0006c0016t0001g0116
a0007c0014t0070g0131
a0009c0009t0012g0196
 76 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(73): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02300.hp2
HG02486.hp1
HG02523.hp2
HG02615.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG06807.hp2
NA18612.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18959.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18975.hp2
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19030.hp2
NA19068.hp2
NA19074.hp2
NA19240.hp2
NA20805.hp2
 intron_variant MODIFIER c.1892+23342A>G
c.1892+23342A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36873518
chr21:36873529 C
C
 T
T
 1 a0001c0001t0001g0072
a0001c0001t0001g0072
 1 HG01123.hp2
HG01123.hp2
 intron_variant MODIFIER c.1892+23331G>A
c.1892+23331G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36873529
chr21:36873604 T
T
 C
C
 1 a0001c0001t0031g0057
a0001c0001t0031g0057
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.1892+23256A>G
c.1892+23256A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36873604
chr21:36873711 G
G
 A
A
 1 a0001c0001t0051g0168
a0001c0001t0051g0168
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.1892+23149C>T
c.1892+23149C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36873711
chr21:36873801 A
A
 G
G
 1 a0001c0001t0016g0098
a0001c0001t0016g0098
 1 HG02523.hp2
HG02523.hp2
 intron_variant MODIFIER c.1892+23059T>C
c.1892+23059T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36873801
chr21:36873956 C
C
 A
A
 251 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(248): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 251 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(248): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1892+22904G>T
c.1892+22904G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36873956
chr21:36873978 T
T
 C
C
 155 a0001c0001t0001g0010
a0001c0001t0001g0077
a0001c0001t0001g0120
others(152): Show 
a0001c0001t0001g0010
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0012g0234
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0030g0257
a0001c0001t0031g0245
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 155 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(152): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00639.hp1
HG00735.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02080.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
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.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19074.hp2
NA19084.hp1
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+22882A>G
c.1892+22882A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36873978
chr21:36874191 C
C
 T
T
 1 a0001c0001t0003g0226
a0001c0001t0003g0226
 1 NA18984.hp1
NA18984.hp1
 intron_variant MODIFIER c.1892+22669G>A
c.1892+22669G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36874191
chr21:36874408 AT
AT
 A
A
 149 a0001c0001t0001g0010
a0001c0001t0001g0077
a0001c0001t0001g0120
others(146): Show 
a0001c0001t0001g0010
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0045
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0257
a0001c0001t0031g0245
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0093g0133
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 149 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(146): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00639.hp1
HG00735.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02080.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18947.hp2
NA18950.hp2
NA18959.hp1
NA18959.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19074.hp2
NA19084.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+22451delA
c.1892+22451delA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36874408
chr21:36874409 T
T
 A
A
 11 a0001c0001t0002g0171
a0001c0001t0004g0138
a0001c0001t0088g0105
others(8): Show 
a0001c0001t0002g0171
a0001c0001t0004g0138
a0001c0001t0088g0105
a0001c0001t0109g0119
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0015g0142
a0002c0002t0027g0157
a0003c0005t0092g0134
 11 HG01175.hp1
HG01175.hp2
HG02135.hp2
others(8): Show 
HG01175.hp1
HG01175.hp2
HG02135.hp2
HG02602.hp1
HG02723.hp1
HG02965.hp2
HG03831.hp1
NA18612.hp2
NA18951.hp1
NA18961.hp1
NA19088.hp1
 intron_variant MODIFIER c.1892+22451A>T
c.1892+22451A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36874409
chr21:36874414 T
T
 A
A
 51 a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
others(48): Show 
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0179
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0005g0113
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0028g0167
a0001c0001t0030g0257
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0039g0126
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0071g0089
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0003t0111g0137
a0001c0013t0022g0177
a0006c0016t0001g0116
a0007c0014t0070g0131
a0009c0009t0012g0196
 51 HG00280.hp2
HG00323.hp2
HG00438.hp2
others(48): Show 
HG00280.hp2
HG00323.hp2
HG00438.hp2
HG00741.hp1
HG01070.hp1
HG01071.hp1
HG01346.hp1
HG01496.hp1
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02523.hp2
HG02615.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03540.hp1
HG03704.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG06807.hp2
NA18612.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18959.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18975.hp2
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19030.hp2
NA19068.hp2
NA19074.hp2
NA19240.hp2
 intron_variant MODIFIER c.1892+22446A>T
c.1892+22446A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36874414
chr21:36874416 A
A
 T
T
 1 a0001c0001t0061g0163
a0001c0001t0061g0163
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.1892+22444T>A
c.1892+22444T>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36874416
chr21:36874656 C
C
 T
T
 1 a0001c0001t0019g0247
a0001c0001t0019g0247
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.1892+22204G>A
c.1892+22204G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36874656
chr21:36874747 A
A
 G
G
 77 a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
others(74): Show 
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0113
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0022g0187
a0001c0001t0028g0167
a0001c0001t0030g0257
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0039g0126
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0071g0089
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0111g0137
a0001c0004t0042g0209
a0001c0004t0068g0088
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0006c0016t0001g0116
a0007c0014t0070g0131
a0009c0009t0012g0196
 77 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(74): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00735.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02300.hp2
HG02486.hp1
HG02523.hp2
HG02615.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG06807.hp2
NA18612.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18959.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18975.hp2
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19030.hp2
NA19068.hp2
NA19074.hp2
NA19240.hp2
NA20805.hp2
 intron_variant MODIFIER c.1892+22113T>C
c.1892+22113T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36874747
chr21:36874799 C
C
 A
A
 1 a0001c0004t0068g0088
a0001c0004t0068g0088
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.1892+22061G>T
c.1892+22061G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36874799
chr21:36874866 C
C
 A
A
 62 a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
others(59): Show 
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0004g0138
a0001c0001t0005g0113
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0028g0167
a0001c0001t0030g0257
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0039g0126
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0071g0089
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0109g0119
a0001c0003t0111g0137
a0001c0013t0022g0177
a0006c0016t0001g0116
a0007c0014t0070g0131
a0009c0009t0012g0196
 62 HG00280.hp2
HG00323.hp2
HG00438.hp2
others(59): Show 
HG00280.hp2
HG00323.hp2
HG00438.hp2
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01346.hp1
HG01496.hp1
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02300.hp2
HG02523.hp2
HG02615.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp2
HG03540.hp1
HG03669.hp2
HG03704.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG06807.hp2
NA18612.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18959.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18975.hp2
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19030.hp2
NA19068.hp2
NA19074.hp2
NA19240.hp2
 intron_variant MODIFIER c.1892+21994G>T
c.1892+21994G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36874866
chr21:36875101 A
A
 C
C
 29 a0001c0001t0001g0010
a0001c0001t0002g0232
a0001c0001t0002g0237
others(26): Show 
a0001c0001t0001g0010
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0019g0101
a0001c0001t0049g0233
a0001c0001t0057g0225
a0001c0001t0066g0059
a0001c0001t0090g0005
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0015t0052g0239
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0015g0142
a0002c0002t0027g0157
a0002c0002t0048g0144
a0003c0005t0092g0134
a0008c0012t0035g0069
 29 HG01106.hp2
HG01175.hp2
HG02080.hp1
others(26): Show 
HG01106.hp2
HG01175.hp2
HG02080.hp1
HG02129.hp1
HG02135.hp2
HG02602.hp1
HG02622.hp1
HG02723.hp1
HG03516.hp2
HG03710.hp2
HG04115.hp2
HG04204.hp2
HG04228.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18959.hp2
NA18961.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19030.hp1
NA19084.hp1
NA19088.hp1
 intron_variant MODIFIER c.1892+21759T>G
c.1892+21759T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36875101
chr21:36875154 G
G
 A
A
 2 a0001c0001t0006g0019
a0001c0001t0094g0031
a0001c0001t0006g0019
a0001c0001t0094g0031
 2 NA18941.hp1
NA19009.hp1
NA18941.hp1
NA19009.hp1
 intron_variant MODIFIER c.1892+21706C>T
c.1892+21706C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36875154
chr21:36875263 C
C
 A
A
 1 a0002c0002t0002g0143
a0002c0002t0002g0143
 1 NA19088.hp1
NA19088.hp1
 intron_variant MODIFIER c.1892+21597G>T
c.1892+21597G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36875263
chr21:36875277 T
T
 C
C
 1 a0001c0001t0031g0057
a0001c0001t0031g0057
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.1892+21583A>G
c.1892+21583A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36875277
chr21:36875280 G
G
 A
A
 155 a0001c0001t0001g0010
a0001c0001t0001g0077
a0001c0001t0001g0120
others(152): Show 
a0001c0001t0001g0010
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0012g0234
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0030g0257
a0001c0001t0031g0245
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 155 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(152): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00639.hp1
HG00735.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02080.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
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.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19074.hp2
NA19084.hp1
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+21580C>T
c.1892+21580C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36875280
chr21:36875529 A
A
 G
G
 160 a0001c0001t0001g0010
a0001c0001t0001g0077
a0001c0001t0001g0120
others(157): Show 
a0001c0001t0001g0010
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0257
a0001c0001t0031g0245
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0093g0133
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 160 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(157): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00639.hp1
HG00735.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02080.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
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.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19074.hp2
NA19084.hp1
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+21331T>C
c.1892+21331T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36875529
chr21:36875727 T
T
 C
C
 1 a0001c0001t0012g0234
a0001c0001t0012g0234
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.1892+21133A>G
c.1892+21133A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36875727
chr21:36875899 C
C
 A
A
 77 a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
others(74): Show 
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0113
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0022g0187
a0001c0001t0028g0167
a0001c0001t0030g0257
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0039g0126
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0071g0089
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0111g0137
a0001c0004t0042g0209
a0001c0004t0068g0088
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0006c0016t0001g0116
a0007c0014t0070g0131
a0009c0009t0012g0196
 77 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(74): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00735.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02300.hp2
HG02486.hp1
HG02523.hp2
HG02615.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG06807.hp2
NA18612.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18959.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18975.hp2
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19030.hp2
NA19068.hp2
NA19074.hp2
NA19240.hp2
NA20805.hp2
 intron_variant MODIFIER c.1892+20961G>T
c.1892+20961G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36875899
chr21:36875962 G
G
 A
A
 1 a0001c0001t0110g0023
a0001c0001t0110g0023
 1 NA18968.hp1
NA18968.hp1
 intron_variant MODIFIER c.1892+20898C>T
c.1892+20898C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36875962
chr21:36876147 G
G
 T
T
 3 a0001c0001t0006g0109
a0001c0001t0032g0111
a0001c0001t0085g0110
a0001c0001t0006g0109
a0001c0001t0032g0111
a0001c0001t0085g0110
 3 HG01975.hp1
HG02145.hp2
HG06807.hp2
HG01975.hp1
HG02145.hp2
HG06807.hp2
 intron_variant MODIFIER c.1892+20713C>A
c.1892+20713C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36876147
chr21:36876166 G
G
 A
A
 42 a0001c0001t0001g0010
a0001c0001t0002g0232
a0001c0001t0002g0237
others(39): Show 
a0001c0001t0001g0010
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0010g0249
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0028g0192
a0001c0001t0031g0245
a0001c0001t0044g0161
a0001c0001t0049g0233
a0001c0001t0057g0225
a0001c0001t0066g0059
a0001c0001t0073g0246
a0001c0001t0090g0005
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0017g0224
a0001c0004t0072g0248
a0001c0015t0052g0239
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0043g0152
a0002c0002t0048g0144
a0002c0002t0064g0243
a0003c0005t0092g0134
a0008c0012t0035g0069
 42 HG01106.hp2
HG01175.hp2
HG02080.hp1
others(39): Show 
HG01106.hp2
HG01175.hp2
HG02080.hp1
HG02129.hp1
HG02135.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02622.hp1
HG02647.hp2
HG02723.hp1
HG02922.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03516.hp2
HG03710.hp2
HG04115.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18959.hp2
NA18961.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19030.hp1
NA19084.hp1
NA19088.hp1
NA19240.hp1
 intron_variant MODIFIER c.1892+20694C>T
c.1892+20694C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36876166
chr21:36876197 G
G
 A
A
 1 a0003c0005t0092g0134
a0003c0005t0092g0134
 1 HG01175.hp2
HG01175.hp2
 intron_variant MODIFIER c.1892+20663C>T
c.1892+20663C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36876197
chr21:36876213 G
G
 T
T
 2 a0001c0001t0008g0055
a0001c0001t0091g0042
a0001c0001t0008g0055
a0001c0001t0091g0042
 2 HG02602.hp2
HG02683.hp1
HG02602.hp2
HG02683.hp1
 intron_variant MODIFIER c.1892+20647C>A
c.1892+20647C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36876213
chr21:36876241 G
G
 A
A
 1 a0001c0001t0107g0050
a0001c0001t0107g0050
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.1892+20619C>T
c.1892+20619C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36876241
chr21:36876244 C
C
 T
T
 1 a0001c0001t0037g0254
a0001c0001t0037g0254
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.1892+20616G>A
c.1892+20616G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36876244
chr21:36876319 T
T
 C
C
 29 a0001c0001t0001g0010
a0001c0001t0002g0232
a0001c0001t0002g0237
others(26): Show 
a0001c0001t0001g0010
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0019g0101
a0001c0001t0049g0233
a0001c0001t0057g0225
a0001c0001t0066g0059
a0001c0001t0090g0005
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0015t0052g0239
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0015g0142
a0002c0002t0027g0157
a0002c0002t0048g0144
a0003c0005t0092g0134
a0008c0012t0035g0069
 29 HG01106.hp2
HG01175.hp2
HG02080.hp1
others(26): Show 
HG01106.hp2
HG01175.hp2
HG02080.hp1
HG02129.hp1
HG02135.hp2
HG02602.hp1
HG02622.hp1
HG02723.hp1
HG03516.hp2
HG03710.hp2
HG04115.hp2
HG04204.hp2
HG04228.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18959.hp2
NA18961.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19030.hp1
NA19084.hp1
NA19088.hp1
 intron_variant MODIFIER c.1892+20541A>G
c.1892+20541A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36876319
chr21:36876366 C
C
 T
T
 78 a0001c0001t0001g0010
a0001c0001t0002g0193
a0001c0001t0002g0232
others(75): Show 
a0001c0001t0001g0010
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0010g0213
a0001c0001t0010g0249
a0001c0001t0012g0234
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0031g0245
a0001c0001t0038g0054
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0073g0246
a0001c0001t0090g0005
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0067g0067
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0008c0012t0035g0069
 78 HG00639.hp1
HG01106.hp2
HG01109.hp1
others(75): Show 
HG00639.hp1
HG01106.hp2
HG01109.hp1
HG01175.hp2
HG01884.hp2
HG01891.hp1
HG01952.hp2
HG02080.hp1
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03710.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18959.hp2
NA18961.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19084.hp1
NA19088.hp1
NA19240.hp1
NA20129.hp1
 intron_variant MODIFIER c.1892+20494G>A
c.1892+20494G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36876366
chr21:36876382 A
A
 G
G
 65 a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
others(62): Show 
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0003g0175
a0001c0001t0003g0244
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0058
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0094
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0011g0022
a0001c0001t0014g0241
a0001c0001t0016g0047
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0075g0049
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0081g0016
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0091g0042
a0001c0001t0094g0031
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0100g0073
a0001c0001t0102g0063
a0001c0001t0110g0023
a0001c0003t0007g0210
a0001c0004t0004g0046
a0001c0008t0008g0001
a0001c0010t0011g0020
a0004c0019t0112g0258
 65 HG00280.hp1
HG00438.hp1
HG00639.hp2
others(62): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp2
HG00673.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01099.hp1
HG01123.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp1
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01515.hp1
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02300.hp1
HG02523.hp1
HG02572.hp2
HG02602.hp2
HG02683.hp1
HG02717.hp1
HG02818.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp1
HG03492.hp1
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04228.hp1
NA18940.hp2
NA18941.hp1
NA18945.hp1
NA18948.hp1
NA18950.hp1
NA18951.hp2
NA18952.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1892+20478T>C
c.1892+20478T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36876382
chr21:36876432 C
C
 T
T
 5 a0001c0001t0019g0247
a0001c0001t0031g0245
a0001c0001t0073g0246
others(2): Show 
a0001c0001t0019g0247
a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0004t0072g0248
a0002c0002t0025g0149
 5 HG02559.hp1
HG03471.hp2
HG03516.hp1
others(2): Show 
HG02559.hp1
HG03471.hp2
HG03516.hp1
HG06807.hp1
NA19240.hp1
 intron_variant MODIFIER c.1892+20428G>A
c.1892+20428G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36876432
chr21:36876478 T
T
 C
C
 1 a0005c0011t0033g0139
a0005c0011t0033g0139
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.1892+20382A>G
c.1892+20382A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36876478
chr21:36876749 T
T
 C
C
 1 a0001c0001t0004g0045
a0001c0001t0004g0045
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.1892+20111A>G
c.1892+20111A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36876749
chr21:36876847 T
T
 C
C
 1 a0001c0001t0038g0054
a0001c0001t0038g0054
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.1892+20013A>G
c.1892+20013A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36876847
chr21:36877052 G
G
 A
A
 1 a0001c0001t0084g0075
a0001c0001t0084g0075
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1892+19808C>T
c.1892+19808C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36877052
chr21:36877281 G
G
 C
C
 4 a0001c0001t0005g0135
a0001c0001t0029g0136
a0001c0001t0069g0255
others(1): Show 
a0001c0001t0005g0135
a0001c0001t0029g0136
a0001c0001t0069g0255
a0001c0001t0093g0133
 4 HG01099.hp2
HG02615.hp1
HG02809.hp1
others(1): Show 
HG01099.hp2
HG02615.hp1
HG02809.hp1
HG02809.hp2
 intron_variant MODIFIER c.1892+19579C>G
c.1892+19579C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36877281
chr21:36877969 C
C
 G
G
 3 a0001c0001t0018g0176
a0001c0001t0051g0168
a0001c0013t0022g0177
a0001c0001t0018g0176
a0001c0001t0051g0168
a0001c0013t0022g0177
 3 HG02886.hp2
HG02896.hp2
HG03130.hp1
HG02886.hp2
HG02896.hp2
HG03130.hp1
 intron_variant MODIFIER c.1892+18891G>C
c.1892+18891G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36877969
chr21:36878256 C
C
 T
T
 1 a0001c0001t0059g0180
a0001c0001t0059g0180
 1 HG01070.hp1
HG01070.hp1
 intron_variant MODIFIER c.1892+18604G>A
c.1892+18604G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36878256
chr21:36878320 A
A
 G
G
 257 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(254): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 257 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(254): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1892+18540T>C
c.1892+18540T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36878320
chr21:36878339 T
T
 A
A
 257 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(254): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 257 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(254): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1892+18521A>T
c.1892+18521A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36878339
chr21:36878346 G
G
 C
C
 257 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(254): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 257 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(254): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1892+18514C>G
c.1892+18514C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36878346
chr21:36878353 T
T
 C
C
 1 a0002c0002t0048g0144
a0002c0002t0048g0144
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.1892+18507A>G
c.1892+18507A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36878353
chr21:36878621 G
G
 C
C
 11 a0001c0001t0002g0193
a0001c0001t0005g0052
a0001c0001t0019g0061
others(8): Show 
a0001c0001t0002g0193
a0001c0001t0005g0052
a0001c0001t0019g0061
a0001c0001t0029g0051
a0001c0001t0038g0054
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0004t0067g0067
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
 11 HG01109.hp1
HG01884.hp2
HG01891.hp1
others(8): Show 
HG01109.hp1
HG01884.hp2
HG01891.hp1
HG02145.hp1
HG02572.hp1
HG02818.hp2
HG02922.hp2
HG03195.hp1
HG03453.hp2
NA19043.hp1
NA19043.hp2
 intron_variant MODIFIER c.1892+18239C>G
c.1892+18239C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36878621
chr21:36878659 G
G
 A
A
 1 a0003c0005t0092g0134
a0003c0005t0092g0134
 1 HG01175.hp2
HG01175.hp2
 intron_variant MODIFIER c.1892+18201C>T
c.1892+18201C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36878659
chr21:36878684 C
C
 T
T
 1 a0001c0001t0004g0138
a0001c0001t0004g0138
 1 HG01175.hp1
HG01175.hp1
 intron_variant MODIFIER c.1892+18176G>A
c.1892+18176G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36878684
chr21:36878717 T
T
 A
A
 144 a0001c0001t0001g0010
a0001c0001t0001g0077
a0001c0001t0001g0120
others(141): Show 
a0001c0001t0001g0010
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0012g0234
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0030g0257
a0001c0001t0031g0245
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 144 HG00280.hp2
HG00323.hp2
HG00438.hp2
others(141): Show 
HG00280.hp2
HG00323.hp2
HG00438.hp2
HG00639.hp1
HG00735.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp2
HG01109.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02080.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
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.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19074.hp2
NA19084.hp1
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.1892+18143A>T
c.1892+18143A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36878717
chr21:36878767 T
T
 A
A
 1 a0001c0001t0013g0223
a0001c0001t0013g0223
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.1892+18093A>T
c.1892+18093A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36878767
chr21:36878802 T
T
 C
C
 11 a0001c0001t0002g0174
a0001c0001t0007g0194
a0001c0001t0009g0201
others(8): Show 
a0001c0001t0002g0174
a0001c0001t0007g0194
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0007t0007g0200
a0001c0007t0012g0207
 11 HG00323.hp1
HG01106.hp1
HG01109.hp2
others(8): Show 
HG00323.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG02257.hp1
HG03669.hp1
HG03831.hp2
NA20805.hp2
 intron_variant MODIFIER c.1892+18058A>G
c.1892+18058A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36878802
chr21:36878953 C
C
 A
A
 69 a0001c0001t0001g0006
a0001c0001t0001g0011
a0001c0001t0001g0017
others(66): Show 
a0001c0001t0001g0006
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0003g0175
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0058
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0094
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0011g0022
a0001c0001t0014g0241
a0001c0001t0016g0047
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0075g0049
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0091g0042
a0001c0001t0094g0031
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0110g0023
a0001c0003t0007g0210
a0001c0004t0004g0046
a0001c0008t0008g0001
a0001c0010t0011g0020
a0004c0019t0112g0258
 69 HG00280.hp1
HG00438.hp1
HG00639.hp2
others(66): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp2
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01123.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01515.hp1
HG01516.hp1
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02300.hp1
HG02523.hp1
HG02572.hp2
HG02602.hp2
HG02683.hp1
HG02717.hp1
HG02818.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp1
HG03492.hp1
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04228.hp1
NA18940.hp2
NA18941.hp1
NA18945.hp1
NA18948.hp1
NA18950.hp1
NA18951.hp2
NA18952.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1892+17907G>T
c.1892+17907G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36878953
chr21:36878995 T
T
 TA
TA
 257 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(254): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 257 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(254): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1892+17864dupT
c.1892+17864dupT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36878995
chr21:36879017 T
T
 A
A
 257 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(254): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 257 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(254): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1892+17843A>T
c.1892+17843A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36879017
chr21:36879060 A
A
 AC
AC
 257 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(254): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 257 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(254): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1892+17799dupG
c.1892+17799dupG
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36879060
chr21:36879120 T
T
 TTG
TTG
 257 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(254): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 257 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(254): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1892+17739_1892+17
others(8): Show 
c.1892+17739_1892+17740insCA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36879120
chr21:36879123 A
A
 C
C
 257 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(254): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 257 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(254): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1892+17737T>G
c.1892+17737T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36879123
chr21:36879124 C
C
 A
A
 257 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(254): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 257 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(254): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1892+17736G>T
c.1892+17736G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36879124
chr21:36879135 G
G
 T
T
 257 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(254): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 257 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(254): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1892+17725C>A
c.1892+17725C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36879135
chr21:36879138 A
A
 AAT
AAT
 257 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(254): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 257 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(254): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1892+17721_1892+17
others(8): Show 
c.1892+17721_1892+17722insAT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36879138
chr21:36879139 T
T
 A
A
 257 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(254): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 257 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(254): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1892+17721A>T
c.1892+17721A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36879139
chr21:36879142 A
A
 T
T
 257 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(254): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 257 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(254): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1892+17718T>A
c.1892+17718T>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36879142
chr21:36879150 T
T
 A
A
 257 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(254): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 257 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(254): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1892+17710A>T
c.1892+17710A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36879150
chr21:36879156 T
T
 A
A
 257 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(254): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 257 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(254): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1892+17704A>T
c.1892+17704A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36879156
chr21:36879157 A
A
 T
T
 257 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(254): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 257 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(254): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1892+17703T>A
c.1892+17703T>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36879157
chr21:36879158 T
T
 A
A
 257 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(254): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 257 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(254): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1892+17702A>T
c.1892+17702A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36879158
chr21:36879193 AT
AT
 A
A
 257 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(254): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 257 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(254): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1892+17666delA
c.1892+17666delA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36879193
chr21:36879199 A
A
 G
G
 5 a0001c0001t0005g0135
a0001c0001t0013g0223
a0001c0001t0029g0136
others(2): Show 
a0001c0001t0005g0135
a0001c0001t0013g0223
a0001c0001t0029g0136
a0001c0001t0069g0255
a0001c0001t0093g0133
 5 HG01099.hp2
HG02615.hp1
HG02809.hp1
others(2): Show 
HG01099.hp2
HG02615.hp1
HG02809.hp1
HG02809.hp2
HG03098.hp1
 intron_variant MODIFIER c.1892+17661T>C
c.1892+17661T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36879199
chr21:36879258 A
A
 G
G
 144 a0001c0001t0001g0010
a0001c0001t0001g0077
a0001c0001t0001g0120
others(141): Show 
a0001c0001t0001g0010
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0012g0234
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0030g0257
a0001c0001t0031g0245
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 144 HG00280.hp2
HG00323.hp2
HG00438.hp2
others(141): Show 
HG00280.hp2
HG00323.hp2
HG00438.hp2
HG00639.hp1
HG00735.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp2
HG01109.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02080.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
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.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19074.hp2
NA19084.hp1
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.1892+17602T>C
c.1892+17602T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36879258
chr21:36879665 C
C
 T
T
 11 a0001c0001t0002g0174
a0001c0001t0007g0194
a0001c0001t0009g0201
others(8): Show 
a0001c0001t0002g0174
a0001c0001t0007g0194
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0007t0007g0200
a0001c0007t0012g0207
 11 HG00323.hp1
HG01106.hp1
HG01109.hp2
others(8): Show 
HG00323.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG02257.hp1
HG03669.hp1
HG03831.hp2
NA20805.hp2
 intron_variant MODIFIER c.1892+17195G>A
c.1892+17195G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36879665
chr21:36879915 G
G
 GA
GA
 8 a0001c0001t0001g0024
a0001c0001t0001g0036
a0001c0001t0001g0062
others(5): Show 
a0001c0001t0001g0024
a0001c0001t0001g0036
a0001c0001t0001g0062
a0001c0001t0001g0068
a0001c0001t0004g0014
a0001c0001t0006g0019
a0001c0001t0094g0031
a0001c0001t0096g0025
 8 HG00438.hp1
HG01081.hp1
HG01257.hp1
others(5): Show 
HG00438.hp1
HG01081.hp1
HG01257.hp1
HG01346.hp2
HG01975.hp2
HG01978.hp2
NA18941.hp1
NA19009.hp1
 intron_variant MODIFIER c.1892+16944dupT
c.1892+16944dupT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36879915
chr21:36879915 GA
GA
 G
G
 131 a0001c0001t0001g0010
a0001c0001t0001g0077
a0001c0001t0001g0120
others(128): Show 
a0001c0001t0001g0010
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0022g0187
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0030g0257
a0001c0001t0031g0245
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0036g0140
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0043g0152
a0002c0002t0048g0144
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 131 HG00280.hp2
HG00323.hp2
HG00438.hp2
others(128): Show 
HG00280.hp2
HG00323.hp2
HG00438.hp2
HG00735.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp2
HG01109.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01346.hp1
HG01496.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02080.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19074.hp2
NA19084.hp1
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.1892+16944delT
c.1892+16944delT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36879915
chr21:36879915 GAA
GAA
 G
G
 8 a0001c0001t0012g0234
a0001c0001t0018g0189
a0001c0001t0024g0191
others(5): Show 
a0001c0001t0012g0234
a0001c0001t0018g0189
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0065g0252
a0001c0001t0106g0253
a0001c0004t0017g0219
a0001c0004t0017g0220
 8 HG01952.hp2
HG02622.hp2
HG02896.hp1
others(5): Show 
HG01952.hp2
HG02622.hp2
HG02896.hp1
HG02897.hp2
HG03041.hp2
HG03098.hp2
HG03225.hp2
HG04204.hp1
 intron_variant MODIFIER c.1892+16943_1892+16
others(8): Show 
c.1892+16943_1892+16944delTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36879915
chr21:36880081 A
A
 G
G
 1 a0005c0011t0033g0139
a0005c0011t0033g0139
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.1892+16779T>C
c.1892+16779T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36880081
chr21:36880111 G
G
 A
A
 3 a0001c0001t0006g0132
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0006g0132
a0001c0001t0026g0250
a0001c0001t0026g0251
 3 HG01257.hp2
HG01258.hp1
HG02976.hp1
HG01257.hp2
HG01258.hp1
HG02976.hp1
 intron_variant MODIFIER c.1892+16749C>T
c.1892+16749C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36880111
chr21:36880121 A
A
 T
T
 6 a0001c0001t0001g0010
a0001c0001t0002g0232
a0001c0001t0002g0237
others(3): Show 
a0001c0001t0001g0010
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0005g0056
a0001c0001t0013g0231
a0001c0001t0049g0233
 6 HG02080.hp1
NA18942.hp1
NA18959.hp2
others(3): Show 
HG02080.hp1
NA18942.hp1
NA18959.hp2
NA18977.hp2
NA19009.hp2
NA19084.hp1
 intron_variant MODIFIER c.1892+16739T>A
c.1892+16739T>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36880121
chr21:36880522 A
A
 G
G
 11 a0001c0001t0002g0174
a0001c0001t0007g0194
a0001c0001t0009g0201
others(8): Show 
a0001c0001t0002g0174
a0001c0001t0007g0194
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0007t0007g0200
a0001c0007t0012g0207
 11 HG00323.hp1
HG01106.hp1
HG01109.hp2
others(8): Show 
HG00323.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG02257.hp1
HG03669.hp1
HG03831.hp2
NA20805.hp2
 intron_variant MODIFIER c.1892+16338T>C
c.1892+16338T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36880522
chr21:36880555 T
T
 C
C
 1 a0001c0001t0094g0031
a0001c0001t0094g0031
 1 NA18941.hp1
NA18941.hp1
 intron_variant MODIFIER c.1892+16305A>G
c.1892+16305A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36880555
chr21:36880780 G
G
 A
A
 62 a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
others(59): Show 
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0004g0138
a0001c0001t0005g0113
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0028g0167
a0001c0001t0030g0257
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0039g0126
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0071g0089
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0109g0119
a0001c0003t0111g0137
a0001c0013t0022g0177
a0006c0016t0001g0116
a0007c0014t0070g0131
a0009c0009t0012g0196
 62 HG00280.hp2
HG00323.hp2
HG00438.hp2
others(59): Show 
HG00280.hp2
HG00323.hp2
HG00438.hp2
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01346.hp1
HG01496.hp1
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02300.hp2
HG02523.hp2
HG02615.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp2
HG03540.hp1
HG03669.hp2
HG03704.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG06807.hp2
NA18612.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18959.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18975.hp2
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19030.hp2
NA19068.hp2
NA19074.hp2
NA19240.hp2
 intron_variant MODIFIER c.1892+16080C>T
c.1892+16080C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36880780
chr21:36880807 G
G
 T
T
 1 a0001c0001t0082g0112
a0001c0001t0082g0112
 1 HG01981.hp1
HG01981.hp1
 intron_variant MODIFIER c.1892+16053C>A
c.1892+16053C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36880807
chr21:36880826 C
C
 G
G
 1 a0001c0001t0029g0051
a0001c0001t0029g0051
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.1892+16034G>C
c.1892+16034G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36880826
chr21:36880914 G
G
 A
A
 42 a0001c0001t0001g0010
a0001c0001t0002g0232
a0001c0001t0002g0237
others(39): Show 
a0001c0001t0001g0010
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0010g0249
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0028g0192
a0001c0001t0031g0245
a0001c0001t0044g0161
a0001c0001t0049g0233
a0001c0001t0057g0225
a0001c0001t0066g0059
a0001c0001t0073g0246
a0001c0001t0090g0005
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0017g0224
a0001c0004t0072g0248
a0001c0015t0052g0239
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0043g0152
a0002c0002t0048g0144
a0002c0002t0064g0243
a0003c0005t0092g0134
a0008c0012t0035g0069
 42 HG01106.hp2
HG01175.hp2
HG02080.hp1
others(39): Show 
HG01106.hp2
HG01175.hp2
HG02080.hp1
HG02129.hp1
HG02135.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02622.hp1
HG02647.hp2
HG02723.hp1
HG02922.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03516.hp2
HG03710.hp2
HG04115.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18959.hp2
NA18961.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19030.hp1
NA19084.hp1
NA19088.hp1
NA19240.hp1
 intron_variant MODIFIER c.1892+15946C>T
c.1892+15946C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36880914
chr21:36880938 G
G
 A
A
 1 a0001c0001t0079g0026
a0001c0001t0079g0026
 1 NA18971.hp1
NA18971.hp1
 intron_variant MODIFIER c.1892+15922C>T
c.1892+15922C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36880938
chr21:36880952 G
G
 A
A
 1 a0001c0001t0001g0122
a0001c0001t0001g0122
 1 HG01346.hp1
HG01346.hp1
 intron_variant MODIFIER c.1892+15908C>T
c.1892+15908C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36880952
chr21:36880954 T
T
 G
G
 1 a0002c0002t0002g0155
a0002c0002t0002g0155
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.1892+15906A>C
c.1892+15906A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36880954
chr21:36880954 T
T
 TTTTG
TTTTG
 43 a0001c0001t0001g0010
a0001c0001t0002g0232
a0001c0001t0002g0237
others(40): Show 
a0001c0001t0001g0010
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0058
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0010g0213
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0029g0136
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0057g0225
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0093g0133
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0015t0052g0239
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0003g0156
a0002c0002t0015g0142
a0002c0002t0027g0157
a0002c0002t0048g0144
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0008c0012t0035g0069
 43 HG01099.hp2
HG01106.hp2
HG01175.hp2
others(40): Show 
HG01099.hp2
HG01106.hp2
HG01175.hp2
HG01192.hp2
HG02080.hp1
HG02129.hp1
HG02135.hp2
HG02280.hp1
HG02615.hp1
HG02622.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02895.hp2
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03453.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03710.hp2
HG04115.hp2
HG04228.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18959.hp2
NA18961.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19074.hp1
NA19084.hp1
NA19088.hp1
NA20129.hp1
 intron_variant MODIFIER c.1892+15902_1892+15
others(10): Show 
c.1892+15902_1892+15905dupCAAA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36880954
chr21:36880954 TTTTG
TTTTG
 T
T
 73 a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
others(70): Show 
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0113
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0019g0247
a0001c0001t0022g0187
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0031g0245
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0109g0119
a0001c0003t0111g0137
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0013t0022g0177
a0002c0002t0025g0149
a0006c0016t0001g0116
a0007c0014t0070g0131
a0009c0009t0012g0196
 73 HG00280.hp2
HG00323.hp2
HG00438.hp2
others(70): Show 
HG00280.hp2
HG00323.hp2
HG00438.hp2
HG00735.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02965.hp2
HG03130.hp1
HG03139.hp1
HG03195.hp2
HG03225.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03669.hp2
HG03704.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG06807.hp1
HG06807.hp2
NA18612.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18959.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18975.hp2
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19030.hp2
NA19068.hp2
NA19074.hp2
NA19240.hp1
NA19240.hp2
 intron_variant MODIFIER c.1892+15902_1892+15
others(10): Show 
c.1892+15902_1892+15905delCAAA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36880954
chr21:36880954 TTTTGTTT
others(1): Show 
TTTTGTTTG
 T
T
 10 a0001c0001t0012g0234
a0001c0001t0018g0189
a0001c0001t0024g0191
others(7): Show 
a0001c0001t0012g0234
a0001c0001t0018g0189
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0065g0252
a0001c0001t0106g0253
a0001c0004t0017g0219
a0001c0004t0017g0220
a0002c0002t0040g0242
a0002c0002t0064g0243
 10 HG01952.hp2
HG02559.hp2
HG02622.hp2
others(7): Show 
HG01952.hp2
HG02559.hp2
HG02622.hp2
HG02896.hp1
HG02897.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03225.hp2
HG04204.hp1
 intron_variant MODIFIER c.1892+15898_1892+15
others(14): Show 
c.1892+15898_1892+15905delCAAACAAA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36880954
chr21:36881114 T
T
 C
C
 163 a0001c0001t0001g0010
a0001c0001t0001g0077
a0001c0001t0001g0120
others(160): Show 
a0001c0001t0001g0010
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0257
a0001c0001t0031g0245
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0093g0133
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 163 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(160): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00639.hp1
HG00735.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02080.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19074.hp2
NA19084.hp1
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+15746A>G
c.1892+15746A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36881114
chr21:36881162 G
G
 T
T
 2 a0001c0001t0006g0019
a0001c0001t0094g0031
a0001c0001t0006g0019
a0001c0001t0094g0031
 2 NA18941.hp1
NA19009.hp1
NA18941.hp1
NA19009.hp1
 intron_variant MODIFIER c.1892+15698C>A
c.1892+15698C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36881162
chr21:36881174 TG
TG
 T
T
 4 a0001c0001t0010g0249
a0001c0001t0028g0192
a0001c0001t0044g0161
others(1): Show 
a0001c0001t0010g0249
a0001c0001t0028g0192
a0001c0001t0044g0161
a0001c0004t0017g0224
 4 HG02486.hp2
HG02647.hp2
HG02922.hp1
others(1): Show 
HG02486.hp2
HG02647.hp2
HG02922.hp1
HG03139.hp1
 intron_variant MODIFIER c.1892+15685delC
c.1892+15685delC
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36881174
chr21:36881176 G
G
 C
C
 4 a0001c0001t0010g0249
a0001c0001t0028g0192
a0001c0001t0044g0161
others(1): Show 
a0001c0001t0010g0249
a0001c0001t0028g0192
a0001c0001t0044g0161
a0001c0004t0017g0224
 4 HG02486.hp2
HG02647.hp2
HG02922.hp1
others(1): Show 
HG02486.hp2
HG02647.hp2
HG02922.hp1
HG03139.hp1
 intron_variant MODIFIER c.1892+15684C>G
c.1892+15684C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36881176
chr21:36881183 T
T
 C
C
 4 a0001c0001t0001g0080
a0001c0001t0005g0086
a0001c0001t0036g0123
others(1): Show 
a0001c0001t0001g0080
a0001c0001t0005g0086
a0001c0001t0036g0123
a0001c0001t0104g0114
 4 HG02040.hp2
NA18944.hp2
NA18948.hp2
others(1): Show 
HG02040.hp2
NA18944.hp2
NA18948.hp2
NA18952.hp1
 intron_variant MODIFIER c.1892+15677A>G
c.1892+15677A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36881183
chr21:36881185 G
G
 T
T
 8 a0001c0001t0012g0234
a0001c0001t0018g0189
a0001c0001t0024g0191
others(5): Show 
a0001c0001t0012g0234
a0001c0001t0018g0189
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0065g0252
a0001c0001t0106g0253
a0001c0004t0017g0219
a0001c0004t0017g0220
 8 HG01952.hp2
HG02622.hp2
HG02896.hp1
others(5): Show 
HG01952.hp2
HG02622.hp2
HG02896.hp1
HG02897.hp2
HG03041.hp2
HG03098.hp2
HG03225.hp2
HG04204.hp1
 intron_variant MODIFIER c.1892+15675C>A
c.1892+15675C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36881185
chr21:36881365 A
A
 T
T
 9 a0001c0001t0066g0059
a0001c0018t0004g0060
a0002c0002t0002g0143
others(6): Show 
a0001c0001t0066g0059
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0015g0142
a0002c0002t0027g0157
a0003c0005t0092g0134
 9 HG01106.hp2
HG01175.hp2
HG02135.hp2
others(6): Show 
HG01106.hp2
HG01175.hp2
HG02135.hp2
HG02602.hp1
HG02622.hp1
HG02723.hp1
NA18951.hp1
NA18961.hp1
NA19088.hp1
 intron_variant MODIFIER c.1892+15495T>A
c.1892+15495T>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36881365
chr21:36881516 G
G
 A
A
 1 a0005c0011t0033g0139
a0005c0011t0033g0139
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.1892+15344C>T
c.1892+15344C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36881516
chr21:36881594 G
G
 A
A
 1 a0001c0001t0013g0223
a0001c0001t0013g0223
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.1892+15266C>T
c.1892+15266C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36881594
chr21:36881595 T
T
 G
G
 62 a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
others(59): Show 
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0004g0138
a0001c0001t0005g0113
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0028g0167
a0001c0001t0030g0257
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0039g0126
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0071g0089
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0109g0119
a0001c0003t0111g0137
a0001c0013t0022g0177
a0006c0016t0001g0116
a0007c0014t0070g0131
a0009c0009t0012g0196
 62 HG00280.hp2
HG00323.hp2
HG00438.hp2
others(59): Show 
HG00280.hp2
HG00323.hp2
HG00438.hp2
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01346.hp1
HG01496.hp1
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02300.hp2
HG02523.hp2
HG02615.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp2
HG03540.hp1
HG03669.hp2
HG03704.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG06807.hp2
NA18612.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18959.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18975.hp2
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19030.hp2
NA19068.hp2
NA19074.hp2
NA19240.hp2
 intron_variant MODIFIER c.1892+15265A>C
c.1892+15265A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36881595
chr21:36881663 A
A
 C
C
 2 a0001c0001t0013g0240
a0001c0001t0057g0225
a0001c0001t0013g0240
a0001c0001t0057g0225
 2 NA18939.hp1
NA18979.hp1
NA18939.hp1
NA18979.hp1
 intron_variant MODIFIER c.1892+15197T>G
c.1892+15197T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36881663
chr21:36881734 T
T
 C
C
 4 a0001c0001t0010g0249
a0001c0001t0028g0192
a0001c0001t0044g0161
others(1): Show 
a0001c0001t0010g0249
a0001c0001t0028g0192
a0001c0001t0044g0161
a0001c0004t0017g0224
 4 HG02486.hp2
HG02647.hp2
HG02922.hp1
others(1): Show 
HG02486.hp2
HG02647.hp2
HG02922.hp1
HG03139.hp1
 intron_variant MODIFIER c.1892+15126A>G
c.1892+15126A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36881734
chr21:36881791 T
T
 A
A
 2 a0002c0002t0040g0242
a0002c0002t0064g0243
a0002c0002t0040g0242
a0002c0002t0064g0243
 2 HG02559.hp2
HG03041.hp1
HG02559.hp2
HG03041.hp1
 intron_variant MODIFIER c.1892+15069A>T
c.1892+15069A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36881791
chr21:36881815 G
G
 A
A
 5 a0001c0001t0019g0247
a0001c0001t0031g0245
a0001c0001t0073g0246
others(2): Show 
a0001c0001t0019g0247
a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0004t0072g0248
a0002c0002t0025g0149
 5 HG02559.hp1
HG03471.hp2
HG03516.hp1
others(2): Show 
HG02559.hp1
HG03471.hp2
HG03516.hp1
HG06807.hp1
NA19240.hp1
 intron_variant MODIFIER c.1892+15045C>T
c.1892+15045C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36881815
chr21:36881826 G
G
 A
A
 1 a0005c0011t0033g0139
a0005c0011t0033g0139
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.1892+15034C>T
c.1892+15034C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36881826
chr21:36881877 G
G
 A
A
 2 a0001c0001t0003g0226
a0008c0012t0035g0069
a0001c0001t0003g0226
a0008c0012t0035g0069
 2 NA18940.hp1
NA18984.hp1
NA18940.hp1
NA18984.hp1
 intron_variant MODIFIER c.1892+14983C>T
c.1892+14983C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36881877
chr21:36881878 C
C
 A
A
 6 a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0041g0148
others(3): Show 
a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0041g0148
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0062g0145
 6 HG00639.hp1
HG02280.hp2
HG03139.hp2
others(3): Show 
HG00639.hp1
HG02280.hp2
HG03139.hp2
HG03209.hp2
HG03579.hp2
NA18522.hp1
 intron_variant MODIFIER c.1892+14982G>T
c.1892+14982G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36881878
chr21:36882022 C
C
 T
T
 1 a0002c0002t0002g0143
a0002c0002t0002g0143
 1 NA19088.hp1
NA19088.hp1
 intron_variant MODIFIER c.1892+14838G>A
c.1892+14838G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36882022
chr21:36882086 T
T
 C
C
 4 a0001c0001t0005g0135
a0001c0001t0029g0136
a0001c0001t0069g0255
others(1): Show 
a0001c0001t0005g0135
a0001c0001t0029g0136
a0001c0001t0069g0255
a0001c0001t0093g0133
 4 HG01099.hp2
HG02615.hp1
HG02809.hp1
others(1): Show 
HG01099.hp2
HG02615.hp1
HG02809.hp1
HG02809.hp2
 intron_variant MODIFIER c.1892+14774A>G
c.1892+14774A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36882086
chr21:36882110 G
G
 A
A
 78 a0001c0001t0001g0010
a0001c0001t0002g0193
a0001c0001t0002g0232
others(75): Show 
a0001c0001t0001g0010
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0010g0213
a0001c0001t0010g0249
a0001c0001t0012g0234
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0031g0245
a0001c0001t0038g0054
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0073g0246
a0001c0001t0090g0005
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0067g0067
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0008c0012t0035g0069
 78 HG00639.hp1
HG01106.hp2
HG01109.hp1
others(75): Show 
HG00639.hp1
HG01106.hp2
HG01109.hp1
HG01175.hp2
HG01884.hp2
HG01891.hp1
HG01952.hp2
HG02080.hp1
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03710.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18959.hp2
NA18961.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19084.hp1
NA19088.hp1
NA19240.hp1
NA20129.hp1
 intron_variant MODIFIER c.1892+14750C>T
c.1892+14750C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36882110
chr21:36882207 G
G
 A
A
 1 a0001c0003t0003g0199
a0001c0003t0003g0199
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.1892+14653C>T
c.1892+14653C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36882207
chr21:36882269 G
G
 A
A
 77 a0001c0001t0001g0010
a0001c0001t0002g0193
a0001c0001t0002g0232
others(74): Show 
a0001c0001t0001g0010
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0010g0213
a0001c0001t0010g0249
a0001c0001t0012g0234
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0031g0245
a0001c0001t0038g0054
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0073g0246
a0001c0001t0090g0005
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0067g0067
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0008c0012t0035g0069
 77 HG00639.hp1
HG01106.hp2
HG01109.hp1
others(74): Show 
HG00639.hp1
HG01106.hp2
HG01109.hp1
HG01175.hp2
HG01884.hp2
HG01891.hp1
HG01952.hp2
HG02080.hp1
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03710.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18959.hp2
NA18961.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19084.hp1
NA19088.hp1
NA19240.hp1
NA20129.hp1
 intron_variant MODIFIER c.1892+14591C>T
c.1892+14591C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36882269
chr21:36882373 C
C
 T
T
 1 a0002c0002t0048g0144
a0002c0002t0048g0144
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.1892+14487G>A
c.1892+14487G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36882373
chr21:36882376 A
A
 G
G
 1 a0001c0001t0013g0223
a0001c0001t0013g0223
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.1892+14484T>C
c.1892+14484T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36882376
chr21:36882381 C
C
 G
G
 1 a0001c0017t0108g0082
a0001c0017t0108g0082
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.1892+14479G>C
c.1892+14479G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36882381
chr21:36882480 G
G
 A
A
 7 a0001c0001t0010g0213
a0001c0001t0015g0190
a0001c0001t0015g0197
others(4): Show 
a0001c0001t0010g0213
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0003c0005t0058g0214
 7 HG02280.hp1
HG02723.hp2
HG02886.hp1
others(4): Show 
HG02280.hp1
HG02723.hp2
HG02886.hp1
HG02895.hp2
HG02965.hp1
HG03209.hp1
HG03540.hp2
 intron_variant MODIFIER c.1892+14380C>T
c.1892+14380C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36882480
chr21:36882545 A
A
 G
G
 63 a0001c0001t0001g0010
a0001c0001t0002g0193
a0001c0001t0002g0232
others(60): Show 
a0001c0001t0001g0010
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0010g0213
a0001c0001t0010g0249
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0031g0245
a0001c0001t0038g0054
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0073g0246
a0001c0001t0090g0005
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0017g0224
a0001c0004t0067g0067
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0043g0152
a0002c0002t0048g0144
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0008c0012t0035g0069
 63 HG01106.hp2
HG01109.hp1
HG01175.hp2
others(60): Show 
HG01106.hp2
HG01109.hp1
HG01175.hp2
HG01884.hp2
HG01891.hp1
HG02080.hp1
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03710.hp2
HG04115.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18959.hp2
NA18961.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19084.hp1
NA19088.hp1
NA19240.hp1
NA20129.hp1
 intron_variant MODIFIER c.1892+14315T>C
c.1892+14315T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36882545
chr21:36882587 C
C
 T
T
 4 a0001c0001t0005g0135
a0001c0001t0029g0136
a0001c0001t0069g0255
others(1): Show 
a0001c0001t0005g0135
a0001c0001t0029g0136
a0001c0001t0069g0255
a0001c0001t0093g0133
 4 HG01099.hp2
HG02615.hp1
HG02809.hp1
others(1): Show 
HG01099.hp2
HG02615.hp1
HG02809.hp1
HG02809.hp2
 intron_variant MODIFIER c.1892+14273G>A
c.1892+14273G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36882587
chr21:36882613 T
T
 C
C
 1 a0001c0004t0042g0209
a0001c0004t0042g0209
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.1892+14247A>G
c.1892+14247A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36882613
chr21:36882620 CT
CT
 C
C
 150 a0001c0001t0001g0010
a0001c0001t0001g0062
a0001c0001t0001g0120
others(147): Show 
a0001c0001t0001g0010
a0001c0001t0001g0062
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0138
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0132
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0015g0141
a0001c0001t0015g0197
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0021g0129
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0257
a0001c0001t0031g0245
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0093g0133
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 150 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(147): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00639.hp1
HG00735.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02080.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp2
NA18940.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18959.hp2
NA18961.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp2
NA18979.hp1
NA18984.hp2
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19074.hp2
NA19084.hp1
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+14239delA
c.1892+14239delA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36882620
chr21:36882620 CTT
CTT
 C
C
 13 a0001c0001t0001g0077
a0001c0001t0003g0226
a0001c0001t0006g0127
others(10): Show 
a0001c0001t0001g0077
a0001c0001t0003g0226
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0015g0190
a0001c0001t0016g0098
a0001c0001t0026g0251
a0001c0001t0049g0233
a0001c0001t0065g0252
a0001c0001t0105g0053
a0001c0004t0017g0219
a0001c0004t0017g0220
a0002c0002t0064g0243
 13 HG01257.hp2
HG01884.hp2
HG02523.hp2
others(10): Show 
HG01257.hp2
HG01884.hp2
HG02523.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp2
NA18959.hp1
NA18977.hp2
NA18984.hp1
 intron_variant MODIFIER c.1892+14238_1892+14
others(8): Show 
c.1892+14238_1892+14239delAA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36882620
chr21:36882674 G
G
 A
A
 42 a0001c0001t0001g0010
a0001c0001t0002g0232
a0001c0001t0002g0237
others(39): Show 
a0001c0001t0001g0010
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0010g0249
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0028g0192
a0001c0001t0031g0245
a0001c0001t0044g0161
a0001c0001t0049g0233
a0001c0001t0057g0225
a0001c0001t0066g0059
a0001c0001t0073g0246
a0001c0001t0090g0005
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0017g0224
a0001c0004t0072g0248
a0001c0015t0052g0239
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0043g0152
a0002c0002t0048g0144
a0002c0002t0064g0243
a0003c0005t0092g0134
a0008c0012t0035g0069
 42 HG01106.hp2
HG01175.hp2
HG02080.hp1
others(39): Show 
HG01106.hp2
HG01175.hp2
HG02080.hp1
HG02129.hp1
HG02135.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02622.hp1
HG02647.hp2
HG02723.hp1
HG02922.hp1
HG03041.hp1
HG03139.hp1
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03516.hp2
HG03710.hp2
HG04115.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18959.hp2
NA18961.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19030.hp1
NA19084.hp1
NA19088.hp1
NA19240.hp1
 intron_variant MODIFIER c.1892+14186C>T
c.1892+14186C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36882674
chr21:36882682 C
C
 T
T
 25 a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
others(22): Show 
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0009g0178
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0018g0176
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0061g0163
a0001c0013t0022g0177
 25 HG00280.hp2
HG00323.hp2
HG01070.hp2
others(22): Show 
HG00280.hp2
HG00323.hp2
HG01070.hp2
HG01071.hp2
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG01496.hp1
HG01978.hp1
HG02300.hp2
HG02683.hp2
HG02886.hp2
HG02896.hp2
HG03130.hp1
HG03490.hp2
HG03492.hp2
HG03669.hp2
HG03704.hp2
HG03831.hp1
HG03927.hp2
NA18944.hp1
NA18967.hp1
NA18968.hp2
NA19004.hp2
NA19068.hp2
 intron_variant MODIFIER c.1892+14178G>A
c.1892+14178G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36882682
chr21:36882702 C
C
 A
A
 8 a0001c0001t0012g0234
a0001c0001t0018g0189
a0001c0001t0024g0191
others(5): Show 
a0001c0001t0012g0234
a0001c0001t0018g0189
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0065g0252
a0001c0001t0106g0253
a0001c0004t0017g0219
a0001c0004t0017g0220
 8 HG01952.hp2
HG02622.hp2
HG02896.hp1
others(5): Show 
HG01952.hp2
HG02622.hp2
HG02896.hp1
HG02897.hp2
HG03041.hp2
HG03098.hp2
HG03225.hp2
HG04204.hp1
 intron_variant MODIFIER c.1892+14158G>T
c.1892+14158G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36882702
chr21:36882801 T
T
 C
C
 78 a0001c0001t0001g0010
a0001c0001t0002g0193
a0001c0001t0002g0232
others(75): Show 
a0001c0001t0001g0010
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0010g0213
a0001c0001t0010g0249
a0001c0001t0012g0234
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0031g0245
a0001c0001t0038g0054
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0073g0246
a0001c0001t0090g0005
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0067g0067
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0008c0012t0035g0069
 78 HG00639.hp1
HG01106.hp2
HG01109.hp1
others(75): Show 
HG00639.hp1
HG01106.hp2
HG01109.hp1
HG01175.hp2
HG01884.hp2
HG01891.hp1
HG01952.hp2
HG02080.hp1
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03710.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18959.hp2
NA18961.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19084.hp1
NA19088.hp1
NA19240.hp1
NA20129.hp1
 intron_variant MODIFIER c.1892+14059A>G
c.1892+14059A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36882801
chr21:36882884 G
G
 A
A
 4 a0001c0001t0004g0138
a0001c0001t0006g0256
a0001c0001t0030g0257
others(1): Show 
a0001c0001t0004g0138
a0001c0001t0006g0256
a0001c0001t0030g0257
a0001c0001t0037g0254
 4 HG01175.hp1
HG02109.hp2
HG02615.hp2
others(1): Show 
HG01175.hp1
HG02109.hp2
HG02615.hp2
HG03130.hp2
 intron_variant MODIFIER c.1892+13976C>T
c.1892+13976C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36882884
chr21:36882919 C
C
 A
A
 8 a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
others(5): Show 
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0172
a0001c0001t0002g0183
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
 8 HG01070.hp2
HG01071.hp2
HG01168.hp2
others(5): Show 
HG01070.hp2
HG01071.hp2
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG02300.hp2
HG03490.hp2
HG03669.hp2
 intron_variant MODIFIER c.1892+13941G>T
c.1892+13941G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36882919
chr21:36882972 C
C
 T
T
 4 a0001c0001t0005g0135
a0001c0001t0029g0136
a0001c0001t0069g0255
others(1): Show 
a0001c0001t0005g0135
a0001c0001t0029g0136
a0001c0001t0069g0255
a0001c0001t0093g0133
 4 HG01099.hp2
HG02615.hp1
HG02809.hp1
others(1): Show 
HG01099.hp2
HG02615.hp1
HG02809.hp1
HG02809.hp2
 intron_variant MODIFIER c.1892+13888G>A
c.1892+13888G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36882972
chr21:36883237 C
C
 T
T
 21 a0001c0001t0002g0193
a0001c0001t0005g0052
a0001c0001t0010g0213
others(18): Show 
a0001c0001t0002g0193
a0001c0001t0005g0052
a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0019g0061
a0001c0001t0029g0051
a0001c0001t0038g0054
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0004t0067g0067
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
 21 HG01109.hp1
HG01884.hp2
HG01891.hp1
others(18): Show 
HG01109.hp1
HG01884.hp2
HG01891.hp1
HG02145.hp1
HG02280.hp1
HG02572.hp1
HG02723.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG03195.hp1
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03540.hp2
HG03579.hp1
NA19043.hp1
NA19043.hp2
NA20129.hp1
 intron_variant MODIFIER c.1892+13623G>A
c.1892+13623G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36883237
chr21:36883501 C
C
 T
T
 1 a0001c0001t0013g0223
a0001c0001t0013g0223
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.1892+13359G>A
c.1892+13359G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36883501
chr21:36883598 G
G
 C
C
 1 a0005c0011t0033g0139
a0005c0011t0033g0139
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.1892+13262C>G
c.1892+13262C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36883598
chr21:36883734 C
C
 A
A
 1 a0002c0002t0045g0151
a0002c0002t0045g0151
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.1892+13126G>T
c.1892+13126G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36883734
chr21:36883744 T
T
 C
C
 8 a0001c0001t0012g0234
a0001c0001t0018g0189
a0001c0001t0024g0191
others(5): Show 
a0001c0001t0012g0234
a0001c0001t0018g0189
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0065g0252
a0001c0001t0106g0253
a0001c0004t0017g0219
a0001c0004t0017g0220
 8 HG01952.hp2
HG02622.hp2
HG02896.hp1
others(5): Show 
HG01952.hp2
HG02622.hp2
HG02896.hp1
HG02897.hp2
HG03041.hp2
HG03098.hp2
HG03225.hp2
HG04204.hp1
 intron_variant MODIFIER c.1892+13116A>G
c.1892+13116A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36883744
chr21:36883904 C
C
 T
T
 8 a0001c0001t0012g0234
a0001c0001t0018g0189
a0001c0001t0024g0191
others(5): Show 
a0001c0001t0012g0234
a0001c0001t0018g0189
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0065g0252
a0001c0001t0106g0253
a0001c0004t0017g0219
a0001c0004t0017g0220
 8 HG01952.hp2
HG02622.hp2
HG02896.hp1
others(5): Show 
HG01952.hp2
HG02622.hp2
HG02896.hp1
HG02897.hp2
HG03041.hp2
HG03098.hp2
HG03225.hp2
HG04204.hp1
 intron_variant MODIFIER c.1892+12956G>A
c.1892+12956G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36883904
chr21:36883954 C
C
 T
T
 6 a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0041g0148
others(3): Show 
a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0041g0148
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0062g0145
 6 HG00639.hp1
HG02280.hp2
HG03139.hp2
others(3): Show 
HG00639.hp1
HG02280.hp2
HG03139.hp2
HG03209.hp2
HG03579.hp2
NA18522.hp1
 intron_variant MODIFIER c.1892+12906G>A
c.1892+12906G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36883954
chr21:36883975 A
A
 T
T
 6 a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0041g0148
others(3): Show 
a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0041g0148
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0062g0145
 6 HG00639.hp1
HG02280.hp2
HG03139.hp2
others(3): Show 
HG00639.hp1
HG02280.hp2
HG03139.hp2
HG03209.hp2
HG03579.hp2
NA18522.hp1
 intron_variant MODIFIER c.1892+12885T>A
c.1892+12885T>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36883975
chr21:36884052 G
G
 A
A
 1 a0001c0001t0013g0223
a0001c0001t0013g0223
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.1892+12808C>T
c.1892+12808C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36884052
chr21:36884117 C
C
 T
T
 233 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(230): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0075g0049
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 233 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(230): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02040.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18945.hp1
NA18945.hp2
NA18947.hp2
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1892+12743G>A
c.1892+12743G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36884117
chr21:36884121 G
G
 C
C
 6 a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0041g0148
others(3): Show 
a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0041g0148
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0062g0145
 6 HG00639.hp1
HG02280.hp2
HG03139.hp2
others(3): Show 
HG00639.hp1
HG02280.hp2
HG03139.hp2
HG03209.hp2
HG03579.hp2
NA18522.hp1
 intron_variant MODIFIER c.1892+12739C>G
c.1892+12739C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36884121
chr21:36884153 C
C
 T
T
 3 a0001c0001t0018g0176
a0001c0001t0051g0168
a0001c0013t0022g0177
a0001c0001t0018g0176
a0001c0001t0051g0168
a0001c0013t0022g0177
 3 HG02886.hp2
HG02896.hp2
HG03130.hp1
HG02886.hp2
HG02896.hp2
HG03130.hp1
 intron_variant MODIFIER c.1892+12707G>A
c.1892+12707G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36884153
chr21:36884154 G
G
 A
A
 2 a0002c0002t0013g0147
a0002c0002t0045g0151
a0002c0002t0013g0147
a0002c0002t0045g0151
 2 HG03139.hp2
NA18522.hp1
HG03139.hp2
NA18522.hp1
 intron_variant MODIFIER c.1892+12706C>T
c.1892+12706C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36884154
chr21:36884165 G
G
 A
A
 1 a0001c0001t0006g0256
a0001c0001t0006g0256
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.1892+12695C>T
c.1892+12695C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36884165
chr21:36884492 T
T
 A
A
 4 a0001c0001t0005g0135
a0001c0001t0029g0136
a0001c0001t0069g0255
others(1): Show 
a0001c0001t0005g0135
a0001c0001t0029g0136
a0001c0001t0069g0255
a0001c0001t0093g0133
 4 HG01099.hp2
HG02615.hp1
HG02809.hp1
others(1): Show 
HG01099.hp2
HG02615.hp1
HG02809.hp1
HG02809.hp2
 intron_variant MODIFIER c.1892+12368A>T
c.1892+12368A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36884492
chr21:36884674 A
A
 C
C
 5 a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
others(2): Show 
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0007t0007g0200
a0001c0007t0012g0207
 5 HG00323.hp1
HG01106.hp1
HG01109.hp2
others(2): Show 
HG00323.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG02257.hp1
 intron_variant MODIFIER c.1892+12186T>G
c.1892+12186T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36884674
chr21:36884776 C
C
 T
T
 1 a0009c0009t0012g0196
a0009c0009t0012g0196
 1 HG02647.hp1
HG02647.hp1
 intron_variant MODIFIER c.1892+12084G>A
c.1892+12084G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36884776
chr21:36885037 G
G
 A
A
 1 a0001c0001t0011g0103
a0001c0001t0011g0103
 1 NA18975.hp2
NA18975.hp2
 intron_variant MODIFIER c.1892+11823C>T
c.1892+11823C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36885037
chr21:36885037 G
G
 T
T
 1 a0001c0001t0013g0223
a0001c0001t0013g0223
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.1892+11823C>A
c.1892+11823C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36885037
chr21:36885085 T
T
 A
A
 4 a0001c0001t0005g0135
a0001c0001t0029g0136
a0001c0001t0069g0255
others(1): Show 
a0001c0001t0005g0135
a0001c0001t0029g0136
a0001c0001t0069g0255
a0001c0001t0093g0133
 4 HG01099.hp2
HG02615.hp1
HG02809.hp1
others(1): Show 
HG01099.hp2
HG02615.hp1
HG02809.hp1
HG02809.hp2
 intron_variant MODIFIER c.1892+11775A>T
c.1892+11775A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36885085
chr21:36885181 C
C
 A
A
 2 a0002c0002t0013g0147
a0002c0002t0045g0151
a0002c0002t0013g0147
a0002c0002t0045g0151
 2 HG03139.hp2
NA18522.hp1
HG03139.hp2
NA18522.hp1
 intron_variant MODIFIER c.1892+11679G>T
c.1892+11679G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36885181
chr21:36885334 C
C
 G
G
 4 a0001c0001t0005g0135
a0001c0001t0029g0136
a0001c0001t0069g0255
others(1): Show 
a0001c0001t0005g0135
a0001c0001t0029g0136
a0001c0001t0069g0255
a0001c0001t0093g0133
 4 HG01099.hp2
HG02615.hp1
HG02809.hp1
others(1): Show 
HG01099.hp2
HG02615.hp1
HG02809.hp1
HG02809.hp2
 intron_variant MODIFIER c.1892+11526G>C
c.1892+11526G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36885334
chr21:36885381 G
G
 A
A
 6 a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0041g0148
others(3): Show 
a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0041g0148
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0062g0145
 6 HG00639.hp1
HG02280.hp2
HG03139.hp2
others(3): Show 
HG00639.hp1
HG02280.hp2
HG03139.hp2
HG03209.hp2
HG03579.hp2
NA18522.hp1
 intron_variant MODIFIER c.1892+11479C>T
c.1892+11479C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36885381
chr21:36885419 G
G
 C
C
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 HG02027.hp1
HG02027.hp1
 intron_variant MODIFIER c.1892+11441C>G
c.1892+11441C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36885419
chr21:36885435 G
G
 A
A
 1 a0001c0001t0002g0158
a0001c0001t0002g0158
 1 HG03490.hp2
HG03490.hp2
 intron_variant MODIFIER c.1892+11425C>T
c.1892+11425C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36885435
chr21:36885507 C
C
 CA
CA
 6 a0001c0001t0005g0135
a0001c0001t0010g0164
a0001c0001t0029g0136
others(3): Show 
a0001c0001t0005g0135
a0001c0001t0010g0164
a0001c0001t0029g0136
a0001c0001t0069g0255
a0001c0001t0093g0133
a0002c0002t0040g0242
 6 HG01099.hp2
HG02559.hp2
HG02615.hp1
others(3): Show 
HG01099.hp2
HG02559.hp2
HG02615.hp1
HG02809.hp1
HG02809.hp2
NA18993.hp2
 intron_variant MODIFIER c.1892+11352dupT
c.1892+11352dupT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36885507
chr21:36885692 A
A
 G
G
 1 a0001c0001t0051g0168
a0001c0001t0051g0168
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.1892+11168T>C
c.1892+11168T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36885692
chr21:36886065 CT
CT
 C
C
 38 a0001c0001t0001g0010
a0001c0001t0002g0232
a0001c0001t0002g0237
others(35): Show 
a0001c0001t0001g0010
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0031g0245
a0001c0001t0049g0233
a0001c0001t0057g0225
a0001c0001t0066g0059
a0001c0001t0073g0246
a0001c0001t0090g0005
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0072g0248
a0001c0015t0052g0239
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0043g0152
a0002c0002t0048g0144
a0002c0002t0064g0243
a0003c0005t0092g0134
a0008c0012t0035g0069
 38 HG01106.hp2
HG01175.hp2
HG02080.hp1
others(35): Show 
HG01106.hp2
HG01175.hp2
HG02080.hp1
HG02129.hp1
HG02135.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02622.hp1
HG02723.hp1
HG03041.hp1
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03516.hp2
HG03710.hp2
HG04115.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18959.hp2
NA18961.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19030.hp1
NA19084.hp1
NA19088.hp1
NA19240.hp1
 intron_variant MODIFIER c.1892+10794delA
c.1892+10794delA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36886065
chr21:36886227 C
C
 T
T
 1 a0001c0001t0013g0223
a0001c0001t0013g0223
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.1892+10633G>A
c.1892+10633G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36886227
chr21:36886238 T
T
 C
C
 1 a0001c0001t0073g0246
a0001c0001t0073g0246
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.1892+10622A>G
c.1892+10622A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36886238
chr21:36886290 G
G
 A
A
 5 a0001c0001t0019g0247
a0001c0001t0031g0245
a0001c0001t0073g0246
others(2): Show 
a0001c0001t0019g0247
a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0004t0072g0248
a0002c0002t0025g0149
 5 HG02559.hp1
HG03471.hp2
HG03516.hp1
others(2): Show 
HG02559.hp1
HG03471.hp2
HG03516.hp1
HG06807.hp1
NA19240.hp1
 intron_variant MODIFIER c.1892+10570C>T
c.1892+10570C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36886290
chr21:36886336 G
G
 C
C
 1 a0001c0001t0032g0081
a0001c0001t0032g0081
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.1892+10524C>G
c.1892+10524C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36886336
chr21:36886368 G
G
 C
C
 1 a0001c0004t0017g0220
a0001c0004t0017g0220
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.1892+10492C>G
c.1892+10492C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36886368
chr21:36886376 C
C
 T
T
 160 a0001c0001t0001g0010
a0001c0001t0001g0077
a0001c0001t0001g0120
others(157): Show 
a0001c0001t0001g0010
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0257
a0001c0001t0031g0245
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0093g0133
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 160 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(157): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00639.hp1
HG00735.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02080.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
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.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19074.hp2
NA19084.hp1
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+10484G>A
c.1892+10484G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36886376
chr21:36886432 C
C
 CA
CA
 6 a0001c0001t0001g0120
a0001c0001t0003g0184
a0001c0001t0010g0169
others(3): Show 
a0001c0001t0001g0120
a0001c0001t0003g0184
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0003t0111g0137
a0007c0014t0070g0131
 6 HG00741.hp1
HG02083.hp2
HG02717.hp2
others(3): Show 
HG00741.hp1
HG02083.hp2
HG02717.hp2
NA18944.hp1
NA18967.hp1
NA19068.hp2
 intron_variant MODIFIER c.1892+10427dupT
c.1892+10427dupT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36886432
chr21:36886432 CA
CA
 C
C
 145 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(142): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0002g0174
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0175
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0094
a0001c0001t0005g0115
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0007g0194
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0213
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0022g0187
a0001c0001t0028g0192
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0073g0246
a0001c0001t0075g0049
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0094g0031
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0004g0046
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0015t0052g0239
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0008c0012t0035g0069
 145 HG00280.hp1
HG00323.hp1
HG00438.hp1
others(142): Show 
HG00280.hp1
HG00323.hp1
HG00438.hp1
HG00639.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01070.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01515.hp1
HG01516.hp1
HG01884.hp1
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02897.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18945.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19057.hp2
NA19068.hp1
NA19084.hp1
NA19088.hp1
NA19240.hp1
NA20129.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1892+10427delT
c.1892+10427delT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36886432
chr21:36886432 CAA
CAA
 C
C
 5 a0001c0001t0001g0074
a0001c0001t0005g0056
a0001c0001t0006g0012
others(2): Show 
a0001c0001t0001g0074
a0001c0001t0005g0056
a0001c0001t0006g0012
a0001c0003t0003g0204
a0002c0002t0041g0148
 5 HG00639.hp1
HG01169.hp2
NA18942.hp1
others(2): Show 
HG00639.hp1
HG01169.hp2
NA18942.hp1
NA18971.hp2
NA19074.hp1
 intron_variant MODIFIER c.1892+10426_1892+10
others(8): Show 
c.1892+10426_1892+10427delTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36886432
chr21:36886465 T
T
 C
C
 1 a0001c0004t0042g0209
a0001c0004t0042g0209
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.1892+10395A>G
c.1892+10395A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36886465
chr21:36886655 C
C
 T
T
 8 a0001c0001t0002g0193
a0001c0001t0005g0052
a0001c0001t0019g0061
others(5): Show 
a0001c0001t0002g0193
a0001c0001t0005g0052
a0001c0001t0019g0061
a0001c0001t0029g0051
a0001c0001t0038g0054
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0004t0067g0067
 8 HG01109.hp1
HG01884.hp2
HG01891.hp1
others(5): Show 
HG01109.hp1
HG01884.hp2
HG01891.hp1
HG02572.hp1
HG02818.hp2
HG02922.hp2
HG03453.hp2
NA19043.hp1
 intron_variant MODIFIER c.1892+10205G>A
c.1892+10205G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36886655
chr21:36886855 G
G
 A
A
 6 a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0041g0148
others(3): Show 
a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0041g0148
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0062g0145
 6 HG00639.hp1
HG02280.hp2
HG03139.hp2
others(3): Show 
HG00639.hp1
HG02280.hp2
HG03139.hp2
HG03209.hp2
HG03579.hp2
NA18522.hp1
 intron_variant MODIFIER c.1892+10005C>T
c.1892+10005C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36886855
chr21:36887013 C
C
 A
A
 3 a0001c0001t0071g0089
a0001c0001t0099g0124
a0009c0009t0012g0196
a0001c0001t0071g0089
a0001c0001t0099g0124
a0009c0009t0012g0196
 3 HG02647.hp1
NA19030.hp2
NA19240.hp2
HG02647.hp1
NA19030.hp2
NA19240.hp2
 intron_variant MODIFIER c.1892+9847G>T
c.1892+9847G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36887013
chr21:36887021 G
G
 A
A
 4 a0001c0001t0005g0135
a0001c0001t0029g0136
a0001c0001t0069g0255
others(1): Show 
a0001c0001t0005g0135
a0001c0001t0029g0136
a0001c0001t0069g0255
a0001c0001t0093g0133
 4 HG01099.hp2
HG02615.hp1
HG02809.hp1
others(1): Show 
HG01099.hp2
HG02615.hp1
HG02809.hp1
HG02809.hp2
 intron_variant MODIFIER c.1892+9839C>T
c.1892+9839C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36887021
chr21:36887025 G
G
 T
T
 2 a0002c0002t0040g0242
a0002c0002t0064g0243
a0002c0002t0040g0242
a0002c0002t0064g0243
 2 HG02559.hp2
HG03041.hp1
HG02559.hp2
HG03041.hp1
 intron_variant MODIFIER c.1892+9835C>A
c.1892+9835C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36887025
chr21:36887056 G
G
 A
A
 1 a0005c0011t0033g0139
a0005c0011t0033g0139
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.1892+9804C>T
c.1892+9804C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36887056
chr21:36887127 CT
CT
 C
C
 4 a0001c0001t0005g0135
a0001c0001t0029g0136
a0001c0001t0069g0255
others(1): Show 
a0001c0001t0005g0135
a0001c0001t0029g0136
a0001c0001t0069g0255
a0001c0001t0093g0133
 4 HG01099.hp2
HG02615.hp1
HG02809.hp1
others(1): Show 
HG01099.hp2
HG02615.hp1
HG02809.hp1
HG02809.hp2
 intron_variant MODIFIER c.1892+9732delA
c.1892+9732delA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36887127
chr21:36887129 CA
CA
 C
C
 201 a0001c0001t0001g0006
a0001c0001t0001g0011
a0001c0001t0001g0017
others(198): Show 
a0001c0001t0001g0006
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0002g0174
a0001c0001t0002g0193
a0001c0001t0002g0238
a0001c0001t0003g0175
a0001c0001t0003g0226
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0213
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0059g0180
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0091g0042
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0025g0146
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0006c0016t0001g0116
a0007c0014t0070g0131
a0009c0009t0012g0196
 201 HG00280.hp1
HG00323.hp1
HG00438.hp1
others(198): Show 
HG00280.hp1
HG00323.hp1
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03704.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp1
HG04115.hp1
HG04204.hp1
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18612.hp2
NA18939.hp2
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18961.hp1
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19009.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1892+9730delT
c.1892+9730delT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36887129
chr21:36887130 A
A
 C
C
 5 a0001c0001t0004g0045
a0001c0001t0005g0135
a0001c0001t0029g0136
others(2): Show 
a0001c0001t0004g0045
a0001c0001t0005g0135
a0001c0001t0029g0136
a0001c0001t0069g0255
a0001c0001t0093g0133
 5 HG01099.hp2
HG02486.hp1
HG02615.hp1
others(2): Show 
HG01099.hp2
HG02486.hp1
HG02615.hp1
HG02809.hp1
HG02809.hp2
 intron_variant MODIFIER c.1892+9730T>G
c.1892+9730T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36887130
chr21:36887287 G
G
 A
A
 21 a0001c0001t0002g0193
a0001c0001t0005g0052
a0001c0001t0010g0213
others(18): Show 
a0001c0001t0002g0193
a0001c0001t0005g0052
a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0019g0061
a0001c0001t0029g0051
a0001c0001t0038g0054
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0004t0067g0067
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
 21 HG01109.hp1
HG01884.hp2
HG01891.hp1
others(18): Show 
HG01109.hp1
HG01884.hp2
HG01891.hp1
HG02145.hp1
HG02280.hp1
HG02572.hp1
HG02723.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG03195.hp1
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03540.hp2
HG03579.hp1
NA19043.hp1
NA19043.hp2
NA20129.hp1
 intron_variant MODIFIER c.1892+9573C>T
c.1892+9573C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36887287
chr21:36887569 A
A
 G
G
 77 a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
others(74): Show 
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0113
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0022g0187
a0001c0001t0028g0167
a0001c0001t0030g0257
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0039g0126
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0071g0089
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0111g0137
a0001c0004t0042g0209
a0001c0004t0068g0088
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0006c0016t0001g0116
a0007c0014t0070g0131
a0009c0009t0012g0196
 77 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(74): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00735.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02300.hp2
HG02486.hp1
HG02523.hp2
HG02615.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG06807.hp2
NA18612.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18959.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18975.hp2
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19030.hp2
NA19068.hp2
NA19074.hp2
NA19240.hp2
NA20805.hp2
 intron_variant MODIFIER c.1892+9291T>C
c.1892+9291T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36887569
chr21:36887633 A
A
 G
G
 2 a0001c0001t0001g0043
a0004c0019t0112g0258
a0001c0001t0001g0043
a0004c0019t0112g0258
 2 HG01981.hp2
HG02300.hp1
HG01981.hp2
HG02300.hp1
 intron_variant MODIFIER c.1892+9227T>C
c.1892+9227T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36887633
chr21:36887657 T
T
 C
C
 4 a0001c0001t0005g0135
a0001c0001t0029g0136
a0001c0001t0069g0255
others(1): Show 
a0001c0001t0005g0135
a0001c0001t0029g0136
a0001c0001t0069g0255
a0001c0001t0093g0133
 4 HG01099.hp2
HG02615.hp1
HG02809.hp1
others(1): Show 
HG01099.hp2
HG02615.hp1
HG02809.hp1
HG02809.hp2
 intron_variant MODIFIER c.1892+9203A>G
c.1892+9203A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36887657
chr21:36887790 A
A
 G
G
 155 a0001c0001t0001g0010
a0001c0001t0001g0077
a0001c0001t0001g0120
others(152): Show 
a0001c0001t0001g0010
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0012g0234
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0030g0257
a0001c0001t0031g0245
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 155 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(152): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00639.hp1
HG00735.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02080.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
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.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19074.hp2
NA19084.hp1
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+9070T>C
c.1892+9070T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36887790
chr21:36887877 C
C
 T
T
 8 a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
others(5): Show 
a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0003c0005t0058g0214
 8 HG02280.hp1
HG02723.hp2
HG02886.hp1
others(5): Show 
HG02280.hp1
HG02723.hp2
HG02886.hp1
HG02895.hp2
HG02965.hp1
HG03209.hp1
HG03453.hp1
HG03540.hp2
 intron_variant MODIFIER c.1892+8983G>A
c.1892+8983G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36887877
chr21:36887999 C
C
 T
T
 6 a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0041g0148
others(3): Show 
a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0041g0148
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0062g0145
 6 HG00639.hp1
HG02280.hp2
HG03139.hp2
others(3): Show 
HG00639.hp1
HG02280.hp2
HG03139.hp2
HG03209.hp2
HG03579.hp2
NA18522.hp1
 intron_variant MODIFIER c.1892+8861G>A
c.1892+8861G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36887999
chr21:36888179 A
A
 G
G
 2 a0001c0001t0005g0094
a0001c0001t0098g0035
a0001c0001t0005g0094
a0001c0001t0098g0035
 2 NA18940.hp2
NA18975.hp1
NA18940.hp2
NA18975.hp1
 intron_variant MODIFIER c.1892+8681T>C
c.1892+8681T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888179
chr21:36888408 A
A
 T
T
 1 a0001c0004t0042g0209
a0001c0004t0042g0209
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.1892+8452T>A
c.1892+8452T>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888408
chr21:36888432 T
T
 TAAAAAAA
others(3): Show 
TAAAAAAAAAA
 1 a0001c0001t0012g0234
a0001c0001t0012g0234
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.1892+8418_1892+842
others(14): Show 
c.1892+8418_1892+8427dupTTTTTTTTTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888432
chr21:36888432 T
T
 TAAAAAAA
others(8): Show 
TAAAAAAAAAAAAAAA
 1 a0001c0001t0024g0211
a0001c0001t0024g0211
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.1892+8427_1892+842
others(19): Show 
c.1892+8427_1892+8428insTTTTTTTTTTTTTTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888432
chr21:36888432 T
T
 TAAAAAAA
others(9): Show 
TAAAAAAAAAAAAAAAA
 3 a0001c0001t0024g0191
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0001t0024g0191
a0001c0004t0017g0219
a0001c0004t0017g0220
 3 HG02896.hp1
HG02897.hp2
HG03098.hp2
HG02896.hp1
HG02897.hp2
HG03098.hp2
 intron_variant MODIFIER c.1892+8427_1892+842
others(20): Show 
c.1892+8427_1892+8428insTTTTTTTTTTTTTTTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888432
chr21:36888433 A
A
 T
T
 6 a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0041g0148
others(3): Show 
a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0041g0148
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0062g0145
 6 HG00639.hp1
HG02280.hp2
HG03139.hp2
others(3): Show 
HG00639.hp1
HG02280.hp2
HG03139.hp2
HG03209.hp2
HG03579.hp2
NA18522.hp1
 intron_variant MODIFIER c.1892+8427T>A
c.1892+8427T>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888433
chr21:36888435 AAAAAAAA
others(17): Show 
AAAAAAAAAAAATATATATATATAT
 A
A
 1 a0001c0001t0069g0255
a0001c0001t0069g0255
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.1892+8401_1892+842
others(28): Show 
c.1892+8401_1892+8424delATATATATATATATTTTTTTTTTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888435
chr21:36888435 AAAAAAAA
others(19): Show 
AAAAAAAAAAAATATATATATATATAT
 A
A
 1 a0001c0001t0029g0136
a0001c0001t0029g0136
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.1892+8399_1892+842
others(30): Show 
c.1892+8399_1892+8424delATATATATATATATATTTTTTTTTTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888435
chr21:36888435 AAAAAAAA
others(23): Show 
AAAAAAAAAAAATATATATATATATATATAT
 A
A
 3 a0001c0001t0004g0045
a0001c0001t0005g0135
a0001c0001t0093g0133
a0001c0001t0004g0045
a0001c0001t0005g0135
a0001c0001t0093g0133
 3 HG01099.hp2
HG02486.hp1
HG02615.hp1
HG01099.hp2
HG02486.hp1
HG02615.hp1
 intron_variant MODIFIER c.1892+8395_1892+842
others(34): Show 
c.1892+8395_1892+8424delATATATATATATATATATATTTTTTT
TTTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888435
chr21:36888435 AAAAAAAA
others(25): Show 
AAAAAAAAAAAATATATATATATATATATATAT
 A
A
 1 a0001c0001t0013g0223
a0001c0001t0013g0223
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.1892+8393_1892+842
others(36): Show 
c.1892+8393_1892+8424delATATATATATATATATATATATTTTT
TTTTTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888435
chr21:36888439 AAAAAAAA
others(19): Show 
AAAAAAAATATATATATATATATATAT
 A
A
 1 a0001c0004t0042g0209
a0001c0004t0042g0209
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.1892+8395_1892+842
others(30): Show 
c.1892+8395_1892+8420delATATATATATATATATATATTTTTTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888439
chr21:36888440 AAAAAAAT
others(4): Show 
AAAAAAATATAT
 A
A
 1 a0001c0006t0023g0222
a0001c0006t0023g0222
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.1892+8409_1892+841
others(15): Show 
c.1892+8409_1892+8419delATATATTTTTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888440
chr21:36888441 A
A
 T
T
 1 a0001c0001t0003g0166
a0001c0001t0003g0166
 1 NA19004.hp2
NA19004.hp2
 intron_variant MODIFIER c.1892+8419T>A
c.1892+8419T>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888441
chr21:36888441 AAAAAATA
others(9): Show 
AAAAAATATATATATAT
 A
A
 2 a0001c0001t0019g0247
a0001c0017t0108g0082
a0001c0001t0019g0247
a0001c0017t0108g0082
 2 HG03195.hp1
NA19240.hp1
HG03195.hp1
NA19240.hp1
 intron_variant MODIFIER c.1892+8403_1892+841
others(20): Show 
c.1892+8403_1892+8418delATATATATATATTTTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888441
chr21:36888442 AAAAATAT
others(4): Show 
AAAAATATATAT
 A
A
 1 a0001c0001t0055g0185
a0001c0001t0055g0185
 1 HG03492.hp2
HG03492.hp2
 intron_variant MODIFIER c.1892+8407_1892+841
others(15): Show 
c.1892+8407_1892+8417delATATATATTTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888442
chr21:36888442 AAAAATAT
others(6): Show 
AAAAATATATATAT
 A
A
 1 a0002c0002t0045g0151
a0002c0002t0045g0151
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.1892+8405_1892+841
others(17): Show 
c.1892+8405_1892+8417delATATATATATTTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888442
chr21:36888442 AAAAATAT
others(8): Show 
AAAAATATATATATAT
 A
A
 2 a0001c0006t0023g0212
a0002c0002t0013g0147
a0001c0006t0023g0212
a0002c0002t0013g0147
 2 HG03139.hp2
NA19043.hp2
HG03139.hp2
NA19043.hp2
 intron_variant MODIFIER c.1892+8403_1892+841
others(19): Show 
c.1892+8403_1892+8417delATATATATATATTTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888442
chr21:36888442 AAAAATAT
others(14): Show 
AAAAATATATATATATATATAT
 A
A
 7 a0001c0001t0001g0006
a0001c0001t0001g0017
a0001c0001t0004g0007
others(4): Show 
a0001c0001t0001g0006
a0001c0001t0001g0017
a0001c0001t0004g0007
a0001c0001t0016g0047
a0001c0001t0083g0013
a0001c0001t0086g0044
a0001c0001t0101g0008
 7 HG00738.hp1
HG01081.hp2
HG01243.hp2
others(4): Show 
HG00738.hp1
HG01081.hp2
HG01243.hp2
HG01516.hp1
HG03710.hp1
NA18961.hp2
NA19068.hp1
 intron_variant MODIFIER c.1892+8397_1892+841
others(25): Show 
c.1892+8397_1892+8417delATATATATATATATATATTTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888442
chr21:36888442 AAAAATAT
others(16): Show 
AAAAATATATATATATATATATAT
 A
A
 3 a0001c0001t0004g0009
a0001c0001t0004g0032
a0001c0008t0008g0001
a0001c0001t0004g0009
a0001c0001t0004g0032
a0001c0008t0008g0001
 3 HG01256.hp1
HG01515.hp1
HG04228.hp1
HG01256.hp1
HG01515.hp1
HG04228.hp1
 intron_variant MODIFIER c.1892+8395_1892+841
others(27): Show 
c.1892+8395_1892+8417delATATATATATATATATATATTTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888442
chr21:36888443 A
A
 T
T
 1 a0001c0001t0003g0166
a0001c0001t0003g0166
 1 NA19004.hp2
NA19004.hp2
 intron_variant MODIFIER c.1892+8417T>A
c.1892+8417T>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888443
chr21:36888443 AAAATATA
others(5): Show 
AAAATATATATAT
 A
A
 1 a0002c0002t0025g0146
a0002c0002t0025g0146
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.1892+8405_1892+841
others(16): Show 
c.1892+8405_1892+8416delATATATATATTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888443
chr21:36888443 AAAATATA
others(7): Show 
AAAATATATATATAT
 A
A
 1 a0002c0002t0064g0243
a0002c0002t0064g0243
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.1892+8403_1892+841
others(18): Show 
c.1892+8403_1892+8416delATATATATATATTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888443
chr21:36888443 AAAATATA
others(13): Show 
AAAATATATATATATATATAT
 A
A
 1 a0002c0002t0018g0153
a0002c0002t0018g0153
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.1892+8397_1892+841
others(24): Show 
c.1892+8397_1892+8416delATATATATATATATATATTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888443
chr21:36888443 AAAATATA
others(15): Show 
AAAATATATATATATATATATAT
 A
A
 5 a0001c0001t0004g0015
a0001c0001t0030g0048
a0001c0001t0038g0102
others(2): Show 
a0001c0001t0004g0015
a0001c0001t0030g0048
a0001c0001t0038g0102
a0001c0001t0075g0049
a0002c0002t0043g0152
 5 HG00741.hp2
HG01243.hp1
HG02109.hp1
others(2): Show 
HG00741.hp2
HG01243.hp1
HG02109.hp1
HG02572.hp2
HG03471.hp1
 intron_variant MODIFIER c.1892+8395_1892+841
others(26): Show 
c.1892+8395_1892+8416delATATATATATATATATATATTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888443
chr21:36888443 AAAATATA
others(27): Show 
AAAATATATATATATATATATATATATATATATAT
 A
A
 1 a0001c0001t0006g0132
a0001c0001t0006g0132
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.1892+8383_1892+841
others(38): Show 
c.1892+8383_1892+8416delATATATATATATATATATATATATAT
ATATATTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888443
chr21:36888444 AAATATAT
others(4): Show 
AAATATATATAT
 A
A
 1 a0001c0004t0067g0067
a0001c0004t0067g0067
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.1892+8405_1892+841
others(15): Show 
c.1892+8405_1892+8415delATATATATATT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888444
chr21:36888444 AAATATAT
others(8): Show 
AAATATATATATATAT
 A
A
 1 a0001c0001t0001g0037
a0001c0001t0001g0037
 1 HG02027.hp1
HG02027.hp1
 intron_variant MODIFIER c.1892+8401_1892+841
others(19): Show 
c.1892+8401_1892+8415delATATATATATATATT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888444
chr21:36888444 AAATATAT
others(10): Show 
AAATATATATATATATAT
 A
A
 1 a0001c0003t0054g0217
a0001c0003t0054g0217
 1 HG02129.hp1
HG02129.hp1
 intron_variant MODIFIER c.1892+8399_1892+841
others(21): Show 
c.1892+8399_1892+8415delATATATATATATATATT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888444
chr21:36888444 AAATATAT
others(14): Show 
AAATATATATATATATATATAT
 A
A
 7 a0001c0001t0001g0011
a0001c0001t0001g0028
a0001c0001t0002g0165
others(4): Show 
a0001c0001t0001g0011
a0001c0001t0001g0028
a0001c0001t0002g0165
a0001c0001t0003g0173
a0001c0001t0005g0021
a0001c0001t0006g0019
a0001c0010t0011g0020
 7 HG01978.hp1
HG02129.hp2
HG02523.hp1
others(4): Show 
HG01978.hp1
HG02129.hp2
HG02523.hp1
HG02683.hp2
NA18950.hp1
NA18970.hp1
NA19009.hp1
 intron_variant MODIFIER c.1892+8395_1892+841
others(25): Show 
c.1892+8395_1892+8415delATATATATATATATATATATT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888444
chr21:36888444 AAATATAT
others(16): Show 
AAATATATATATATATATATATAT
 A
A
 1 a0001c0001t0006g0012
a0001c0001t0006g0012
 1 NA19074.hp1
NA19074.hp1
 intron_variant MODIFIER c.1892+8393_1892+841
others(27): Show 
c.1892+8393_1892+8415delATATATATATATATATATATATT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888444
chr21:36888444 AAATATAT
others(20): Show 
AAATATATATATATATATATATATATAT
 A
A
 1 a0004c0019t0112g0258
a0004c0019t0112g0258
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.1892+8389_1892+841
others(31): Show 
c.1892+8389_1892+8415delATATATATATATATATATATATATAT
T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888444
chr21:36888445 A
A
 AAAATATA
others(3): Show 
AAAATATATAT
 1 a0001c0001t0078g0108
a0001c0001t0078g0108
 1 NA18942.hp2
NA18942.hp2
 intron_variant MODIFIER c.1892+8414_1892+841
others(14): Show 
c.1892+8414_1892+8415insATATATATTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888445
chr21:36888445 A
A
 T
T
 6 a0001c0001t0002g0158
a0001c0001t0003g0166
a0001c0001t0010g0213
others(3): Show 
a0001c0001t0002g0158
a0001c0001t0003g0166
a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0063g0208
 6 HG02280.hp1
HG02723.hp2
HG02965.hp1
others(3): Show 
HG02280.hp1
HG02723.hp2
HG02965.hp1
HG03453.hp1
HG03490.hp2
NA19004.hp2
 intron_variant MODIFIER c.1892+8415T>A
c.1892+8415T>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888445
chr21:36888445 AAT
AAT
 A
A
 9 a0001c0001t0005g0086
a0001c0001t0006g0125
a0001c0001t0011g0118
others(6): Show 
a0001c0001t0005g0086
a0001c0001t0006g0125
a0001c0001t0011g0118
a0001c0001t0035g0097
a0001c0001t0036g0140
a0001c0001t0071g0089
a0001c0001t0088g0105
a0001c0001t0109g0119
a0001c0003t0012g0205
 9 HG01106.hp1
HG01123.hp1
HG01516.hp2
others(6): Show 
HG01106.hp1
HG01123.hp1
HG01516.hp2
HG02965.hp2
NA18612.hp2
NA18944.hp2
NA18947.hp1
NA19074.hp2
NA19240.hp2
 intron_variant MODIFIER c.1892+8413_1892+841
others(6): Show 
c.1892+8413_1892+8414delAT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888445
chr21:36888445 AATAT
AATAT
 A
A
 8 a0001c0001t0001g0120
a0001c0001t0002g0238
a0001c0001t0006g0085
others(5): Show 
a0001c0001t0001g0120
a0001c0001t0002g0238
a0001c0001t0006g0085
a0001c0001t0006g0256
a0001c0001t0007g0227
a0001c0001t0008g0084
a0001c0001t0030g0257
a0001c0001t0082g0112
 8 HG01891.hp2
HG01981.hp1
HG02040.hp1
others(5): Show 
HG01891.hp2
HG01981.hp1
HG02040.hp1
HG02083.hp2
HG02615.hp2
HG03130.hp2
NA18612.hp1
NA20129.hp2
 intron_variant MODIFIER c.1892+8411_1892+841
others(8): Show 
c.1892+8411_1892+8414delATAT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888445
chr21:36888445 AATATAT
AATATAT
 A
A
 15 a0001c0001t0006g0109
a0001c0001t0010g0249
a0001c0001t0016g0106
others(12): Show 
a0001c0001t0006g0109
a0001c0001t0010g0249
a0001c0001t0016g0106
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0028g0192
a0001c0001t0032g0111
a0001c0001t0037g0083
a0001c0001t0044g0161
a0001c0001t0085g0110
a0001c0001t0087g0095
a0001c0003t0007g0215
a0001c0004t0017g0224
a0001c0007t0007g0200
a0006c0016t0001g0116
 15 HG00323.hp1
HG01109.hp2
HG01433.hp2
others(12): Show 
HG00323.hp1
HG01109.hp2
HG01433.hp2
HG01515.hp2
HG01975.hp1
HG02145.hp2
HG02486.hp2
HG02647.hp2
HG02922.hp1
HG03139.hp1
HG06807.hp2
NA18945.hp2
NA18989.hp1
NA18989.hp2
NA19057.hp1
 intron_variant MODIFIER c.1892+8409_1892+841
others(10): Show 
c.1892+8409_1892+8414delATATAT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888445
chr21:36888445 AATATATA
others(3): Show 
AATATATATAT
 A
A
 6 a0001c0001t0001g0027
a0001c0001t0001g0080
a0001c0001t0001g0122
others(3): Show 
a0001c0001t0001g0027
a0001c0001t0001g0080
a0001c0001t0001g0122
a0001c0001t0002g0174
a0001c0003t0003g0199
a0005c0011t0033g0139
 6 HG01346.hp1
HG02976.hp2
HG03669.hp1
others(3): Show 
HG01346.hp1
HG02976.hp2
HG03669.hp1
NA18948.hp1
NA18948.hp2
NA20805.hp2
 intron_variant MODIFIER c.1892+8405_1892+841
others(14): Show 
c.1892+8405_1892+8414delATATATATAT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888445
chr21:36888445 AATATATA
others(5): Show 
AATATATATATAT
 A
A
 3 a0001c0001t0107g0050
a0002c0002t0041g0148
a0002c0002t0062g0145
a0001c0001t0107g0050
a0002c0002t0041g0148
a0002c0002t0062g0145
 3 HG00639.hp1
HG03209.hp2
HG03453.hp2
HG00639.hp1
HG03209.hp2
HG03453.hp2
 intron_variant MODIFIER c.1892+8403_1892+841
others(16): Show 
c.1892+8403_1892+8414delATATATATATAT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888445
chr21:36888445 AATATATA
others(7): Show 
AATATATATATATAT
 A
A
 1 a0002c0002t0040g0242
a0002c0002t0040g0242
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.1892+8401_1892+841
others(18): Show 
c.1892+8401_1892+8414delATATATATATATAT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888445
chr21:36888445 AATATATA
others(9): Show 
AATATATATATATATAT
 A
A
 6 a0001c0001t0010g0164
a0001c0001t0022g0187
a0001c0001t0031g0245
others(3): Show 
a0001c0001t0010g0164
a0001c0001t0022g0187
a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0004t0072g0248
a0002c0002t0025g0149
 6 HG01884.hp1
HG02559.hp1
HG03471.hp2
others(3): Show 
HG01884.hp1
HG02559.hp1
HG03471.hp2
HG03516.hp1
HG06807.hp1
NA18993.hp2
 intron_variant MODIFIER c.1892+8399_1892+841
others(20): Show 
c.1892+8399_1892+8414delATATATATATATATAT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888445
chr21:36888445 AATATATA
others(13): Show 
AATATATATATATATATATAT
 A
A
 5 a0001c0001t0066g0059
a0002c0002t0002g0143
a0002c0002t0002g0154
others(2): Show 
a0001c0001t0066g0059
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0003g0156
a0002c0002t0027g0157
 5 HG01106.hp2
HG02135.hp2
NA18951.hp1
others(2): Show 
HG01106.hp2
HG02135.hp2
NA18951.hp1
NA18961.hp1
NA19088.hp1
 intron_variant MODIFIER c.1892+8395_1892+841
others(24): Show 
c.1892+8395_1892+8414delATATATATATATATATATAT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888445
chr21:36888445 AATATATA
others(15): Show 
AATATATATATATATATATATAT
 A
A
 5 a0001c0001t0005g0094
a0001c0001t0013g0231
a0001c0001t0097g0038
others(2): Show 
a0001c0001t0005g0094
a0001c0001t0013g0231
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0018t0004g0060
 5 HG02080.hp1
HG02622.hp1
NA18940.hp2
others(2): Show 
HG02080.hp1
HG02622.hp1
NA18940.hp2
NA18967.hp2
NA18975.hp1
 intron_variant MODIFIER c.1892+8393_1892+841
others(26): Show 
c.1892+8393_1892+8414delATATATATATATATATATATAT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888445
chr21:36888445 AATATATA
others(17): Show 
AATATATATATATATATATATATAT
 A
A
 9 a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0230
others(6): Show 
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0230
a0001c0001t0049g0233
a0002c0002t0002g0155
a0002c0002t0048g0144
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0092g0134
 9 HG01175.hp2
HG02602.hp1
HG03516.hp2
others(6): Show 
HG01175.hp2
HG02602.hp1
HG03516.hp2
HG03579.hp1
HG04228.hp2
NA18977.hp2
NA19009.hp2
NA19084.hp1
NA20129.hp1
 intron_variant MODIFIER c.1892+8391_1892+841
others(28): Show 
c.1892+8391_1892+8414delATATATATATATATATATATATAT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888445
chr21:36888445 AATATATA
others(27): Show 
AATATATATATATATATATATATATATATATATAT
 A
A
 2 a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0026g0250
a0001c0001t0026g0251
 2 HG01257.hp2
HG01258.hp1
HG01257.hp2
HG01258.hp1
 intron_variant MODIFIER c.1892+8381_1892+841
others(38): Show 
c.1892+8381_1892+8414delATATATATATATATATATATATATAT
ATATATAT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888445
chr21:36888446 AT
AT
 A
A
 4 a0001c0001t0002g0179
a0001c0001t0010g0169
a0001c0001t0018g0189
others(1): Show 
a0001c0001t0002g0179
a0001c0001t0010g0169
a0001c0001t0018g0189
a0001c0001t0033g0104
 4 HG01952.hp2
HG03540.hp1
NA18944.hp1
others(1): Show 
HG01952.hp2
HG03540.hp1
NA18944.hp1
NA18968.hp2
 intron_variant MODIFIER c.1892+8413delA
c.1892+8413delA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888446
chr21:36888446 ATATAT
ATATAT
 A
A
 5 a0001c0001t0002g0171
a0001c0001t0007g0162
a0001c0001t0009g0235
others(2): Show 
a0001c0001t0002g0171
a0001c0001t0007g0162
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0051g0168
 5 HG00323.hp2
HG01255.hp1
HG01361.hp2
others(2): Show 
HG00323.hp2
HG01255.hp1
HG01361.hp2
HG03130.hp1
HG03831.hp1
 intron_variant MODIFIER c.1892+8409_1892+841
others(9): Show 
c.1892+8409_1892+8413delATATA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888446
chr21:36888446 ATATATAT
others(4): Show 
ATATATATATAT
 A
A
 2 a0001c0001t0019g0061
a0001c0001t0105g0053
a0001c0001t0019g0061
a0001c0001t0105g0053
 2 HG01109.hp1
HG01884.hp2
HG01109.hp1
HG01884.hp2
 intron_variant MODIFIER c.1892+8403_1892+841
others(15): Show 
c.1892+8403_1892+8413delATATATATATA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888446
chr21:36888446 ATATATAT
others(6): Show 
ATATATATATATAT
 A
A
 3 a0001c0001t0007g0194
a0001c0001t0103g0100
a0002c0002t0046g0150
a0001c0001t0007g0194
a0001c0001t0103g0100
a0002c0002t0046g0150
 3 HG00438.hp2
HG03579.hp2
HG03831.hp2
HG00438.hp2
HG03579.hp2
HG03831.hp2
 intron_variant MODIFIER c.1892+8401_1892+841
others(17): Show 
c.1892+8401_1892+8413delATATATATATATA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888446
chr21:36888446 ATATATAT
others(8): Show 
ATATATATATATATAT
 A
A
 3 a0001c0001t0008g0055
a0001c0003t0060g0203
a0001c0004t0068g0088
a0001c0001t0008g0055
a0001c0003t0060g0203
a0001c0004t0068g0088
 3 HG02602.hp2
HG03195.hp2
NA18947.hp2
HG02602.hp2
HG03195.hp2
NA18947.hp2
 intron_variant MODIFIER c.1892+8399_1892+841
others(19): Show 
c.1892+8399_1892+8413delATATATATATATATA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888446
chr21:36888446 ATATATAT
others(10): Show 
ATATATATATATATATAT
 A
A
 2 a0001c0001t0084g0075
a0001c0003t0003g0204
a0001c0001t0084g0075
a0001c0003t0003g0204
 2 NA18971.hp2
homoSapiens_chm13v2.hp1
NA18971.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1892+8397_1892+841
others(21): Show 
c.1892+8397_1892+8413delATATATATATATATATA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888446
chr21:36888446 ATATATAT
others(12): Show 
ATATATATATATATATATAT
 A
A
 10 a0001c0001t0001g0043
a0001c0001t0001g0072
a0001c0001t0001g0074
others(7): Show 
a0001c0001t0001g0043
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0003g0226
a0001c0001t0004g0058
a0001c0001t0013g0240
a0001c0001t0090g0005
a0001c0001t0100g0073
a0008c0012t0035g0069
a0009c0009t0012g0196
 10 HG00280.hp1
HG01123.hp2
HG01169.hp2
others(7): Show 
HG00280.hp1
HG01123.hp2
HG01169.hp2
HG01192.hp2
HG02300.hp1
HG02647.hp1
HG04204.hp2
NA18939.hp1
NA18940.hp1
NA18984.hp1
 intron_variant MODIFIER c.1892+8395_1892+841
others(23): Show 
c.1892+8395_1892+8413delATATATATATATATATATA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888446
chr21:36888446 ATATATAT
others(14): Show 
ATATATATATATATATATATAT
 A
A
 38 a0001c0001t0001g0024
a0001c0001t0001g0036
a0001c0001t0001g0040
others(35): Show 
a0001c0001t0001g0024
a0001c0001t0001g0036
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0079
a0001c0001t0003g0175
a0001c0001t0003g0228
a0001c0001t0003g0244
a0001c0001t0004g0014
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0006g0029
a0001c0001t0008g0018
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0011g0022
a0001c0001t0014g0241
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0031g0057
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0039g0033
a0001c0001t0057g0225
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0081g0016
a0001c0001t0091g0042
a0001c0001t0094g0031
a0001c0001t0096g0025
a0001c0001t0110g0023
a0001c0003t0007g0210
a0001c0004t0004g0046
a0001c0015t0052g0239
 38 HG00438.hp1
HG00639.hp2
HG00673.hp2
others(35): Show 
HG00438.hp1
HG00639.hp2
HG00673.hp2
HG00738.hp2
HG01081.hp1
HG01099.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG02080.hp2
HG02083.hp1
HG02683.hp1
HG02717.hp1
HG02818.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp1
HG03492.hp1
HG03704.hp1
HG03710.hp2
HG04115.hp1
NA18941.hp1
NA18945.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp2
NA18968.hp1
NA18971.hp1
NA18977.hp1
NA18979.hp1
NA18993.hp1
NA19004.hp1
NA19057.hp2
NA20805.hp1
 intron_variant MODIFIER c.1892+8393_1892+841
others(25): Show 
c.1892+8393_1892+8413delATATATATATATATATATATA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888446
chr21:36888446 ATATATAT
others(16): Show 
ATATATATATATATATATATATAT
 A
A
 7 a0001c0001t0001g0010
a0001c0001t0005g0056
a0001c0001t0005g0115
others(4): Show 
a0001c0001t0001g0010
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0019g0101
a0001c0001t0028g0167
a0001c0001t0102g0063
a0002c0002t0015g0142
 7 HG02135.hp1
HG02723.hp1
HG03225.hp1
others(4): Show 
HG02135.hp1
HG02723.hp1
HG03225.hp1
HG04115.hp2
NA18942.hp1
NA18959.hp2
NA19030.hp1
 intron_variant MODIFIER c.1892+8391_1892+841
others(27): Show 
c.1892+8391_1892+8413delATATATATATATATATATATATA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888446
chr21:36888447 T
T
 A
A
 18 a0001c0001t0001g0092
a0001c0001t0002g0193
a0001c0001t0003g0184
others(15): Show 
a0001c0001t0001g0092
a0001c0001t0002g0193
a0001c0001t0003g0184
a0001c0001t0006g0096
a0001c0001t0006g0127
a0001c0001t0012g0234
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0039g0126
a0001c0001t0065g0252
a0001c0001t0074g0087
a0001c0001t0089g0099
a0001c0001t0104g0114
a0001c0001t0106g0253
a0001c0004t0017g0219
a0001c0004t0017g0220
 18 HG00735.hp2
HG01071.hp1
HG02027.hp2
others(15): Show 
HG00735.hp2
HG01071.hp1
HG02027.hp2
HG02040.hp2
HG02572.hp1
HG02622.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG03041.hp2
HG03098.hp2
HG03225.hp2
HG04204.hp1
NA18941.hp2
NA18984.hp2
NA19068.hp2
NA19088.hp2
 intron_variant MODIFIER c.1892+8413A>T
c.1892+8413A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888447
chr21:36888449 T
T
 A
A
 18 a0001c0001t0001g0092
a0001c0001t0003g0184
a0001c0001t0005g0086
others(15): Show 
a0001c0001t0001g0092
a0001c0001t0003g0184
a0001c0001t0005g0086
a0001c0001t0006g0096
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0018g0189
a0001c0001t0024g0211
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0036g0140
a0001c0001t0065g0252
a0001c0001t0071g0089
a0001c0001t0088g0105
a0001c0001t0106g0253
a0001c0003t0012g0205
 18 HG01106.hp1
HG01123.hp1
HG01516.hp2
others(15): Show 
HG01106.hp1
HG01123.hp1
HG01516.hp2
HG01952.hp2
HG02622.hp2
HG02895.hp1
HG02897.hp1
HG03041.hp2
HG03225.hp2
HG03540.hp1
HG04204.hp1
NA18612.hp2
NA18944.hp2
NA18947.hp1
NA19068.hp2
NA19074.hp2
NA19088.hp2
NA19240.hp2
 intron_variant MODIFIER c.1892+8411A>T
c.1892+8411A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888449
chr21:36888451 T
T
 A
A
 18 a0001c0001t0001g0120
a0001c0001t0002g0238
a0001c0001t0006g0085
others(15): Show 
a0001c0001t0001g0120
a0001c0001t0002g0238
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0227
a0001c0001t0008g0084
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0018g0189
a0001c0001t0030g0257
a0001c0001t0032g0081
a0001c0001t0033g0104
a0001c0001t0065g0252
a0001c0001t0082g0112
a0001c0001t0088g0105
a0001c0001t0106g0253
 18 HG01891.hp2
HG01952.hp2
HG01981.hp1
others(15): Show 
HG01891.hp2
HG01952.hp2
HG01981.hp1
HG02040.hp1
HG02083.hp2
HG02257.hp2
HG02615.hp2
HG02622.hp2
HG02895.hp1
HG02897.hp1
HG03041.hp2
HG03130.hp2
HG03540.hp1
HG04204.hp1
NA18612.hp1
NA18612.hp2
NA18947.hp1
NA20129.hp2
 intron_variant MODIFIER c.1892+8409A>T
c.1892+8409A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888451
chr21:36888453 T
T
 A
A
 22 a0001c0001t0001g0120
a0001c0001t0002g0238
a0001c0001t0006g0085
others(19): Show 
a0001c0001t0001g0120
a0001c0001t0002g0238
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0249
a0001c0001t0012g0234
a0001c0001t0016g0106
a0001c0001t0018g0189
a0001c0001t0028g0192
a0001c0001t0030g0257
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0065g0252
a0001c0001t0085g0110
a0001c0001t0087g0095
a0001c0001t0106g0253
a0001c0003t0007g0215
a0001c0007t0007g0200
 22 HG00323.hp1
HG01109.hp2
HG01255.hp1
others(19): Show 
HG00323.hp1
HG01109.hp2
HG01255.hp1
HG01361.hp2
HG01952.hp2
HG01975.hp1
HG02083.hp2
HG02145.hp2
HG02615.hp2
HG02622.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp1
HG03041.hp2
HG03139.hp1
HG03540.hp1
HG04204.hp1
HG06807.hp2
NA18612.hp1
NA18945.hp2
NA18989.hp2
NA20129.hp2
 intron_variant MODIFIER c.1892+8407A>T
c.1892+8407A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888453
chr21:36888455 T
T
 A
A
 9 a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0018g0189
others(6): Show 
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0018g0189
a0001c0001t0059g0180
a0001c0001t0065g0252
a0001c0001t0087g0095
a0001c0001t0106g0253
a0001c0003t0007g0221
a0001c0007t0012g0207
 9 HG01070.hp1
HG01168.hp1
HG01256.hp2
others(6): Show 
HG01070.hp1
HG01168.hp1
HG01256.hp2
HG01258.hp2
HG01952.hp2
HG02257.hp1
HG02622.hp2
HG03041.hp2
NA18989.hp2
 intron_variant MODIFIER c.1892+8405A>T
c.1892+8405A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888455
chr21:36888457 T
T
 A
A
 8 a0001c0001t0001g0027
a0001c0001t0001g0080
a0001c0001t0002g0174
others(5): Show 
a0001c0001t0001g0027
a0001c0001t0001g0080
a0001c0001t0002g0174
a0001c0001t0059g0180
a0001c0001t0065g0252
a0001c0001t0087g0095
a0001c0001t0106g0253
a0005c0011t0033g0139
 8 HG01070.hp1
HG02622.hp2
HG02976.hp2
others(5): Show 
HG01070.hp1
HG02622.hp2
HG02976.hp2
HG03041.hp2
NA18948.hp1
NA18948.hp2
NA18989.hp2
NA20805.hp2
 intron_variant MODIFIER c.1892+8403A>T
c.1892+8403A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888457
chr21:36888459 T
T
 A
A
 7 a0001c0001t0019g0061
a0001c0001t0065g0252
a0001c0001t0087g0095
others(4): Show 
a0001c0001t0019g0061
a0001c0001t0065g0252
a0001c0001t0087g0095
a0001c0001t0105g0053
a0001c0001t0106g0253
a0002c0002t0062g0145
a0005c0011t0033g0139
 7 HG01109.hp1
HG01884.hp2
HG02622.hp2
others(4): Show 
HG01109.hp1
HG01884.hp2
HG02622.hp2
HG02976.hp2
HG03041.hp2
HG03209.hp2
NA18989.hp2
 intron_variant MODIFIER c.1892+8401A>T
c.1892+8401A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888459
chr21:36888461 T
T
 A
A
 3 a0001c0001t0106g0253
a0002c0002t0046g0150
a0005c0011t0033g0139
a0001c0001t0106g0253
a0002c0002t0046g0150
a0005c0011t0033g0139
 3 HG02622.hp2
HG02976.hp2
HG03579.hp2
HG02622.hp2
HG02976.hp2
HG03579.hp2
 intron_variant MODIFIER c.1892+8399A>T
c.1892+8399A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888461
chr21:36888463 T
T
 A
A
 2 a0001c0001t0010g0164
a0001c0001t0022g0187
a0001c0001t0010g0164
a0001c0001t0022g0187
 2 HG01884.hp1
NA18993.hp2
HG01884.hp1
NA18993.hp2
 intron_variant MODIFIER c.1892+8397A>T
c.1892+8397A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888463
chr21:36888467 T
T
 A
A
 8 a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0100g0073
others(5): Show 
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0100g0073
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0003g0156
a0002c0002t0027g0157
a0009c0009t0012g0196
 8 HG00280.hp1
HG01123.hp2
HG01169.hp2
others(5): Show 
HG00280.hp1
HG01123.hp2
HG01169.hp2
HG02135.hp2
HG02647.hp1
NA18951.hp1
NA18961.hp1
NA19088.hp1
 intron_variant MODIFIER c.1892+8393A>T
c.1892+8393A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888467
chr21:36888469 T
T
 A
A
 12 a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
others(9): Show 
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0003g0244
a0001c0001t0005g0094
a0001c0001t0008g0018
a0001c0001t0031g0057
a0001c0001t0039g0033
a0001c0001t0098g0035
a0001c0003t0007g0210
a0009c0009t0012g0196
 12 HG00438.hp1
HG01361.hp1
HG01975.hp2
others(9): Show 
HG00438.hp1
HG01361.hp1
HG01975.hp2
HG02647.hp1
HG02717.hp1
HG03239.hp1
NA18940.hp2
NA18952.hp2
NA18975.hp1
NA18993.hp1
NA19057.hp2
NA20805.hp1
 intron_variant MODIFIER c.1892+8391A>T
c.1892+8391A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888469
chr21:36888471 T
T
 A
A
 10 a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0028g0167
others(7): Show 
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0028g0167
a0001c0001t0049g0233
a0002c0002t0002g0155
a0002c0002t0048g0144
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0092g0134
a0009c0009t0012g0196
 10 HG01175.hp2
HG02602.hp1
HG02647.hp1
others(7): Show 
HG01175.hp2
HG02602.hp1
HG02647.hp1
HG03225.hp1
HG03516.hp2
HG03579.hp1
NA18977.hp2
NA19009.hp2
NA19084.hp1
NA20129.hp1
 intron_variant MODIFIER c.1892+8389A>T
c.1892+8389A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888471
chr21:36888473 T
T
 A
A
 1 a0002c0002t0048g0144
a0002c0002t0048g0144
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.1892+8387A>T
c.1892+8387A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888473
chr21:36888474 ATATATAT
others(17): Show 
ATATATATATATATATATATATATT
 A
A
 1 a0001c0001t0065g0252
a0001c0001t0065g0252
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.1892+8362_1892+838
others(28): Show 
c.1892+8362_1892+8385delAATATATATATATATATATATATA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888474
chr21:36888476 ATATATAT
others(15): Show 
ATATATATATATATATATATATT
 A
A
 1 a0001c0001t0106g0253
a0001c0001t0106g0253
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.1892+8362_1892+838
others(26): Show 
c.1892+8362_1892+8383delAATATATATATATATATATATA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888476
chr21:36888484 ATATATAT
others(7): Show 
ATATATATATATATT
 A
A
 1 a0001c0001t0001g0077
a0001c0001t0001g0077
 1 NA18959.hp1
NA18959.hp1
 intron_variant MODIFIER c.1892+8362_1892+837
others(18): Show 
c.1892+8362_1892+8375delAATATATATATATA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888484
chr21:36888490 A
A
 T
T
 19 a0001c0001t0001g0006
a0001c0001t0002g0174
a0001c0001t0004g0007
others(16): Show 
a0001c0001t0001g0006
a0001c0001t0002g0174
a0001c0001t0004g0007
a0001c0001t0007g0194
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0015g0141
a0001c0001t0056g0198
a0001c0001t0083g0013
a0001c0001t0101g0008
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0004t0042g0209
a0001c0004t0068g0088
a0001c0007t0007g0200
a0001c0007t0012g0207
 19 HG00323.hp1
HG00735.hp1
HG00738.hp1
others(16): Show 
HG00323.hp1
HG00735.hp1
HG00738.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01516.hp1
HG02257.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03669.hp1
HG03831.hp2
NA20805.hp2
 intron_variant MODIFIER c.1892+8370T>A
c.1892+8370T>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888490
chr21:36888490 ATATATAT
others(1): Show 
ATATATATT
 A
A
 3 a0001c0001t0016g0098
a0001c0001t0037g0254
a0001c0001t0089g0099
a0001c0001t0016g0098
a0001c0001t0037g0254
a0001c0001t0089g0099
 3 HG01071.hp1
HG02109.hp2
HG02523.hp2
HG01071.hp1
HG02109.hp2
HG02523.hp2
 intron_variant MODIFIER c.1892+8362_1892+836
others(12): Show 
c.1892+8362_1892+8369delAATATATA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888490
chr21:36888494 A
A
 T
T
 124 a0001c0001t0001g0006
a0001c0001t0001g0011
a0001c0001t0001g0017
others(121): Show 
a0001c0001t0001g0006
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0120
a0001c0001t0002g0174
a0001c0001t0002g0238
a0001c0001t0003g0175
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0058
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0127
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0213
a0001c0001t0011g0022
a0001c0001t0013g0223
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0106
a0001c0001t0018g0189
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0036g0123
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0071g0089
a0001c0001t0075g0049
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0094g0031
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0104g0114
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0042g0209
a0001c0004t0068g0088
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0008t0008g0001
a0001c0010t0011g0020
a0002c0002t0002g0154
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0041g0148
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0062g0145
a0003c0005t0058g0214
a0004c0019t0112g0258
a0007c0014t0070g0131
 124 HG00280.hp1
HG00323.hp1
HG00438.hp1
others(121): Show 
HG00280.hp1
HG00323.hp1
HG00438.hp1
HG00639.hp1
HG00639.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01169.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01515.hp1
HG01516.hp1
HG01884.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02040.hp1
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02523.hp1
HG02572.hp2
HG02602.hp2
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03490.hp1
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03669.hp1
HG03704.hp1
HG03710.hp1
HG03831.hp2
HG04115.hp1
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18612.hp2
NA18940.hp2
NA18941.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1892+8366T>A
c.1892+8366T>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888494
chr21:36888497 T
T
 TATATATA
others(4): Show 
TATATATATATA
 1 a0001c0001t0053g0186
a0001c0001t0053g0186
 1 HG03927.hp2
HG03927.hp2
 intron_variant MODIFIER c.1892+8362_1892+836
others(15): Show 
c.1892+8362_1892+8363insTATATATATAT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888497
chr21:36888498 T
T
 A
A
 11 a0001c0001t0001g0128
a0001c0001t0002g0172
a0001c0001t0003g0226
others(8): Show 
a0001c0001t0001g0128
a0001c0001t0002g0172
a0001c0001t0003g0226
a0001c0001t0008g0078
a0001c0001t0018g0176
a0001c0001t0061g0163
a0001c0001t0103g0100
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
a0009c0009t0012g0196
 11 HG00438.hp2
HG01070.hp2
HG01071.hp2
others(8): Show 
HG00438.hp2
HG01070.hp2
HG01071.hp2
HG02145.hp1
HG02647.hp1
HG02886.hp2
HG03195.hp1
HG03704.hp2
HG03927.hp1
NA18984.hp1
NA19043.hp2
 intron_variant MODIFIER c.1892+8362A>T
c.1892+8362A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888498
chr21:36888502 T
T
 A
A
 1 a0001c0001t0008g0078
a0001c0001t0008g0078
 1 HG03927.hp1
HG03927.hp1
 intron_variant MODIFIER c.1892+8358A>T
c.1892+8358A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888502
chr21:36888558 A
A
 G
G
 11 a0001c0001t0002g0174
a0001c0001t0007g0194
a0001c0001t0009g0201
others(8): Show 
a0001c0001t0002g0174
a0001c0001t0007g0194
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0007t0007g0200
a0001c0007t0012g0207
 11 HG00323.hp1
HG01106.hp1
HG01109.hp2
others(8): Show 
HG00323.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG02257.hp1
HG03669.hp1
HG03831.hp2
NA20805.hp2
 intron_variant MODIFIER c.1892+8302T>C
c.1892+8302T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888558
chr21:36888630 G
G
 A
A
 5 a0001c0001t0019g0247
a0001c0001t0031g0245
a0001c0001t0073g0246
others(2): Show 
a0001c0001t0019g0247
a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0004t0072g0248
a0002c0002t0025g0149
 5 HG02559.hp1
HG03471.hp2
HG03516.hp1
others(2): Show 
HG02559.hp1
HG03471.hp2
HG03516.hp1
HG06807.hp1
NA19240.hp1
 intron_variant MODIFIER c.1892+8230C>T
c.1892+8230C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888630
chr21:36888672 C
C
 T
T
 1 a0001c0001t0049g0233
a0001c0001t0049g0233
 1 NA18977.hp2
NA18977.hp2
 intron_variant MODIFIER c.1892+8188G>A
c.1892+8188G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888672
chr21:36888676 C
C
 T
T
 153 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0077
others(150): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0077
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0007
a0001c0001t0004g0138
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0012g0234
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0030g0257
a0001c0001t0031g0245
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0090g0005
a0001c0001t0099g0124
a0001c0001t0101g0008
a0001c0001t0103g0100
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0092g0134
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 153 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(150): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00639.hp1
HG00735.hp1
HG00738.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02080.hp1
HG02109.hp2
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
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.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19074.hp2
NA19084.hp1
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+8184G>A
c.1892+8184G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888676
chr21:36888683 G
G
 A
A
 1 a0001c0001t0021g0076
a0001c0001t0021g0076
 1 HG01433.hp2
HG01433.hp2
 intron_variant MODIFIER c.1892+8177C>T
c.1892+8177C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888683
chr21:36888743 C
C
 A
A
 69 a0001c0001t0001g0006
a0001c0001t0001g0011
a0001c0001t0001g0017
others(66): Show 
a0001c0001t0001g0006
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0003g0175
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0058
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0094
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0011g0022
a0001c0001t0014g0241
a0001c0001t0016g0047
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0075g0049
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0091g0042
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0110g0023
a0001c0003t0007g0210
a0001c0008t0008g0001
a0001c0010t0011g0020
a0003c0005t0058g0214
a0004c0019t0112g0258
 69 HG00280.hp1
HG00438.hp1
HG00639.hp2
others(66): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp2
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01123.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02300.hp1
HG02523.hp1
HG02572.hp2
HG02602.hp2
HG02683.hp1
HG02717.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp1
HG03492.hp1
HG03540.hp2
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04228.hp1
NA18940.hp2
NA18941.hp1
NA18948.hp1
NA18950.hp1
NA18951.hp2
NA18952.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1892+8117G>T
c.1892+8117G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888743
chr21:36888896 C
C
 T
T
 8 a0001c0001t0005g0052
a0001c0001t0019g0061
a0001c0001t0105g0053
others(5): Show 
a0001c0001t0005g0052
a0001c0001t0019g0061
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0004t0067g0067
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
 8 HG01109.hp1
HG01884.hp2
HG01891.hp1
others(5): Show 
HG01109.hp1
HG01884.hp2
HG01891.hp1
HG02145.hp1
HG03195.hp1
HG03453.hp2
NA19043.hp1
NA19043.hp2
 intron_variant MODIFIER c.1892+7964G>A
c.1892+7964G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36888896
chr21:36889043 G
G
 A
A
 1 a0001c0001t0012g0234
a0001c0001t0012g0234
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.1892+7817C>T
c.1892+7817C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36889043
chr21:36889046 A
A
 T
T
 4 a0001c0001t0004g0045
a0001c0001t0005g0135
a0001c0001t0029g0136
others(1): Show 
a0001c0001t0004g0045
a0001c0001t0005g0135
a0001c0001t0029g0136
a0001c0001t0093g0133
 4 HG01099.hp2
HG02486.hp1
HG02615.hp1
others(1): Show 
HG01099.hp2
HG02486.hp1
HG02615.hp1
HG02809.hp1
 intron_variant MODIFIER c.1892+7814T>A
c.1892+7814T>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36889046
chr21:36889123 G
G
 C
C
 3 a0002c0002t0025g0146
a0002c0002t0041g0148
a0002c0002t0062g0145
a0002c0002t0025g0146
a0002c0002t0041g0148
a0002c0002t0062g0145
 3 HG00639.hp1
HG02280.hp2
HG03209.hp2
HG00639.hp1
HG02280.hp2
HG03209.hp2
 intron_variant MODIFIER c.1892+7737C>G
c.1892+7737C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36889123
chr21:36889185 C
C
 T
T
 4 a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0004t0017g0219
others(1): Show 
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0004t0017g0219
a0001c0004t0017g0220
 4 HG02896.hp1
HG02897.hp2
HG03098.hp2
others(1): Show 
HG02896.hp1
HG02897.hp2
HG03098.hp2
HG03225.hp2
 intron_variant MODIFIER c.1892+7675G>A
c.1892+7675G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36889185
chr21:36889290 C
C
 T
T
 3 a0001c0001t0006g0132
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0006g0132
a0001c0001t0026g0250
a0001c0001t0026g0251
 3 HG01257.hp2
HG01258.hp1
HG02976.hp1
HG01257.hp2
HG01258.hp1
HG02976.hp1
 intron_variant MODIFIER c.1892+7570G>A
c.1892+7570G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36889290
chr21:36889305 T
T
 C
C
 1 a0001c0004t0042g0209
a0001c0004t0042g0209
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.1892+7555A>G
c.1892+7555A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36889305
chr21:36889341 C
C
 A
A
 1 a0001c0001t0013g0223
a0001c0001t0013g0223
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.1892+7519G>T
c.1892+7519G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36889341
chr21:36889419 T
T
 C
C
 1 a0005c0011t0033g0139
a0005c0011t0033g0139
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.1892+7441A>G
c.1892+7441A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36889419
chr21:36889423 T
T
 C
C
 1 a0001c0001t0013g0223
a0001c0001t0013g0223
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.1892+7437A>G
c.1892+7437A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36889423
chr21:36889501 G
G
 C
C
 1 a0002c0002t0048g0144
a0002c0002t0048g0144
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.1892+7359C>G
c.1892+7359C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36889501
chr21:36889541 A
A
 G
G
 78 a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
others(75): Show 
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0004g0138
a0001c0001t0005g0113
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0022g0187
a0001c0001t0028g0167
a0001c0001t0030g0257
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0039g0126
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0111g0137
a0001c0004t0042g0209
a0001c0004t0068g0088
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0006c0016t0001g0116
a0007c0014t0070g0131
a0009c0009t0012g0196
 78 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(75): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00735.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02300.hp2
HG02523.hp2
HG02572.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG06807.hp2
NA18612.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18959.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18975.hp2
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19030.hp2
NA19068.hp2
NA19074.hp2
NA19240.hp2
NA20805.hp2
 intron_variant MODIFIER c.1892+7319T>C
c.1892+7319T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36889541
chr21:36889543 C
C
 T
T
 4 a0001c0001t0004g0045
a0001c0001t0005g0135
a0001c0001t0029g0136
others(1): Show 
a0001c0001t0004g0045
a0001c0001t0005g0135
a0001c0001t0029g0136
a0001c0001t0093g0133
 4 HG01099.hp2
HG02486.hp1
HG02615.hp1
others(1): Show 
HG01099.hp2
HG02486.hp1
HG02615.hp1
HG02809.hp1
 intron_variant MODIFIER c.1892+7317G>A
c.1892+7317G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36889543
chr21:36889550 G
G
 A
A
 3 a0001c0001t0006g0132
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0006g0132
a0001c0001t0026g0250
a0001c0001t0026g0251
 3 HG01257.hp2
HG01258.hp1
HG02976.hp1
HG01257.hp2
HG01258.hp1
HG02976.hp1
 intron_variant MODIFIER c.1892+7310C>T
c.1892+7310C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36889550
chr21:36889577 G
G
 A
A
 3 a0001c0001t0018g0176
a0001c0001t0051g0168
a0001c0013t0022g0177
a0001c0001t0018g0176
a0001c0001t0051g0168
a0001c0013t0022g0177
 3 HG02886.hp2
HG02896.hp2
HG03130.hp1
HG02886.hp2
HG02896.hp2
HG03130.hp1
 intron_variant MODIFIER c.1892+7283C>T
c.1892+7283C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36889577
chr21:36889709 G
G
 A
A
 3 a0001c0001t0005g0135
a0001c0001t0029g0136
a0001c0001t0093g0133
a0001c0001t0005g0135
a0001c0001t0029g0136
a0001c0001t0093g0133
 3 HG01099.hp2
HG02615.hp1
HG02809.hp1
HG01099.hp2
HG02615.hp1
HG02809.hp1
 intron_variant MODIFIER c.1892+7151C>T
c.1892+7151C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36889709
chr21:36889757 T
T
 C
C
 4 a0001c0001t0004g0045
a0001c0001t0005g0135
a0001c0001t0029g0136
others(1): Show 
a0001c0001t0004g0045
a0001c0001t0005g0135
a0001c0001t0029g0136
a0001c0001t0093g0133
 4 HG01099.hp2
HG02486.hp1
HG02615.hp1
others(1): Show 
HG01099.hp2
HG02486.hp1
HG02615.hp1
HG02809.hp1
 intron_variant MODIFIER c.1892+7103A>G
c.1892+7103A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36889757
chr21:36889845 G
G
 A
A
 8 a0001c0001t0001g0024
a0001c0001t0001g0036
a0001c0001t0001g0062
others(5): Show 
a0001c0001t0001g0024
a0001c0001t0001g0036
a0001c0001t0001g0062
a0001c0001t0001g0068
a0001c0001t0004g0014
a0001c0001t0006g0019
a0001c0001t0094g0031
a0001c0001t0096g0025
 8 HG00438.hp1
HG01081.hp1
HG01257.hp1
others(5): Show 
HG00438.hp1
HG01081.hp1
HG01257.hp1
HG01346.hp2
HG01975.hp2
HG01978.hp2
NA18941.hp1
NA19009.hp1
 intron_variant MODIFIER c.1892+7015C>T
c.1892+7015C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36889845
chr21:36889862 A
A
 G
G
 4 a0001c0001t0004g0045
a0001c0001t0005g0135
a0001c0001t0029g0136
others(1): Show 
a0001c0001t0004g0045
a0001c0001t0005g0135
a0001c0001t0029g0136
a0001c0001t0093g0133
 4 HG01099.hp2
HG02486.hp1
HG02615.hp1
others(1): Show 
HG01099.hp2
HG02486.hp1
HG02615.hp1
HG02809.hp1
 intron_variant MODIFIER c.1892+6998T>C
c.1892+6998T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36889862
chr21:36889960 G
G
 A
A
 3 a0001c0001t0005g0135
a0001c0001t0029g0136
a0001c0001t0093g0133
a0001c0001t0005g0135
a0001c0001t0029g0136
a0001c0001t0093g0133
 3 HG01099.hp2
HG02615.hp1
HG02809.hp1
HG01099.hp2
HG02615.hp1
HG02809.hp1
 intron_variant MODIFIER c.1892+6900C>T
c.1892+6900C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36889960
chr21:36889998 T
T
 C
C
 3 a0001c0001t0006g0132
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0006g0132
a0001c0001t0026g0250
a0001c0001t0026g0251
 3 HG01257.hp2
HG01258.hp1
HG02976.hp1
HG01257.hp2
HG01258.hp1
HG02976.hp1
 intron_variant MODIFIER c.1892+6862A>G
c.1892+6862A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36889998
chr21:36890104 A
A
 G
G
 1 a0001c0001t0013g0223
a0001c0001t0013g0223
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.1892+6756T>C
c.1892+6756T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36890104
chr21:36890148 C
C
 T
T
 65 a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
others(62): Show 
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0004g0138
a0001c0001t0005g0113
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0028g0167
a0001c0001t0030g0257
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0039g0126
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0109g0119
a0001c0003t0111g0137
a0001c0004t0042g0209
a0001c0013t0022g0177
a0006c0016t0001g0116
a0007c0014t0070g0131
a0009c0009t0012g0196
 65 HG00280.hp2
HG00323.hp2
HG00438.hp2
others(62): Show 
HG00280.hp2
HG00323.hp2
HG00438.hp2
HG00735.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01346.hp1
HG01496.hp1
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02300.hp2
HG02523.hp2
HG02572.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp2
HG03540.hp1
HG03669.hp2
HG03704.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG06807.hp2
NA18612.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18959.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18975.hp2
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19030.hp2
NA19068.hp2
NA19074.hp2
NA19240.hp2
 intron_variant MODIFIER c.1892+6712G>A
c.1892+6712G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36890148
chr21:36890172 T
T
 C
C
 6 a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0041g0148
others(3): Show 
a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0041g0148
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0062g0145
 6 HG00639.hp1
HG02280.hp2
HG03139.hp2
others(3): Show 
HG00639.hp1
HG02280.hp2
HG03139.hp2
HG03209.hp2
HG03579.hp2
NA18522.hp1
 intron_variant MODIFIER c.1892+6688A>G
c.1892+6688A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36890172
chr21:36890260 C
C
 T
T
 2 a0002c0002t0018g0153
a0002c0002t0043g0152
a0002c0002t0018g0153
a0002c0002t0043g0152
 2 HG03471.hp1
NA18522.hp2
HG03471.hp1
NA18522.hp2
 intron_variant MODIFIER c.1892+6600G>A
c.1892+6600G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36890260
chr21:36890315 G
G
 A
A
 1 a0005c0011t0033g0139
a0005c0011t0033g0139
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.1892+6545C>T
c.1892+6545C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36890315
chr21:36890622 C
C
 T
T
 1 a0008c0012t0035g0069
a0008c0012t0035g0069
 1 NA18940.hp1
NA18940.hp1
 intron_variant MODIFIER c.1892+6238G>A
c.1892+6238G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36890622
chr21:36890668 A
A
 C
C
 5 a0001c0001t0004g0045
a0001c0001t0005g0135
a0001c0001t0013g0223
others(2): Show 
a0001c0001t0004g0045
a0001c0001t0005g0135
a0001c0001t0013g0223
a0001c0001t0029g0136
a0001c0001t0093g0133
 5 HG01099.hp2
HG02486.hp1
HG02615.hp1
others(2): Show 
HG01099.hp2
HG02486.hp1
HG02615.hp1
HG02809.hp1
HG03098.hp1
 intron_variant MODIFIER c.1892+6192T>G
c.1892+6192T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36890668
chr21:36890715 A
A
 G
G
 155 a0001c0001t0001g0010
a0001c0001t0001g0077
a0001c0001t0001g0120
others(152): Show 
a0001c0001t0001g0010
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0138
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0012g0234
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0030g0257
a0001c0001t0031g0245
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 155 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(152): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00639.hp1
HG00735.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02080.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp2
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.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19074.hp2
NA19084.hp1
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+6145T>C
c.1892+6145T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36890715
chr21:36890773 A
A
 C
C
 1 a0001c0001t0003g0244
a0001c0001t0003g0244
 1 NA18952.hp2
NA18952.hp2
 intron_variant MODIFIER c.1892+6087T>G
c.1892+6087T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36890773
chr21:36890860 G
G
 T
T
 1 a0001c0017t0108g0082
a0001c0017t0108g0082
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.1892+6000C>A
c.1892+6000C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36890860
chr21:36890949 A
A
 T
T
 2 a0001c0001t0022g0187
a0001c0004t0068g0088
a0001c0001t0022g0187
a0001c0004t0068g0088
 2 HG01884.hp1
HG03195.hp2
HG01884.hp1
HG03195.hp2
 intron_variant MODIFIER c.1892+5911T>A
c.1892+5911T>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36890949
chr21:36891196 C
C
 T
T
 3 a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0034g0070
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0034g0070
 3 HG03490.hp1
HG03492.hp1
HG04115.hp1
HG03490.hp1
HG03492.hp1
HG04115.hp1
 intron_variant MODIFIER c.1892+5664G>A
c.1892+5664G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36891196
chr21:36891330 A
A
 C
C
 5 a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
others(2): Show 
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0007t0007g0200
a0001c0007t0012g0207
 5 HG00323.hp1
HG01106.hp1
HG01109.hp2
others(2): Show 
HG00323.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG02257.hp1
 intron_variant MODIFIER c.1892+5530T>G
c.1892+5530T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36891330
chr21:36891386 T
T
 C
C
 1 a0001c0001t0001g0072
a0001c0001t0001g0072
 1 HG01123.hp2
HG01123.hp2
 intron_variant MODIFIER c.1892+5474A>G
c.1892+5474A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36891386
chr21:36891676 T
T
 C
C
 6 a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0041g0148
others(3): Show 
a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0041g0148
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0062g0145
 6 HG00639.hp1
HG02280.hp2
HG03139.hp2
others(3): Show 
HG00639.hp1
HG02280.hp2
HG03139.hp2
HG03209.hp2
HG03579.hp2
NA18522.hp1
 intron_variant MODIFIER c.1892+5184A>G
c.1892+5184A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36891676
chr21:36891751 C
C
 T
T
 73 a0001c0001t0001g0010
a0001c0001t0002g0232
a0001c0001t0002g0237
others(70): Show 
a0001c0001t0001g0010
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0010g0213
a0001c0001t0012g0234
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0029g0051
a0001c0001t0031g0245
a0001c0001t0038g0054
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0073g0246
a0001c0001t0090g0005
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0067g0067
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0008c0012t0035g0069
 73 HG00639.hp1
HG01106.hp2
HG01109.hp1
others(70): Show 
HG00639.hp1
HG01106.hp2
HG01109.hp1
HG01175.hp2
HG01884.hp2
HG01891.hp1
HG01952.hp2
HG02080.hp1
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03710.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18959.hp2
NA18961.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19084.hp1
NA19088.hp1
NA19240.hp1
NA20129.hp1
 intron_variant MODIFIER c.1892+5109G>A
c.1892+5109G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36891751
chr21:36891810 G
G
 A
A
 1 a0001c0004t0042g0209
a0001c0004t0042g0209
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.1892+5050C>T
c.1892+5050C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36891810
chr21:36892112 T
T
 A
A
 5 a0001c0001t0019g0247
a0001c0001t0031g0245
a0001c0001t0073g0246
others(2): Show 
a0001c0001t0019g0247
a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0004t0072g0248
a0002c0002t0025g0149
 5 HG02559.hp1
HG03471.hp2
HG03516.hp1
others(2): Show 
HG02559.hp1
HG03471.hp2
HG03516.hp1
HG06807.hp1
NA19240.hp1
 intron_variant MODIFIER c.1892+4748A>T
c.1892+4748A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36892112
chr21:36892180 T
T
 C
C
 2 a0002c0002t0040g0242
a0002c0002t0064g0243
a0002c0002t0040g0242
a0002c0002t0064g0243
 2 HG02559.hp2
HG03041.hp1
HG02559.hp2
HG03041.hp1
 intron_variant MODIFIER c.1892+4680A>G
c.1892+4680A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36892180
chr21:36892370 G
G
 GA
GA
 6 a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0041g0148
others(3): Show 
a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0041g0148
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0062g0145
 6 HG00639.hp1
HG02280.hp2
HG03139.hp2
others(3): Show 
HG00639.hp1
HG02280.hp2
HG03139.hp2
HG03209.hp2
HG03579.hp2
NA18522.hp1
 intron_variant MODIFIER c.1892+4489_1892+449
others(5): Show 
c.1892+4489_1892+4490insT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36892370
chr21:36892371 T
T
 G
G
 6 a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0041g0148
others(3): Show 
a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0041g0148
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0062g0145
 6 HG00639.hp1
HG02280.hp2
HG03139.hp2
others(3): Show 
HG00639.hp1
HG02280.hp2
HG03139.hp2
HG03209.hp2
HG03579.hp2
NA18522.hp1
 intron_variant MODIFIER c.1892+4489A>C
c.1892+4489A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36892371
chr21:36892410 G
G
 A
A
 8 a0001c0001t0012g0234
a0001c0001t0018g0189
a0001c0001t0024g0191
others(5): Show 
a0001c0001t0012g0234
a0001c0001t0018g0189
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0065g0252
a0001c0001t0106g0253
a0001c0004t0017g0219
a0001c0004t0017g0220
 8 HG01952.hp2
HG02622.hp2
HG02896.hp1
others(5): Show 
HG01952.hp2
HG02622.hp2
HG02896.hp1
HG02897.hp2
HG03041.hp2
HG03098.hp2
HG03225.hp2
HG04204.hp1
 intron_variant MODIFIER c.1892+4450C>T
c.1892+4450C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36892410
chr21:36892412 G
G
 C
C
 1 a0001c0001t0103g0100
a0001c0001t0103g0100
 1 HG00438.hp2
HG00438.hp2
 intron_variant MODIFIER c.1892+4448C>G
c.1892+4448C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36892412
chr21:36892523 C
C
 T
T
 1 a0001c0001t0014g0241
a0001c0001t0014g0241
 1 HG00673.hp2
HG00673.hp2
 intron_variant MODIFIER c.1892+4337G>A
c.1892+4337G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36892523
chr21:36892524 G
G
 A
A
 67 a0001c0001t0001g0011
a0001c0001t0001g0077
a0001c0001t0001g0120
others(64): Show 
a0001c0001t0001g0011
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0004g0138
a0001c0001t0005g0113
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0022g0187
a0001c0001t0028g0167
a0001c0001t0030g0257
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0039g0126
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0109g0119
a0001c0003t0111g0137
a0001c0004t0068g0088
a0001c0013t0022g0177
a0006c0016t0001g0116
a0007c0014t0070g0131
a0009c0009t0012g0196
 67 HG00280.hp2
HG00323.hp2
HG00438.hp2
others(64): Show 
HG00280.hp2
HG00323.hp2
HG00438.hp2
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp2
HG03540.hp1
HG03669.hp2
HG03704.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG06807.hp2
NA18612.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18959.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18975.hp2
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19030.hp2
NA19068.hp2
NA19074.hp2
NA19240.hp2
 intron_variant MODIFIER c.1892+4336C>T
c.1892+4336C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36892524
chr21:36892583 G
G
 A
A
 1 a0001c0001t0084g0075
a0001c0001t0084g0075
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1892+4277C>T
c.1892+4277C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36892583
chr21:36892669 C
C
 T
T
 73 a0001c0001t0001g0010
a0001c0001t0002g0232
a0001c0001t0002g0237
others(70): Show 
a0001c0001t0001g0010
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0010g0213
a0001c0001t0012g0234
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0029g0051
a0001c0001t0031g0245
a0001c0001t0038g0054
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0073g0246
a0001c0001t0090g0005
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0067g0067
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0008c0012t0035g0069
 73 HG00639.hp1
HG01106.hp2
HG01109.hp1
others(70): Show 
HG00639.hp1
HG01106.hp2
HG01109.hp1
HG01175.hp2
HG01884.hp2
HG01891.hp1
HG01952.hp2
HG02080.hp1
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03710.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18959.hp2
NA18961.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19084.hp1
NA19088.hp1
NA19240.hp1
NA20129.hp1
 intron_variant MODIFIER c.1892+4191G>A
c.1892+4191G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36892669
chr21:36892682 A
A
 C
C
 72 a0001c0001t0001g0010
a0001c0001t0002g0232
a0001c0001t0002g0237
others(69): Show 
a0001c0001t0001g0010
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0010g0213
a0001c0001t0012g0234
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0029g0051
a0001c0001t0031g0245
a0001c0001t0038g0054
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0073g0246
a0001c0001t0090g0005
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0067g0067
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0008c0012t0035g0069
 72 HG00639.hp1
HG01106.hp2
HG01109.hp1
others(69): Show 
HG00639.hp1
HG01106.hp2
HG01109.hp1
HG01175.hp2
HG01884.hp2
HG01891.hp1
HG01952.hp2
HG02080.hp1
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03710.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18959.hp2
NA18961.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19084.hp1
NA19088.hp1
NA19240.hp1
NA20129.hp1
 intron_variant MODIFIER c.1892+4178T>G
c.1892+4178T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36892682
chr21:36892682 A
A
 G
G
 1 a0001c0001t0003g0230
a0001c0001t0003g0230
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.1892+4178T>C
c.1892+4178T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36892682
chr21:36892697 G
G
 A
A
 2 a0002c0002t0018g0153
a0002c0002t0043g0152
a0002c0002t0018g0153
a0002c0002t0043g0152
 2 HG03471.hp1
NA18522.hp2
HG03471.hp1
NA18522.hp2
 intron_variant MODIFIER c.1892+4163C>T
c.1892+4163C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36892697
chr21:36892747 A
A
 G
G
 1 a0002c0002t0013g0147
a0002c0002t0013g0147
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.1892+4113T>C
c.1892+4113T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36892747
chr21:36892763 G
G
 A
A
 1 a0003c0005t0092g0134
a0003c0005t0092g0134
 1 HG01175.hp2
HG01175.hp2
 intron_variant MODIFIER c.1892+4097C>T
c.1892+4097C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36892763
chr21:36892816 T
T
 C
C
 4 a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0007t0007g0200
others(1): Show 
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0007t0007g0200
a0001c0007t0012g0207
 4 HG00323.hp1
HG01109.hp2
HG01168.hp1
others(1): Show 
HG00323.hp1
HG01109.hp2
HG01168.hp1
HG02257.hp1
 intron_variant MODIFIER c.1892+4044A>G
c.1892+4044A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36892816
chr21:36892882 G
G
 A
A
 3 a0001c0001t0006g0132
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0006g0132
a0001c0001t0026g0250
a0001c0001t0026g0251
 3 HG01257.hp2
HG01258.hp1
HG02976.hp1
HG01257.hp2
HG01258.hp1
HG02976.hp1
 intron_variant MODIFIER c.1892+3978C>T
c.1892+3978C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36892882
chr21:36893132 G
G
 A
A
 1 a0002c0002t0002g0155
a0002c0002t0002g0155
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.1892+3728C>T
c.1892+3728C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36893132
chr21:36893163 A
A
 C
C
 1 a0001c0004t0004g0046
a0001c0004t0004g0046
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.1892+3697T>G
c.1892+3697T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36893163
chr21:36893168 TC
TC
 T
T
 4 a0001c0001t0004g0045
a0001c0001t0005g0135
a0001c0001t0029g0136
others(1): Show 
a0001c0001t0004g0045
a0001c0001t0005g0135
a0001c0001t0029g0136
a0001c0001t0093g0133
 4 HG01099.hp2
HG02486.hp1
HG02615.hp1
others(1): Show 
HG01099.hp2
HG02486.hp1
HG02615.hp1
HG02809.hp1
 intron_variant MODIFIER c.1892+3691delG
c.1892+3691delG
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36893168
chr21:36893438 T
T
 C
C
 1 a0001c0003t0012g0205
a0001c0003t0012g0205
 1 HG01106.hp1
HG01106.hp1
 intron_variant MODIFIER c.1892+3422A>G
c.1892+3422A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36893438
chr21:36893725 G
G
 A
A
 1 a0001c0018t0004g0060
a0001c0018t0004g0060
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.1892+3135C>T
c.1892+3135C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36893725
chr21:36893770 C
C
 T
T
 3 a0001c0001t0005g0003
a0001c0001t0005g0004
a0002c0002t0002g0155
a0001c0001t0005g0003
a0001c0001t0005g0004
a0002c0002t0002g0155
 3 HG02080.hp2
HG02602.hp1
NA18945.hp1
HG02080.hp2
HG02602.hp1
NA18945.hp1
 intron_variant MODIFIER c.1892+3090G>A
c.1892+3090G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36893770
chr21:36893878 G
G
 C
C
 4 a0001c0001t0019g0247
a0001c0001t0031g0245
a0001c0001t0073g0246
others(1): Show 
a0001c0001t0019g0247
a0001c0001t0031g0245
a0001c0001t0073g0246
a0002c0002t0025g0149
 4 HG02559.hp1
HG03516.hp1
HG06807.hp1
others(1): Show 
HG02559.hp1
HG03516.hp1
HG06807.hp1
NA19240.hp1
 intron_variant MODIFIER c.1892+2982C>G
c.1892+2982C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36893878
chr21:36894198 C
C
 T
T
 1 a0005c0011t0033g0139
a0005c0011t0033g0139
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.1892+2662G>A
c.1892+2662G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36894198
chr21:36894219 C
C
 T
T
 1 a0001c0004t0042g0209
a0001c0004t0042g0209
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.1892+2641G>A
c.1892+2641G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36894219
chr21:36894714 A
A
 G
G
 82 a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
others(79): Show 
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0004g0138
a0001c0001t0005g0113
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0022g0187
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0030g0257
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0111g0137
a0001c0004t0017g0224
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0006c0016t0001g0116
a0007c0014t0070g0131
a0009c0009t0012g0196
 82 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(79): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02300.hp2
HG02486.hp2
HG02523.hp2
HG02572.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02965.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp2
HG03225.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG06807.hp2
NA18612.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18959.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18975.hp2
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19030.hp2
NA19068.hp2
NA19074.hp2
NA19240.hp2
NA20805.hp2
 intron_variant MODIFIER c.1892+2146T>C
c.1892+2146T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36894714
chr21:36894846 G
G
 GT
GT
 140 a0001c0001t0001g0010
a0001c0001t0001g0077
a0001c0001t0001g0120
others(137): Show 
a0001c0001t0001g0010
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0138
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0022g0187
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0030g0257
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 140 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(137): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00639.hp1
HG00735.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02080.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02135.hp2
HG02145.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp2
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18968.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19074.hp2
NA19084.hp1
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+2013dupA
c.1892+2013dupA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36894846
chr21:36894846 G
G
 GTT
GTT
 6 a0001c0001t0010g0229
a0001c0001t0031g0245
a0001c0001t0073g0246
others(3): Show 
a0001c0001t0010g0229
a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0006t0023g0222
a0002c0002t0025g0149
a0002c0002t0048g0144
 6 HG02145.hp1
HG02559.hp1
HG03516.hp1
others(3): Show 
HG02145.hp1
HG02559.hp1
HG03516.hp1
HG03516.hp2
HG06807.hp1
NA18967.hp1
 intron_variant MODIFIER c.1892+2012_1892+201
others(6): Show 
c.1892+2012_1892+2013dupAA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36894846
chr21:36894983 G
G
 A
A
 143 a0001c0001t0001g0010
a0001c0001t0001g0077
a0001c0001t0001g0120
others(140): Show 
a0001c0001t0001g0010
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0138
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0012g0234
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0030g0257
a0001c0001t0031g0245
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0009c0009t0012g0196
 143 HG00280.hp2
HG00323.hp2
HG00438.hp2
others(140): Show 
HG00280.hp2
HG00323.hp2
HG00438.hp2
HG00639.hp1
HG00735.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp2
HG01109.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02080.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp2
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.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19074.hp2
NA19084.hp1
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.1892+1877C>T
c.1892+1877C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36894983
chr21:36895024 TGCTGCCC
others(12): Show 
TGCTGCCCTCTTGGTGACGC
 T
T
 2 a0001c0001t0004g0032
a0001c0001t0013g0223
a0001c0001t0004g0032
a0001c0001t0013g0223
 2 HG01515.hp1
HG03098.hp1
HG01515.hp1
HG03098.hp1
 intron_variant MODIFIER c.1892+1817_1892+183
others(23): Show 
c.1892+1817_1892+1835delGCGTCACCAAGAGGGCAGC
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36895024
chr21:36895193 C
C
 T
T
 60 a0001c0001t0001g0010
a0001c0001t0002g0232
a0001c0001t0002g0237
others(57): Show 
a0001c0001t0001g0010
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0010g0213
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0029g0051
a0001c0001t0031g0245
a0001c0001t0038g0054
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0073g0246
a0001c0001t0090g0005
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0067g0067
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
 60 HG00639.hp1
HG01106.hp2
HG01109.hp1
others(57): Show 
HG00639.hp1
HG01106.hp2
HG01109.hp1
HG01175.hp2
HG01884.hp2
HG01891.hp1
HG02080.hp1
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02559.hp1
HG02602.hp1
HG02622.hp1
HG02723.hp1
HG02723.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03710.hp2
HG04115.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18942.hp1
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18959.hp2
NA18961.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19084.hp1
NA19088.hp1
NA19240.hp1
NA20129.hp1
 intron_variant MODIFIER c.1892+1667G>A
c.1892+1667G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36895193
chr21:36895456 T
T
 C
C
 1 a0001c0001t0020g0121
a0001c0001t0020g0121
 1 NA19057.hp1
NA19057.hp1
 intron_variant MODIFIER c.1892+1404A>G
c.1892+1404A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36895456
chr21:36895512 C
C
 T
T
 66 a0001c0001t0001g0010
a0001c0001t0002g0232
a0001c0001t0002g0237
others(63): Show 
a0001c0001t0001g0010
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0010g0213
a0001c0001t0012g0234
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0029g0051
a0001c0001t0031g0245
a0001c0001t0038g0054
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0073g0246
a0001c0001t0090g0005
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0067g0067
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0043g0152
a0002c0002t0048g0144
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0008c0012t0035g0069
 66 HG01106.hp2
HG01109.hp1
HG01175.hp2
others(63): Show 
HG01106.hp2
HG01109.hp1
HG01175.hp2
HG01884.hp2
HG01891.hp1
HG01952.hp2
HG02080.hp1
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03710.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18959.hp2
NA18961.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19084.hp1
NA19088.hp1
NA19240.hp1
NA20129.hp1
 intron_variant MODIFIER c.1892+1348G>A
c.1892+1348G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36895512
chr21:36895522 C
C
 T
T
 66 a0001c0001t0001g0010
a0001c0001t0002g0232
a0001c0001t0002g0237
others(63): Show 
a0001c0001t0001g0010
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0010g0213
a0001c0001t0012g0234
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0029g0051
a0001c0001t0031g0245
a0001c0001t0038g0054
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0073g0246
a0001c0001t0090g0005
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0067g0067
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0043g0152
a0002c0002t0048g0144
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0008c0012t0035g0069
 66 HG01106.hp2
HG01109.hp1
HG01175.hp2
others(63): Show 
HG01106.hp2
HG01109.hp1
HG01175.hp2
HG01884.hp2
HG01891.hp1
HG01952.hp2
HG02080.hp1
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02622.hp1
HG02622.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03710.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18959.hp2
NA18961.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19084.hp1
NA19088.hp1
NA19240.hp1
NA20129.hp1
 intron_variant MODIFIER c.1892+1338G>A
c.1892+1338G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36895522
chr21:36895733 C
C
 T
T
 3 a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0006g0012
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0006g0012
 3 HG02523.hp1
NA19068.hp1
NA19074.hp1
HG02523.hp1
NA19068.hp1
NA19074.hp1
 intron_variant MODIFIER c.1892+1127G>A
c.1892+1127G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36895733
chr21:36895841 C
C
 T
T
 155 a0001c0001t0001g0010
a0001c0001t0001g0077
a0001c0001t0001g0120
others(152): Show 
a0001c0001t0001g0010
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0138
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0012g0234
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0030g0257
a0001c0001t0031g0245
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 155 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(152): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00639.hp1
HG00735.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02080.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp2
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.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19074.hp2
NA19084.hp1
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+1019G>A
c.1892+1019G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36895841
chr21:36896068 G
G
 A
A
 8 a0001c0001t0012g0234
a0001c0001t0018g0189
a0001c0001t0024g0191
others(5): Show 
a0001c0001t0012g0234
a0001c0001t0018g0189
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0065g0252
a0001c0001t0106g0253
a0001c0004t0017g0219
a0001c0004t0017g0220
 8 HG01952.hp2
HG02622.hp2
HG02896.hp1
others(5): Show 
HG01952.hp2
HG02622.hp2
HG02896.hp1
HG02897.hp2
HG03041.hp2
HG03098.hp2
HG03225.hp2
HG04204.hp1
 intron_variant MODIFIER c.1892+792C>T
c.1892+792C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36896068
chr21:36896170 T
T
 C
C
 160 a0001c0001t0001g0010
a0001c0001t0001g0077
a0001c0001t0001g0120
others(157): Show 
a0001c0001t0001g0010
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0257
a0001c0001t0031g0245
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0093g0133
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 160 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(157): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00639.hp1
HG00735.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02080.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
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.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19074.hp2
NA19084.hp1
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1892+690A>G
c.1892+690A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36896170
chr21:36896274 C
C
 G
G
 3 a0002c0002t0013g0147
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0013g0147
a0002c0002t0045g0151
a0002c0002t0046g0150
 3 HG03139.hp2
HG03579.hp2
NA18522.hp1
HG03139.hp2
HG03579.hp2
NA18522.hp1
 intron_variant MODIFIER c.1892+586G>C
c.1892+586G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36896274
chr21:36896357 C
C
 G
G
 19 a0001c0001t0001g0010
a0001c0001t0002g0232
a0001c0001t0002g0237
others(16): Show 
a0001c0001t0001g0010
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0019g0101
a0001c0001t0049g0233
a0001c0001t0057g0225
a0001c0001t0090g0005
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0015t0052g0239
a0008c0012t0035g0069
 19 HG02080.hp1
HG02129.hp1
HG03710.hp2
others(16): Show 
HG02080.hp1
HG02129.hp1
HG03710.hp2
HG04115.hp2
HG04204.hp2
HG04228.hp2
NA18939.hp1
NA18940.hp1
NA18942.hp1
NA18947.hp2
NA18950.hp2
NA18959.hp2
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19030.hp1
NA19084.hp1
 intron_variant MODIFIER c.1892+503G>C
c.1892+503G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36896357
chr21:36896559 G
G
 A
A
 147 a0001c0001t0001g0010
a0001c0001t0001g0077
a0001c0001t0001g0120
others(144): Show 
a0001c0001t0001g0010
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0012g0234
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0257
a0001c0001t0031g0245
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0093g0133
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0009c0009t0012g0196
 147 HG00280.hp2
HG00323.hp2
HG00438.hp2
others(144): Show 
HG00280.hp2
HG00323.hp2
HG00438.hp2
HG00639.hp1
HG00735.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02080.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
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.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19074.hp2
NA19084.hp1
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
 intron_variant MODIFIER c.1892+301C>T
c.1892+301C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36896559
chr21:36896702 C
C
 T
T
 4 a0001c0001t0019g0247
a0001c0001t0031g0245
a0001c0001t0073g0246
others(1): Show 
a0001c0001t0019g0247
a0001c0001t0031g0245
a0001c0001t0073g0246
a0002c0002t0025g0149
 4 HG02559.hp1
HG03516.hp1
HG06807.hp1
others(1): Show 
HG02559.hp1
HG03516.hp1
HG06807.hp1
NA19240.hp1
 intron_variant MODIFIER c.1892+158G>A
c.1892+158G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36896702
chr21:36896792 A
A
 G
G
 1 a0001c0001t0018g0189
a0001c0001t0018g0189
 1 HG01952.hp2
HG01952.hp2
 intron_variant MODIFIER c.1892+68T>C
c.1892+68T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 6/10 chr21 36896792
chr21:36897280 C
C
 T
T
 5 a0001c0001t0010g0249
a0001c0001t0028g0192
a0001c0001t0044g0161
others(2): Show 
a0001c0001t0010g0249
a0001c0001t0028g0192
a0001c0001t0044g0161
a0001c0004t0017g0224
a0001c0004t0072g0248
 5 HG02486.hp2
HG02647.hp2
HG02922.hp1
others(2): Show 
HG02486.hp2
HG02647.hp2
HG02922.hp1
HG03139.hp1
HG03471.hp2
 intron_variant MODIFIER c.1621-149G>A
c.1621-149G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36897280
chr21:36897482 C
C
 T
T
 1 a0001c0001t0082g0112
a0001c0001t0082g0112
 1 HG01981.hp1
HG01981.hp1
 intron_variant MODIFIER c.1621-351G>A
c.1621-351G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36897482
chr21:36897626 G
G
 A
A
 2 a0002c0002t0040g0242
a0002c0002t0064g0243
a0002c0002t0040g0242
a0002c0002t0064g0243
 2 HG02559.hp2
HG03041.hp1
HG02559.hp2
HG03041.hp1
 intron_variant MODIFIER c.1621-495C>T
c.1621-495C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36897626
chr21:36897729 A
A
 T
T
 3 a0002c0002t0013g0147
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0013g0147
a0002c0002t0045g0151
a0002c0002t0046g0150
 3 HG03139.hp2
HG03579.hp2
NA18522.hp1
HG03139.hp2
HG03579.hp2
NA18522.hp1
 intron_variant MODIFIER c.1621-598T>A
c.1621-598T>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36897729
chr21:36897823 G
G
 A
A
 1 a0001c0001t0003g0184
a0001c0001t0003g0184
 1 NA19068.hp2
NA19068.hp2
 intron_variant MODIFIER c.1621-692C>T
c.1621-692C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36897823
chr21:36898043 A
A
 T
T
 83 a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
others(80): Show 
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0004g0138
a0001c0001t0005g0113
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0022g0187
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0030g0257
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0111g0137
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0006c0016t0001g0116
a0007c0014t0070g0131
a0009c0009t0012g0196
 83 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(80): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00735.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02300.hp2
HG02486.hp2
HG02523.hp2
HG02572.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02965.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp2
HG03225.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG06807.hp2
NA18612.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18959.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18975.hp2
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19030.hp2
NA19068.hp2
NA19074.hp2
NA19240.hp2
NA20805.hp2
 intron_variant MODIFIER c.1621-912T>A
c.1621-912T>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36898043
chr21:36898112 T
T
 A
A
 1 a0001c0001t0034g0030
a0001c0001t0034g0030
 1 HG00738.hp2
HG00738.hp2
 intron_variant MODIFIER c.1621-981A>T
c.1621-981A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36898112
chr21:36898168 G
G
 A
A
 21 a0001c0001t0005g0052
a0001c0001t0010g0213
a0001c0001t0015g0141
others(18): Show 
a0001c0001t0005g0052
a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0029g0051
a0001c0001t0038g0054
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0004t0067g0067
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
 21 HG01109.hp1
HG01884.hp2
HG01891.hp1
others(18): Show 
HG01109.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp2
HG02145.hp1
HG02280.hp1
HG02723.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG03195.hp1
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03540.hp2
HG03579.hp1
NA19043.hp1
NA19043.hp2
NA20129.hp1
 intron_variant MODIFIER c.1621-1037C>T
c.1621-1037C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36898168
chr21:36898275 G
G
 A
A
 1 a0001c0001t0013g0223
a0001c0001t0013g0223
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.1621-1144C>T
c.1621-1144C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36898275
chr21:36898377 C
C
 T
T
 2 a0001c0001t0107g0050
a0001c0004t0067g0067
a0001c0001t0107g0050
a0001c0004t0067g0067
 2 HG01891.hp1
HG03453.hp2
HG01891.hp1
HG03453.hp2
 intron_variant MODIFIER c.1621-1246G>A
c.1621-1246G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36898377
chr21:36898446 C
C
 CA
CA
 7 a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0006g0012
others(4): Show 
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0006g0012
a0001c0001t0016g0047
a0001c0001t0036g0123
a0001c0001t0038g0102
a0001c0008t0008g0001
 7 HG02523.hp1
HG02572.hp2
HG03710.hp1
others(4): Show 
HG02523.hp1
HG02572.hp2
HG03710.hp1
HG04228.hp1
NA18952.hp1
NA19068.hp1
NA19074.hp1
 intron_variant MODIFIER c.1621-1316dupT
c.1621-1316dupT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36898446
chr21:36898446 C
C
 CAAA
CAAA
 61 a0001c0001t0001g0010
a0001c0001t0002g0232
a0001c0001t0002g0237
others(58): Show 
a0001c0001t0001g0010
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0010g0213
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0031g0245
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0073g0246
a0001c0001t0090g0005
a0001c0001t0093g0133
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0067g0067
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
 61 HG00639.hp1
HG01099.hp2
HG01106.hp2
others(58): Show 
HG00639.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01175.hp2
HG01884.hp2
HG01891.hp1
HG02080.hp1
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02559.hp1
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02965.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03710.hp2
HG04115.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18942.hp1
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18959.hp2
NA18961.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19084.hp1
NA19088.hp1
NA19240.hp1
NA20129.hp1
 intron_variant MODIFIER c.1621-1318_1621-131
others(7): Show 
c.1621-1318_1621-1316dupTTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36898446
chr21:36898446 C
C
 CAAAA
CAAAA
 8 a0001c0001t0003g0230
a0001c0001t0006g0132
a0001c0001t0026g0250
others(5): Show 
a0001c0001t0003g0230
a0001c0001t0006g0132
a0001c0001t0026g0250
a0001c0001t0026g0251
a0002c0002t0040g0242
a0002c0002t0064g0243
a0005c0011t0033g0139
a0008c0012t0035g0069
 8 HG01257.hp2
HG01258.hp1
HG02559.hp2
others(5): Show 
HG01257.hp2
HG01258.hp1
HG02559.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG04228.hp2
NA18940.hp1
 intron_variant MODIFIER c.1621-1319_1621-131
others(8): Show 
c.1621-1319_1621-1316dupTTTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36898446
chr21:36898446 C
C
 CAAAAA
CAAAAA
 19 a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0004g0045
others(16): Show 
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0004g0045
a0001c0001t0007g0162
a0001c0001t0007g0194
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0249
a0001c0001t0028g0192
a0001c0001t0044g0161
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0004t0017g0224
a0001c0004t0072g0248
a0001c0007t0007g0200
a0001c0007t0012g0207
 19 HG00323.hp1
HG00323.hp2
HG01106.hp1
others(16): Show 
HG00323.hp1
HG00323.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG02257.hp1
HG02486.hp1
HG02486.hp2
HG02647.hp2
HG02922.hp1
HG03139.hp1
HG03471.hp2
HG03669.hp1
HG03831.hp2
NA18968.hp2
NA20805.hp2
 intron_variant MODIFIER c.1621-1320_1621-131
others(9): Show 
c.1621-1320_1621-1316dupTTTTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36898446
chr21:36898446 C
C
 CAAAAAA
CAAAAAA
 62 a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
others(59): Show 
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0005g0113
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0170
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0013g0223
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0022g0187
a0001c0001t0028g0167
a0001c0001t0030g0257
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0039g0126
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0109g0119
a0001c0003t0111g0137
a0001c0004t0042g0209
a0001c0004t0068g0088
a0001c0013t0022g0177
a0006c0016t0001g0116
a0009c0009t0012g0196
 62 HG00280.hp2
HG00438.hp2
HG00735.hp1
others(59): Show 
HG00280.hp2
HG00438.hp2
HG00735.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01975.hp1
HG01981.hp1
HG02040.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02300.hp2
HG02523.hp2
HG02572.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp2
HG03540.hp1
HG03669.hp2
HG03704.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG06807.hp2
NA18612.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18959.hp1
NA18970.hp2
NA18975.hp2
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19030.hp2
NA19068.hp2
NA19074.hp2
NA19240.hp2
 intron_variant MODIFIER c.1621-1321_1621-131
others(10): Show 
c.1621-1321_1621-1316dupTTTTTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36898446
chr21:36898446 C
C
 CAAAAAAA
CAAAAAAA
 8 a0001c0001t0002g0165
a0001c0001t0004g0138
a0001c0001t0010g0229
others(5): Show 
a0001c0001t0002g0165
a0001c0001t0004g0138
a0001c0001t0010g0229
a0001c0001t0012g0234
a0001c0001t0018g0189
a0001c0001t0065g0252
a0001c0001t0106g0253
a0007c0014t0070g0131
 8 HG00741.hp1
HG01175.hp1
HG01952.hp2
others(5): Show 
HG00741.hp1
HG01175.hp1
HG01952.hp2
HG01978.hp1
HG02622.hp2
HG03041.hp2
HG04204.hp1
NA18967.hp1
 intron_variant MODIFIER c.1621-1322_1621-131
others(11): Show 
c.1621-1322_1621-1316dupTTTTTTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36898446
chr21:36898526 G
G
 A
A
 1 a0002c0002t0015g0142
a0002c0002t0015g0142
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.1621-1395C>T
c.1621-1395C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36898526
chr21:36898645 G
G
 T
T
 1 a0001c0001t0090g0005
a0001c0001t0090g0005
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.1621-1514C>A
c.1621-1514C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36898645
chr21:36898736 G
G
 C
C
 1 a0001c0001t0001g0017
a0001c0001t0001g0017
 1 NA19068.hp1
NA19068.hp1
 intron_variant MODIFIER c.1621-1605C>G
c.1621-1605C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36898736
chr21:36898752 T
T
 C
C
 1 a0001c0004t0042g0209
a0001c0004t0042g0209
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.1621-1621A>G
c.1621-1621A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36898752
chr21:36898785 G
G
 A
A
 1 a0001c0001t0004g0058
a0001c0001t0004g0058
 1 HG01192.hp2
HG01192.hp2
 intron_variant MODIFIER c.1621-1654C>T
c.1621-1654C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36898785
chr21:36899089 T
T
 C
C
 10 a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
others(7): Show 
a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
 10 HG02280.hp1
HG02723.hp2
HG02886.hp1
others(7): Show 
HG02280.hp1
HG02723.hp2
HG02886.hp1
HG02895.hp2
HG02965.hp1
HG03209.hp1
HG03453.hp1
HG03540.hp2
HG03579.hp1
NA20129.hp1
 intron_variant MODIFIER c.1621-1958A>G
c.1621-1958A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36899089
chr21:36899124 G
G
 A
A
 64 a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
others(61): Show 
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0004g0138
a0001c0001t0005g0113
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0028g0167
a0001c0001t0030g0257
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0039g0126
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0109g0119
a0001c0003t0111g0137
a0001c0013t0022g0177
a0006c0016t0001g0116
a0007c0014t0070g0131
a0009c0009t0012g0196
 64 HG00280.hp2
HG00323.hp2
HG00438.hp2
others(61): Show 
HG00280.hp2
HG00323.hp2
HG00438.hp2
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01346.hp1
HG01496.hp1
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02300.hp2
HG02523.hp2
HG02572.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp2
HG03540.hp1
HG03669.hp2
HG03704.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG06807.hp2
NA18612.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18959.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18975.hp2
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19030.hp2
NA19068.hp2
NA19074.hp2
NA19240.hp2
 intron_variant MODIFIER c.1621-1993C>T
c.1621-1993C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36899124
chr21:36899302 T
T
 C
C
 2 a0001c0001t0022g0187
a0001c0004t0068g0088
a0001c0001t0022g0187
a0001c0004t0068g0088
 2 HG01884.hp1
HG03195.hp2
HG01884.hp1
HG03195.hp2
 intron_variant MODIFIER c.1621-2171A>G
c.1621-2171A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36899302
chr21:36899316 T
T
 C
C
 2 a0002c0002t0040g0242
a0002c0002t0064g0243
a0002c0002t0040g0242
a0002c0002t0064g0243
 2 HG02559.hp2
HG03041.hp1
HG02559.hp2
HG03041.hp1
 intron_variant MODIFIER c.1621-2185A>G
c.1621-2185A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36899316
chr21:36899345 C
C
 T
T
 2 a0002c0002t0040g0242
a0002c0002t0064g0243
a0002c0002t0040g0242
a0002c0002t0064g0243
 2 HG02559.hp2
HG03041.hp1
HG02559.hp2
HG03041.hp1
 intron_variant MODIFIER c.1621-2214G>A
c.1621-2214G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36899345
chr21:36899366 G
G
 A
A
 1 a0001c0001t0094g0031
a0001c0001t0094g0031
 1 NA18941.hp1
NA18941.hp1
 intron_variant MODIFIER c.1621-2235C>T
c.1621-2235C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36899366
chr21:36899461 T
T
 A
A
 1 a0001c0004t0042g0209
a0001c0004t0042g0209
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.1621-2330A>T
c.1621-2330A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36899461
chr21:36899462 A
A
 G
G
 1 a0001c0001t0001g0074
a0001c0001t0001g0074
 1 HG01169.hp2
HG01169.hp2
 intron_variant MODIFIER c.1621-2331T>C
c.1621-2331T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36899462
chr21:36899580 C
C
 T
T
 4 a0001c0001t0004g0045
a0001c0001t0005g0135
a0001c0001t0029g0136
others(1): Show 
a0001c0001t0004g0045
a0001c0001t0005g0135
a0001c0001t0029g0136
a0001c0001t0093g0133
 4 HG01099.hp2
HG02486.hp1
HG02615.hp1
others(1): Show 
HG01099.hp2
HG02486.hp1
HG02615.hp1
HG02809.hp1
 intron_variant MODIFIER c.1621-2449G>A
c.1621-2449G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36899580
chr21:36899619 T
T
 C
C
 7 a0001c0001t0018g0189
a0001c0001t0024g0191
a0001c0001t0024g0211
others(4): Show 
a0001c0001t0018g0189
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0065g0252
a0001c0001t0106g0253
a0001c0004t0017g0219
a0001c0004t0017g0220
 7 HG01952.hp2
HG02622.hp2
HG02896.hp1
others(4): Show 
HG01952.hp2
HG02622.hp2
HG02896.hp1
HG02897.hp2
HG03041.hp2
HG03098.hp2
HG03225.hp2
 intron_variant MODIFIER c.1621-2488A>G
c.1621-2488A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36899619
chr21:36899794 A
A
 G
G
 2 a0001c0001t0001g0040
a0001c0001t0001g0071
a0001c0001t0001g0040
a0001c0001t0001g0071
 2 HG01361.hp1
HG01952.hp1
HG01361.hp1
HG01952.hp1
 intron_variant MODIFIER c.1621-2663T>C
c.1621-2663T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36899794
chr21:36899805 G
G
 A
A
 1 a0003c0005t0092g0134
a0003c0005t0092g0134
 1 HG01175.hp2
HG01175.hp2
 intron_variant MODIFIER c.1621-2674C>T
c.1621-2674C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36899805
chr21:36899909 G
G
 C
C
 1 a0001c0004t0042g0209
a0001c0004t0042g0209
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.1621-2778C>G
c.1621-2778C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36899909
chr21:36899969 G
G
 A
A
 9 a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0013g0240
others(6): Show 
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0013g0240
a0001c0001t0057g0225
a0001c0001t0090g0005
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0015t0052g0239
 9 HG02129.hp1
HG03710.hp2
HG04204.hp2
others(6): Show 
HG02129.hp1
HG03710.hp2
HG04204.hp2
NA18939.hp1
NA18947.hp2
NA18950.hp2
NA18971.hp2
NA18979.hp1
NA18984.hp1
 intron_variant MODIFIER c.1621-2838C>T
c.1621-2838C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36899969
chr21:36900367 T
T
 A
A
 3 a0001c0001t0006g0132
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0006g0132
a0001c0001t0026g0250
a0001c0001t0026g0251
 3 HG01257.hp2
HG01258.hp1
HG02976.hp1
HG01257.hp2
HG01258.hp1
HG02976.hp1
 intron_variant MODIFIER c.1621-3236A>T
c.1621-3236A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36900367
chr21:36900524 C
C
 T
T
 1 a0005c0011t0033g0139
a0005c0011t0033g0139
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.1621-3393G>A
c.1621-3393G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36900524
chr21:36900576 T
T
 G
G
 10 a0001c0001t0004g0045
a0001c0001t0005g0135
a0001c0001t0029g0136
others(7): Show 
a0001c0001t0004g0045
a0001c0001t0005g0135
a0001c0001t0029g0136
a0001c0001t0093g0133
a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0041g0148
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0062g0145
 10 HG00639.hp1
HG01099.hp2
HG02280.hp2
others(7): Show 
HG00639.hp1
HG01099.hp2
HG02280.hp2
HG02486.hp1
HG02615.hp1
HG02809.hp1
HG03139.hp2
HG03209.hp2
HG03579.hp2
NA18522.hp1
 intron_variant MODIFIER c.1621-3445A>C
c.1621-3445A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36900576
chr21:36900734 T
T
 C
C
 87 a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
others(84): Show 
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0113
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0022g0187
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0136
a0001c0001t0030g0257
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0093g0133
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0111g0137
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0006c0016t0001g0116
a0007c0014t0070g0131
a0009c0009t0012g0196
 87 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(84): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00735.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02965.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp2
HG03225.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG06807.hp2
NA18612.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18959.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18975.hp2
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19030.hp2
NA19068.hp2
NA19074.hp2
NA19240.hp2
NA20805.hp2
 intron_variant MODIFIER c.1621-3603A>G
c.1621-3603A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36900734
chr21:36900762 A
A
 G
G
 4 a0001c0001t0019g0247
a0001c0001t0031g0245
a0001c0001t0073g0246
others(1): Show 
a0001c0001t0019g0247
a0001c0001t0031g0245
a0001c0001t0073g0246
a0002c0002t0025g0149
 4 HG02559.hp1
HG03516.hp1
HG06807.hp1
others(1): Show 
HG02559.hp1
HG03516.hp1
HG06807.hp1
NA19240.hp1
 intron_variant MODIFIER c.1621-3631T>C
c.1621-3631T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36900762
chr21:36900899 A
A
 G
G
 3 a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0006g0012
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0006g0012
 3 HG02523.hp1
NA19068.hp1
NA19074.hp1
HG02523.hp1
NA19068.hp1
NA19074.hp1
 intron_variant MODIFIER c.1621-3768T>C
c.1621-3768T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36900899
chr21:36900959 T
T
 G
G
 1 a0005c0011t0033g0139
a0005c0011t0033g0139
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.1621-3828A>C
c.1621-3828A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36900959
chr21:36900975 C
C
 T
T
 1 a0001c0001t0004g0058
a0001c0001t0004g0058
 1 HG01192.hp2
HG01192.hp2
 intron_variant MODIFIER c.1621-3844G>A
c.1621-3844G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36900975
chr21:36901017 T
T
 C
C
 1 a0001c0001t0002g0193
a0001c0001t0002g0193
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.1621-3886A>G
c.1621-3886A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36901017
chr21:36901020 G
G
 C
C
 1 a0001c0001t0031g0057
a0001c0001t0031g0057
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.1621-3889C>G
c.1621-3889C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36901020
chr21:36901120 G
G
 C
C
 25 a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
others(22): Show 
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0009g0178
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0018g0176
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0061g0163
a0001c0013t0022g0177
 25 HG00280.hp2
HG00323.hp2
HG01070.hp2
others(22): Show 
HG00280.hp2
HG00323.hp2
HG01070.hp2
HG01071.hp2
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG01496.hp1
HG01978.hp1
HG02300.hp2
HG02683.hp2
HG02886.hp2
HG02896.hp2
HG03130.hp1
HG03490.hp2
HG03492.hp2
HG03669.hp2
HG03704.hp2
HG03831.hp1
HG03927.hp2
NA18944.hp1
NA18967.hp1
NA18968.hp2
NA19004.hp2
NA19068.hp2
 intron_variant MODIFIER c.1621-3989C>G
c.1621-3989C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36901120
chr21:36901173 G
G
 A
A
 1 a0001c0001t0031g0057
a0001c0001t0031g0057
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.1621-4042C>T
c.1621-4042C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36901173
chr21:36901242 C
C
 CA
CA
 10 a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
others(7): Show 
a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
 10 HG02280.hp1
HG02723.hp2
HG02886.hp1
others(7): Show 
HG02280.hp1
HG02723.hp2
HG02886.hp1
HG02895.hp2
HG02965.hp1
HG03209.hp1
HG03453.hp1
HG03540.hp2
HG03579.hp1
NA20129.hp1
 intron_variant MODIFIER c.1621-4112dupT
c.1621-4112dupT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36901242
chr21:36901353 G
G
 C
C
 1 a0001c0004t0042g0209
a0001c0004t0042g0209
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.1621-4222C>G
c.1621-4222C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36901353
chr21:36901369 T
T
 C
C
 6 a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0041g0148
others(3): Show 
a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0041g0148
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0062g0145
 6 HG00639.hp1
HG02280.hp2
HG03139.hp2
others(3): Show 
HG00639.hp1
HG02280.hp2
HG03139.hp2
HG03209.hp2
HG03579.hp2
NA18522.hp1
 intron_variant MODIFIER c.1621-4238A>G
c.1621-4238A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36901369
chr21:36901417 T
T
 G
G
 1 a0001c0001t0028g0192
a0001c0001t0028g0192
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.1621-4286A>C
c.1621-4286A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36901417
chr21:36901539 C
C
 T
T
 9 a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0018g0189
others(6): Show 
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0018g0189
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0065g0252
a0001c0001t0106g0253
a0001c0004t0017g0219
a0001c0004t0017g0220
 9 HG01952.hp2
HG02622.hp2
HG02896.hp1
others(6): Show 
HG01952.hp2
HG02622.hp2
HG02896.hp1
HG02897.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG04204.hp1
 intron_variant MODIFIER c.1621-4408G>A
c.1621-4408G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36901539
chr21:36901555 C
C
 A
A
 1 a0006c0016t0001g0116
a0006c0016t0001g0116
 1 NA18989.hp1
NA18989.hp1
 intron_variant MODIFIER c.1621-4424G>T
c.1621-4424G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36901555
chr21:36901737 G
G
 A
A
 27 a0001c0001t0001g0010
a0001c0001t0002g0232
a0001c0001t0002g0237
others(24): Show 
a0001c0001t0001g0010
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0019g0101
a0001c0001t0049g0233
a0001c0001t0057g0225
a0001c0001t0066g0059
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0015t0052g0239
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0015g0142
a0002c0002t0027g0157
a0002c0002t0048g0144
a0003c0005t0092g0134
 27 HG01106.hp2
HG01175.hp2
HG02080.hp1
others(24): Show 
HG01106.hp2
HG01175.hp2
HG02080.hp1
HG02129.hp1
HG02135.hp2
HG02602.hp1
HG02622.hp1
HG02723.hp1
HG03516.hp2
HG03710.hp2
HG04115.hp2
HG04228.hp2
NA18939.hp1
NA18942.hp1
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18959.hp2
NA18961.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19030.hp1
NA19084.hp1
NA19088.hp1
 intron_variant MODIFIER c.1621-4606C>T
c.1621-4606C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36901737
chr21:36901977 G
G
 C
C
 2 a0002c0002t0040g0242
a0002c0002t0064g0243
a0002c0002t0040g0242
a0002c0002t0064g0243
 2 HG02559.hp2
HG03041.hp1
HG02559.hp2
HG03041.hp1
 intron_variant MODIFIER c.1621-4846C>G
c.1621-4846C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36901977
chr21:36902060 A
A
 C
C
 1 a0001c0001t0006g0029
a0001c0001t0006g0029
 1 HG03239.hp2
HG03239.hp2
 intron_variant MODIFIER c.1621-4929T>G
c.1621-4929T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36902060
chr21:36902238 G
G
 A
A
 3 a0001c0001t0006g0132
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0006g0132
a0001c0001t0026g0250
a0001c0001t0026g0251
 3 HG01257.hp2
HG01258.hp1
HG02976.hp1
HG01257.hp2
HG01258.hp1
HG02976.hp1
 intron_variant MODIFIER c.1621-5107C>T
c.1621-5107C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36902238
chr21:36902246 G
G
 A
A
 5 a0001c0001t0019g0247
a0001c0001t0031g0245
a0001c0001t0073g0246
others(2): Show 
a0001c0001t0019g0247
a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0004t0072g0248
a0002c0002t0025g0149
 5 HG02559.hp1
HG03471.hp2
HG03516.hp1
others(2): Show 
HG02559.hp1
HG03471.hp2
HG03516.hp1
HG06807.hp1
NA19240.hp1
 intron_variant MODIFIER c.1621-5115C>T
c.1621-5115C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36902246
chr21:36902352 G
G
 A
A
 3 a0001c0001t0006g0132
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0006g0132
a0001c0001t0026g0250
a0001c0001t0026g0251
 3 HG01257.hp2
HG01258.hp1
HG02976.hp1
HG01257.hp2
HG01258.hp1
HG02976.hp1
 intron_variant MODIFIER c.1621-5221C>T
c.1621-5221C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36902352
chr21:36902387 G
G
 A
A
 1 a0001c0001t0013g0223
a0001c0001t0013g0223
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.1621-5256C>T
c.1621-5256C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36902387
chr21:36902405 T
T
 C
C
 82 a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
others(79): Show 
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0004g0138
a0001c0001t0005g0113
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0022g0187
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0030g0257
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0111g0137
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0068g0088
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0006c0016t0001g0116
a0007c0014t0070g0131
a0009c0009t0012g0196
 82 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(79): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00735.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02300.hp2
HG02486.hp2
HG02523.hp2
HG02572.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02965.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG06807.hp2
NA18612.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18959.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18975.hp2
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19030.hp2
NA19068.hp2
NA19074.hp2
NA19240.hp2
NA20805.hp2
 intron_variant MODIFIER c.1621-5274A>G
c.1621-5274A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36902405
chr21:36902416 G
G
 C
C
 1 a0002c0002t0048g0144
a0002c0002t0048g0144
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.1621-5285C>G
c.1621-5285C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36902416
chr21:36902489 G
G
 A
A
 10 a0001c0001t0005g0052
a0001c0001t0019g0061
a0001c0001t0029g0051
others(7): Show 
a0001c0001t0005g0052
a0001c0001t0019g0061
a0001c0001t0029g0051
a0001c0001t0038g0054
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0004t0067g0067
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
 10 HG01109.hp1
HG01884.hp2
HG01891.hp1
others(7): Show 
HG01109.hp1
HG01884.hp2
HG01891.hp1
HG02145.hp1
HG02818.hp2
HG02922.hp2
HG03195.hp1
HG03453.hp2
NA19043.hp1
NA19043.hp2
 intron_variant MODIFIER c.1621-5358C>T
c.1621-5358C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36902489
chr21:36902514 T
T
 C
C
 1 a0007c0014t0070g0131
a0007c0014t0070g0131
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.1621-5383A>G
c.1621-5383A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36902514
chr21:36902532 G
G
 C
C
 1 a0001c0018t0004g0060
a0001c0018t0004g0060
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.1621-5401C>G
c.1621-5401C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36902532
chr21:36902611 C
C
 T
T
 2 a0001c0001t0022g0187
a0001c0004t0068g0088
a0001c0001t0022g0187
a0001c0004t0068g0088
 2 HG01884.hp1
HG03195.hp2
HG01884.hp1
HG03195.hp2
 intron_variant MODIFIER c.1621-5480G>A
c.1621-5480G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36902611
chr21:36902613 A
A
 G
G
 11 a0001c0001t0002g0174
a0001c0001t0007g0194
a0001c0001t0009g0201
others(8): Show 
a0001c0001t0002g0174
a0001c0001t0007g0194
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0007t0007g0200
a0001c0007t0012g0207
 11 HG00323.hp1
HG01106.hp1
HG01109.hp2
others(8): Show 
HG00323.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG02257.hp1
HG03669.hp1
HG03831.hp2
NA20805.hp2
 intron_variant MODIFIER c.1621-5482T>C
c.1621-5482T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36902613
chr21:36902696 G
G
 A
A
 1 a0001c0001t0029g0136
a0001c0001t0029g0136
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.1621-5565C>T
c.1621-5565C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36902696
chr21:36902791 C
C
 G
G
 71 a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
others(68): Show 
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0004g0138
a0001c0001t0005g0113
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0022g0187
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0030g0257
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0109g0119
a0001c0003t0111g0137
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0068g0088
a0001c0013t0022g0177
a0006c0016t0001g0116
a0007c0014t0070g0131
a0009c0009t0012g0196
 71 HG00280.hp2
HG00323.hp2
HG00438.hp2
others(68): Show 
HG00280.hp2
HG00323.hp2
HG00438.hp2
HG00735.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02300.hp2
HG02486.hp2
HG02523.hp2
HG02572.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02965.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp2
HG03540.hp1
HG03669.hp2
HG03704.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG06807.hp2
NA18612.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18959.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18975.hp2
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19030.hp2
NA19068.hp2
NA19074.hp2
NA19240.hp2
 intron_variant MODIFIER c.1621-5660G>C
c.1621-5660G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36902791
chr21:36902894 G
G
 C
C
 2 a0001c0001t0065g0252
a0001c0001t0106g0253
a0001c0001t0065g0252
a0001c0001t0106g0253
 2 HG02622.hp2
HG03041.hp2
HG02622.hp2
HG03041.hp2
 intron_variant MODIFIER c.1621-5763C>G
c.1621-5763C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36902894
chr21:36902987 C
C
 A
A
 7 a0001c0001t0019g0247
a0001c0001t0031g0245
a0001c0001t0073g0246
others(4): Show 
a0001c0001t0019g0247
a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0004t0072g0248
a0002c0002t0018g0153
a0002c0002t0025g0149
a0002c0002t0043g0152
 7 HG02559.hp1
HG03471.hp1
HG03471.hp2
others(4): Show 
HG02559.hp1
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG06807.hp1
NA18522.hp2
NA19240.hp1
 intron_variant MODIFIER c.1621-5856G>T
c.1621-5856G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36902987
chr21:36903046 G
G
 C
C
 1 a0001c0001t0082g0112
a0001c0001t0082g0112
 1 HG01981.hp1
HG01981.hp1
 intron_variant MODIFIER c.1621-5915C>G
c.1621-5915C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36903046
chr21:36903183 G
G
 A
A
 6 a0001c0001t0012g0234
a0001c0001t0018g0189
a0001c0001t0065g0252
others(3): Show 
a0001c0001t0012g0234
a0001c0001t0018g0189
a0001c0001t0065g0252
a0001c0001t0106g0253
a0001c0004t0017g0219
a0001c0004t0017g0220
 6 HG01952.hp2
HG02622.hp2
HG02896.hp1
others(3): Show 
HG01952.hp2
HG02622.hp2
HG02896.hp1
HG02897.hp2
HG03041.hp2
HG04204.hp1
 intron_variant MODIFIER c.1621-6052C>T
c.1621-6052C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36903183
chr21:36903438 T
T
 A
A
 1 a0005c0011t0033g0139
a0005c0011t0033g0139
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.1621-6307A>T
c.1621-6307A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36903438
chr21:36903438 T
T
 C
C
 71 a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
others(68): Show 
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0004g0138
a0001c0001t0005g0113
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0022g0187
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0030g0257
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0109g0119
a0001c0003t0111g0137
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0068g0088
a0001c0013t0022g0177
a0006c0016t0001g0116
a0007c0014t0070g0131
a0009c0009t0012g0196
 71 HG00280.hp2
HG00323.hp2
HG00438.hp2
others(68): Show 
HG00280.hp2
HG00323.hp2
HG00438.hp2
HG00735.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02300.hp2
HG02486.hp2
HG02523.hp2
HG02572.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02965.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp2
HG03540.hp1
HG03669.hp2
HG03704.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG06807.hp2
NA18612.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18959.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18975.hp2
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19030.hp2
NA19068.hp2
NA19074.hp2
NA19240.hp2
 intron_variant MODIFIER c.1621-6307A>G
c.1621-6307A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36903438
chr21:36903593 A
A
 T
T
 1 a0001c0001t0086g0044
a0001c0001t0086g0044
 1 NA18961.hp2
NA18961.hp2
 intron_variant MODIFIER c.1621-6462T>A
c.1621-6462T>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36903593
chr21:36903679 T
T
 C
C
 1 a0001c0001t0013g0223
a0001c0001t0013g0223
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.1621-6548A>G
c.1621-6548A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36903679
chr21:36903725 C
C
 T
T
 1 a0001c0001t0013g0223
a0001c0001t0013g0223
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.1621-6594G>A
c.1621-6594G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36903725
chr21:36903732 G
G
 A
A
 71 a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
others(68): Show 
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0004g0138
a0001c0001t0005g0113
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0022g0187
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0030g0257
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0109g0119
a0001c0003t0111g0137
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0068g0088
a0001c0013t0022g0177
a0006c0016t0001g0116
a0007c0014t0070g0131
a0009c0009t0012g0196
 71 HG00280.hp2
HG00323.hp2
HG00438.hp2
others(68): Show 
HG00280.hp2
HG00323.hp2
HG00438.hp2
HG00735.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02300.hp2
HG02486.hp2
HG02523.hp2
HG02572.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02965.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp2
HG03540.hp1
HG03669.hp2
HG03704.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG06807.hp2
NA18612.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18959.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18975.hp2
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19030.hp2
NA19068.hp2
NA19074.hp2
NA19240.hp2
 intron_variant MODIFIER c.1621-6601C>T
c.1621-6601C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36903732
chr21:36903838 A
A
 C
C
 82 a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
others(79): Show 
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0004g0138
a0001c0001t0005g0113
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0022g0187
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0030g0257
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0111g0137
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0068g0088
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0006c0016t0001g0116
a0007c0014t0070g0131
a0009c0009t0012g0196
 82 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(79): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00735.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02300.hp2
HG02486.hp2
HG02523.hp2
HG02572.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02965.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG06807.hp2
NA18612.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18959.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18975.hp2
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19030.hp2
NA19068.hp2
NA19074.hp2
NA19240.hp2
NA20805.hp2
 intron_variant MODIFIER c.1621-6707T>G
c.1621-6707T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36903838
chr21:36903849 G
G
 A
A
 4 a0001c0001t0010g0249
a0001c0001t0028g0192
a0001c0001t0044g0161
others(1): Show 
a0001c0001t0010g0249
a0001c0001t0028g0192
a0001c0001t0044g0161
a0001c0004t0017g0224
 4 HG02486.hp2
HG02647.hp2
HG02922.hp1
others(1): Show 
HG02486.hp2
HG02647.hp2
HG02922.hp1
HG03139.hp1
 intron_variant MODIFIER c.1621-6718C>T
c.1621-6718C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36903849
chr21:36904087 G
G
 A
A
 1 a0001c0001t0012g0234
a0001c0001t0012g0234
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.1621-6956C>T
c.1621-6956C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36904087
chr21:36904142 G
G
 A
A
 2 a0002c0002t0018g0153
a0002c0002t0043g0152
a0002c0002t0018g0153
a0002c0002t0043g0152
 2 HG03471.hp1
NA18522.hp2
HG03471.hp1
NA18522.hp2
 intron_variant MODIFIER c.1621-7011C>T
c.1621-7011C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36904142
chr21:36904340 T
T
 A
A
 1 a0001c0001t0003g0228
a0001c0001t0003g0228
 1 NA18950.hp2
NA18950.hp2
 intron_variant MODIFIER c.1621-7209A>T
c.1621-7209A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36904340
chr21:36904612 A
A
 G
G
 1 a0001c0001t0036g0123
a0001c0001t0036g0123
 1 NA18952.hp1
NA18952.hp1
 intron_variant MODIFIER c.1621-7481T>C
c.1621-7481T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36904612
chr21:36904644 G
G
 A
A
 4 a0001c0001t0001g0006
a0001c0001t0004g0007
a0001c0001t0083g0013
others(1): Show 
a0001c0001t0001g0006
a0001c0001t0004g0007
a0001c0001t0083g0013
a0001c0001t0101g0008
 4 HG00738.hp1
HG01081.hp2
HG01243.hp2
others(1): Show 
HG00738.hp1
HG01081.hp2
HG01243.hp2
HG01516.hp1
 intron_variant MODIFIER c.1621-7513C>T
c.1621-7513C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36904644
chr21:36904856 A
A
 G
G
 1 a0002c0002t0046g0150
a0002c0002t0046g0150
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.1621-7725T>C
c.1621-7725T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36904856
chr21:36905019 T
T
 C
C
 64 a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
others(61): Show 
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0004g0138
a0001c0001t0005g0113
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0028g0167
a0001c0001t0030g0257
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0039g0126
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0109g0119
a0001c0003t0111g0137
a0001c0013t0022g0177
a0006c0016t0001g0116
a0007c0014t0070g0131
a0009c0009t0012g0196
 64 HG00280.hp2
HG00323.hp2
HG00438.hp2
others(61): Show 
HG00280.hp2
HG00323.hp2
HG00438.hp2
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01346.hp1
HG01496.hp1
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02300.hp2
HG02523.hp2
HG02572.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp2
HG03540.hp1
HG03669.hp2
HG03704.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG06807.hp2
NA18612.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18959.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18975.hp2
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19030.hp2
NA19068.hp2
NA19074.hp2
NA19240.hp2
 intron_variant MODIFIER c.1621-7888A>G
c.1621-7888A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36905019
chr21:36905110 A
A
 G
G
 11 a0001c0001t0002g0174
a0001c0001t0007g0194
a0001c0001t0009g0201
others(8): Show 
a0001c0001t0002g0174
a0001c0001t0007g0194
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0007t0007g0200
a0001c0007t0012g0207
 11 HG00323.hp1
HG01106.hp1
HG01109.hp2
others(8): Show 
HG00323.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG02257.hp1
HG03669.hp1
HG03831.hp2
NA20805.hp2
 intron_variant MODIFIER c.1621-7979T>C
c.1621-7979T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36905110
chr21:36905196 G
G
 A
A
 1 a0001c0001t0037g0083
a0001c0001t0037g0083
 1 HG01515.hp2
HG01515.hp2
 intron_variant MODIFIER c.1621-8065C>T
c.1621-8065C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36905196
chr21:36905250 A
A
 C
C
 8 a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0040g0242
others(5): Show 
a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0062g0145
a0002c0002t0064g0243
 8 HG00639.hp1
HG02280.hp2
HG02559.hp2
others(5): Show 
HG00639.hp1
HG02280.hp2
HG02559.hp2
HG03041.hp1
HG03139.hp2
HG03209.hp2
HG03579.hp2
NA18522.hp1
 intron_variant MODIFIER c.1621-8119T>G
c.1621-8119T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36905250
chr21:36905476 AT
AT
 A
A
 8 a0001c0001t0012g0234
a0001c0001t0018g0189
a0001c0001t0024g0191
others(5): Show 
a0001c0001t0012g0234
a0001c0001t0018g0189
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0065g0252
a0001c0001t0106g0253
a0001c0004t0017g0219
a0001c0004t0017g0220
 8 HG01952.hp2
HG02622.hp2
HG02896.hp1
others(5): Show 
HG01952.hp2
HG02622.hp2
HG02896.hp1
HG02897.hp2
HG03041.hp2
HG03098.hp2
HG03225.hp2
HG04204.hp1
 intron_variant MODIFIER c.1621-8346delA
c.1621-8346delA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36905476
chr21:36905626 C
C
 G
G
 1 a0001c0001t0090g0005
a0001c0001t0090g0005
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.1621-8495G>C
c.1621-8495G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36905626
chr21:36905666 A
A
 G
G
 1 a0001c0001t0090g0005
a0001c0001t0090g0005
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.1621-8535T>C
c.1621-8535T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36905666
chr21:36905844 G
G
 C
C
 4 a0001c0001t0004g0045
a0001c0001t0005g0135
a0001c0001t0029g0136
others(1): Show 
a0001c0001t0004g0045
a0001c0001t0005g0135
a0001c0001t0029g0136
a0001c0001t0093g0133
 4 HG01099.hp2
HG02486.hp1
HG02615.hp1
others(1): Show 
HG01099.hp2
HG02486.hp1
HG02615.hp1
HG02809.hp1
 intron_variant MODIFIER c.1621-8713C>G
c.1621-8713C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36905844
chr21:36905858 C
C
 T
T
 2 a0001c0001t0022g0187
a0001c0001t0032g0081
a0001c0001t0022g0187
a0001c0001t0032g0081
 2 HG01884.hp1
HG02257.hp2
HG01884.hp1
HG02257.hp2
 intron_variant MODIFIER c.1621-8727G>A
c.1621-8727G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36905858
chr21:36905888 C
C
 T
T
 4 a0001c0001t0004g0045
a0001c0001t0005g0135
a0001c0001t0029g0136
others(1): Show 
a0001c0001t0004g0045
a0001c0001t0005g0135
a0001c0001t0029g0136
a0001c0001t0093g0133
 4 HG01099.hp2
HG02486.hp1
HG02615.hp1
others(1): Show 
HG01099.hp2
HG02486.hp1
HG02615.hp1
HG02809.hp1
 intron_variant MODIFIER c.1621-8757G>A
c.1621-8757G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36905888
chr21:36906049 C
C
 CA
CA
 54 a0001c0001t0001g0010
a0001c0001t0001g0077
a0001c0001t0001g0120
others(51): Show 
a0001c0001t0001g0010
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0005g0056
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0006g0096
a0001c0001t0007g0227
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0013g0223
a0001c0001t0013g0240
a0001c0001t0014g0181
a0001c0001t0016g0106
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0028g0192
a0001c0001t0031g0245
a0001c0001t0035g0097
a0001c0001t0044g0161
a0001c0001t0057g0225
a0001c0001t0066g0059
a0001c0001t0073g0246
a0001c0001t0082g0112
a0001c0001t0088g0105
a0001c0001t0090g0005
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0072g0248
a0001c0006t0023g0222
a0001c0015t0052g0239
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0003c0005t0092g0134
 54 HG00639.hp1
HG00735.hp1
HG01106.hp2
others(51): Show 
HG00639.hp1
HG00735.hp1
HG01106.hp2
HG01169.hp1
HG01175.hp2
HG01981.hp1
HG02040.hp1
HG02083.hp2
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp2
HG02486.hp2
HG02559.hp1
HG02602.hp1
HG02622.hp1
HG02647.hp2
HG02723.hp1
HG02895.hp1
HG02922.hp1
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp2
HG03710.hp2
HG04115.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18942.hp1
NA18945.hp2
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18959.hp1
NA18959.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp2
NA18979.hp1
NA18984.hp1
NA19030.hp1
NA19074.hp2
NA19088.hp1
NA19240.hp1
 intron_variant MODIFIER c.1621-8919dupT
c.1621-8919dupT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36906049
chr21:36906049 C
C
 CAA
CAA
 63 a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
others(60): Show 
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0183
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0011g0107
a0001c0001t0012g0234
a0001c0001t0013g0231
a0001c0001t0014g0159
a0001c0001t0014g0182
a0001c0001t0016g0098
a0001c0001t0018g0176
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0039g0126
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0065g0252
a0001c0001t0071g0089
a0001c0001t0078g0108
a0001c0001t0085g0110
a0001c0001t0089g0099
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0106g0253
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0068g0088
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0006c0016t0001g0116
a0009c0009t0012g0196
 63 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(60): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01192.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01496.hp1
HG01975.hp1
HG01978.hp1
HG02080.hp1
HG02145.hp2
HG02257.hp1
HG02300.hp2
HG02523.hp2
HG02622.hp2
HG02647.hp1
HG02683.hp2
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp2
HG02976.hp1
HG03041.hp2
HG03130.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03490.hp2
HG03492.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03831.hp1
HG03927.hp2
HG04204.hp1
HG06807.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18977.hp2
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19009.hp2
NA19030.hp2
NA19068.hp2
NA19084.hp1
NA19240.hp2
NA20805.hp2
 intron_variant MODIFIER c.1621-8920_1621-891
others(6): Show 
c.1621-8920_1621-8919dupTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36906049
chr21:36906049 C
C
 CAAA
CAAA
 12 a0001c0001t0001g0122
a0001c0001t0002g0193
a0001c0001t0006g0256
others(9): Show 
a0001c0001t0001g0122
a0001c0001t0002g0193
a0001c0001t0006g0256
a0001c0001t0007g0194
a0001c0001t0008g0078
a0001c0001t0010g0169
a0001c0001t0024g0191
a0001c0001t0030g0257
a0001c0001t0037g0254
a0001c0001t0069g0255
a0001c0003t0050g0206
a0001c0003t0111g0137
 12 HG01255.hp2
HG01346.hp1
HG02109.hp2
others(9): Show 
HG01255.hp2
HG01346.hp1
HG02109.hp2
HG02572.hp1
HG02615.hp2
HG02717.hp2
HG02809.hp2
HG03098.hp2
HG03130.hp2
HG03831.hp2
HG03927.hp1
NA18944.hp1
 intron_variant MODIFIER c.1621-8921_1621-891
others(7): Show 
c.1621-8921_1621-8919dupTTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36906049
chr21:36906064 AC
AC
 A
A
 4 a0001c0001t0004g0015
a0001c0001t0030g0048
a0001c0001t0038g0102
others(1): Show 
a0001c0001t0004g0015
a0001c0001t0030g0048
a0001c0001t0038g0102
a0001c0001t0075g0049
 4 HG00741.hp2
HG01243.hp1
HG02109.hp1
others(1): Show 
HG00741.hp2
HG01243.hp1
HG02109.hp1
HG02572.hp2
 intron_variant MODIFIER c.1621-8934delG
c.1621-8934delG
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36906064
chr21:36906065 C
C
 A
A
 93 a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
others(90): Show 
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0113
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0029g0136
a0001c0001t0030g0257
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0039g0126
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0065g0252
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0093g0133
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0106g0253
a0001c0001t0109g0119
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0111g0137
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0042g0209
a0001c0004t0068g0088
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0009c0009t0012g0196
 93 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(90): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00735.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02300.hp2
HG02486.hp1
HG02523.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03490.hp2
HG03492.hp2
HG03540.hp1
HG03669.hp2
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04204.hp1
HG06807.hp2
NA18612.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18959.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18975.hp2
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19030.hp2
NA19068.hp2
NA19074.hp2
NA19240.hp2
NA20805.hp2
 intron_variant MODIFIER c.1621-8934G>T
c.1621-8934G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36906065
chr21:36906070 C
C
 A
A
 64 a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
others(61): Show 
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0004g0138
a0001c0001t0005g0113
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0028g0167
a0001c0001t0030g0257
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0039g0126
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0109g0119
a0001c0003t0111g0137
a0001c0013t0022g0177
a0006c0016t0001g0116
a0007c0014t0070g0131
a0009c0009t0012g0196
 64 HG00280.hp2
HG00323.hp2
HG00438.hp2
others(61): Show 
HG00280.hp2
HG00323.hp2
HG00438.hp2
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01346.hp1
HG01496.hp1
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02300.hp2
HG02523.hp2
HG02572.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp2
HG03540.hp1
HG03669.hp2
HG03704.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG06807.hp2
NA18612.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18959.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18975.hp2
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19030.hp2
NA19068.hp2
NA19074.hp2
NA19240.hp2
 intron_variant MODIFIER c.1621-8939G>T
c.1621-8939G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36906070
chr21:36906098 A
A
 T
T
 1 a0001c0001t0002g0160
a0001c0001t0002g0160
 1 HG03669.hp2
HG03669.hp2
 intron_variant MODIFIER c.1621-8967T>A
c.1621-8967T>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36906098
chr21:36906240 A
A
 G
G
 1 a0001c0001t0034g0070
a0001c0001t0034g0070
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.1621-9109T>C
c.1621-9109T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36906240
chr21:36906254 A
A
 T
T
 1 a0001c0001t0034g0070
a0001c0001t0034g0070
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.1621-9123T>A
c.1621-9123T>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36906254
chr21:36906351 G
G
 C
C
 19 a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0002g0238
others(16): Show 
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0002g0238
a0001c0001t0005g0086
a0001c0001t0006g0085
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0011g0118
a0001c0001t0016g0091
a0001c0001t0020g0121
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0036g0123
a0001c0001t0076g0090
a0001c0001t0080g0093
a0001c0001t0087g0095
a0001c0001t0095g0117
a0001c0001t0104g0114
a0008c0012t0035g0069
 19 HG00673.hp1
HG01255.hp1
HG01361.hp2
others(16): Show 
HG00673.hp1
HG01255.hp1
HG01361.hp2
HG01496.hp2
HG02027.hp2
HG02040.hp2
NA18612.hp1
NA18940.hp1
NA18944.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp2
NA19057.hp1
NA19084.hp2
NA19088.hp2
NA20129.hp2
 intron_variant MODIFIER c.1621-9220C>G
c.1621-9220C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36906351
chr21:36906447 T
T
 C
C
 8 a0001c0001t0012g0234
a0001c0001t0018g0189
a0001c0001t0024g0191
others(5): Show 
a0001c0001t0012g0234
a0001c0001t0018g0189
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0065g0252
a0001c0001t0106g0253
a0001c0004t0017g0219
a0001c0004t0017g0220
 8 HG01952.hp2
HG02622.hp2
HG02896.hp1
others(5): Show 
HG01952.hp2
HG02622.hp2
HG02896.hp1
HG02897.hp2
HG03041.hp2
HG03098.hp2
HG03225.hp2
HG04204.hp1
 intron_variant MODIFIER c.1621-9316A>G
c.1621-9316A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36906447
chr21:36906585 T
T
 C
C
 4 a0001c0001t0010g0249
a0001c0001t0028g0192
a0001c0001t0044g0161
others(1): Show 
a0001c0001t0010g0249
a0001c0001t0028g0192
a0001c0001t0044g0161
a0001c0004t0017g0224
 4 HG02486.hp2
HG02647.hp2
HG02922.hp1
others(1): Show 
HG02486.hp2
HG02647.hp2
HG02922.hp1
HG03139.hp1
 intron_variant MODIFIER c.1621-9454A>G
c.1621-9454A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36906585
chr21:36906647 C
C
 G
G
 1 a0001c0001t0019g0101
a0001c0001t0019g0101
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.1621-9516G>C
c.1621-9516G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36906647
chr21:36906677 C
C
 CT
CT
 5 a0001c0001t0006g0132
a0001c0001t0013g0240
a0001c0001t0026g0250
others(2): Show 
a0001c0001t0006g0132
a0001c0001t0013g0240
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0057g0225
 5 HG01257.hp2
HG01258.hp1
HG02976.hp1
others(2): Show 
HG01257.hp2
HG01258.hp1
HG02976.hp1
NA18939.hp1
NA18979.hp1
 intron_variant MODIFIER c.1621-9547dupA
c.1621-9547dupA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36906677
chr21:36906677 CT
CT
 C
C
 72 a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0002g0165
others(69): Show 
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0004g0138
a0001c0001t0005g0113
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0022g0187
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0030g0257
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0061g0163
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0111g0137
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0068g0088
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0002c0002t0040g0242
a0002c0002t0064g0243
a0006c0016t0001g0116
a0007c0014t0070g0131
a0009c0009t0012g0196
 72 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(69): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00735.hp1
HG00741.hp1
HG01071.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01175.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01496.hp1
HG01884.hp1
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp2
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02965.hp2
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp2
HG03225.hp1
HG03492.hp2
HG03540.hp1
HG03669.hp1
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp2
HG06807.hp2
NA18612.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18959.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18975.hp2
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19030.hp2
NA19068.hp2
NA19074.hp2
NA19240.hp2
NA20805.hp2
 intron_variant MODIFIER c.1621-9547delA
c.1621-9547delA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36906677
chr21:36906736 T
T
 C
C
 1 a0001c0001t0005g0086
a0001c0001t0005g0086
 1 NA18944.hp2
NA18944.hp2
 intron_variant MODIFIER c.1621-9605A>G
c.1621-9605A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36906736
chr21:36906824 G
G
 A
A
 1 a0001c0001t0091g0042
a0001c0001t0091g0042
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.1621-9693C>T
c.1621-9693C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36906824
chr21:36906833 T
T
 C
C
 1 a0001c0001t0010g0249
a0001c0001t0010g0249
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.1621-9702A>G
c.1621-9702A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36906833
chr21:36906912 T
T
 A
A
 2 a0001c0001t0065g0252
a0001c0001t0106g0253
a0001c0001t0065g0252
a0001c0001t0106g0253
 2 HG02622.hp2
HG03041.hp2
HG02622.hp2
HG03041.hp2
 intron_variant MODIFIER c.1621-9781A>T
c.1621-9781A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36906912
chr21:36907167 A
A
 C
C
 1 a0001c0001t0012g0234
a0001c0001t0012g0234
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.1621-10036T>G
c.1621-10036T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36907167
chr21:36907229 G
G
 C
C
 1 a0001c0001t0014g0241
a0001c0001t0014g0241
 1 HG00673.hp2
HG00673.hp2
 intron_variant MODIFIER c.1621-10098C>G
c.1621-10098C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36907229
chr21:36907265 T
T
 G
G
 1 a0002c0002t0027g0157
a0002c0002t0027g0157
 1 HG02135.hp2
HG02135.hp2
 intron_variant MODIFIER c.1621-10134A>C
c.1621-10134A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36907265
chr21:36907553 G
G
 A
A
 1 a0001c0001t0057g0225
a0001c0001t0057g0225
 1 NA18979.hp1
NA18979.hp1
 intron_variant MODIFIER c.1621-10422C>T
c.1621-10422C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36907553
chr21:36907569 T
T
 C
C
 1 a0003c0005t0002g0195
a0003c0005t0002g0195
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.1621-10438A>G
c.1621-10438A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36907569
chr21:36907588 G
G
 A
A
 1 a0005c0011t0033g0139
a0005c0011t0033g0139
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.1621-10457C>T
c.1621-10457C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36907588
chr21:36907603 T
T
 C
C
 81 a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
others(78): Show 
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0004g0138
a0001c0001t0005g0113
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0022g0187
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0030g0257
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0111g0137
a0001c0004t0017g0224
a0001c0004t0068g0088
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0006c0016t0001g0116
a0007c0014t0070g0131
a0009c0009t0012g0196
 81 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(78): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02300.hp2
HG02486.hp2
HG02523.hp2
HG02572.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02965.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG06807.hp2
NA18612.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18959.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18975.hp2
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19030.hp2
NA19068.hp2
NA19074.hp2
NA19240.hp2
NA20805.hp2
 intron_variant MODIFIER c.1621-10472A>G
c.1621-10472A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36907603
chr21:36907716 A
A
 C
C
 3 a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0006g0012
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0006g0012
 3 HG02523.hp1
NA19068.hp1
NA19074.hp1
HG02523.hp1
NA19068.hp1
NA19074.hp1
 intron_variant MODIFIER c.1621-10585T>G
c.1621-10585T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36907716
chr21:36907948 T
T
 C
C
 1 a0001c0001t0007g0194
a0001c0001t0007g0194
 1 HG03831.hp2
HG03831.hp2
 intron_variant MODIFIER c.1621-10817A>G
c.1621-10817A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36907948
chr21:36908163 T
T
 C
C
 1 a0001c0001t0006g0132
a0001c0001t0006g0132
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.1621-11032A>G
c.1621-11032A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36908163
chr21:36908250 A
A
 T
T
 1 a0001c0004t0042g0209
a0001c0004t0042g0209
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.1621-11119T>A
c.1621-11119T>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36908250
chr21:36908306 T
T
 C
C
 9 a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0018g0189
others(6): Show 
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0018g0189
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0065g0252
a0001c0001t0106g0253
a0001c0004t0017g0219
a0001c0004t0017g0220
 9 HG01952.hp2
HG02622.hp2
HG02896.hp1
others(6): Show 
HG01952.hp2
HG02622.hp2
HG02896.hp1
HG02897.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG04204.hp1
 intron_variant MODIFIER c.1621-11175A>G
c.1621-11175A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36908306
chr21:36908391 T
T
 TA
TA
 80 a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
others(77): Show 
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0003g0166
a0001c0001t0003g0184
a0001c0001t0004g0138
a0001c0001t0005g0113
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0022g0187
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0030g0257
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0111g0137
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0068g0088
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0006c0016t0001g0116
a0007c0014t0070g0131
a0009c0009t0012g0196
 80 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(77): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00735.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02300.hp2
HG02486.hp2
HG02523.hp2
HG02572.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02965.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG06807.hp2
NA18612.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18975.hp2
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19030.hp2
NA19068.hp2
NA19074.hp2
NA19240.hp2
NA20805.hp2
 intron_variant MODIFIER c.1621-11261dupT
c.1621-11261dupT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36908391
chr21:36908425 T
T
 C
C
 82 a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
others(79): Show 
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0004g0138
a0001c0001t0005g0113
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0022g0187
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0030g0257
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0111g0137
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0068g0088
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0006c0016t0001g0116
a0007c0014t0070g0131
a0009c0009t0012g0196
 82 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(79): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00735.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02300.hp2
HG02486.hp2
HG02523.hp2
HG02572.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02965.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG06807.hp2
NA18612.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18959.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18975.hp2
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19030.hp2
NA19068.hp2
NA19074.hp2
NA19240.hp2
NA20805.hp2
 intron_variant MODIFIER c.1621-11294A>G
c.1621-11294A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36908425
chr21:36908519 T
T
 C
C
 4 a0001c0001t0010g0249
a0001c0001t0028g0192
a0001c0001t0044g0161
others(1): Show 
a0001c0001t0010g0249
a0001c0001t0028g0192
a0001c0001t0044g0161
a0001c0004t0017g0224
 4 HG02486.hp2
HG02647.hp2
HG02922.hp1
others(1): Show 
HG02486.hp2
HG02647.hp2
HG02922.hp1
HG03139.hp1
 intron_variant MODIFIER c.1621-11388A>G
c.1621-11388A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36908519
chr21:36908801 T
T
 C
C
 3 a0001c0001t0006g0109
a0001c0001t0032g0111
a0001c0001t0085g0110
a0001c0001t0006g0109
a0001c0001t0032g0111
a0001c0001t0085g0110
 3 HG01975.hp1
HG02145.hp2
HG06807.hp2
HG01975.hp1
HG02145.hp2
HG06807.hp2
 intron_variant MODIFIER c.1621-11670A>G
c.1621-11670A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36908801
chr21:36908820 A
A
 G
G
 3 a0001c0001t0007g0194
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0007g0194
a0001c0001t0009g0201
a0001c0001t0009g0202
 3 HG01256.hp2
HG01258.hp2
HG03831.hp2
HG01256.hp2
HG01258.hp2
HG03831.hp2
 intron_variant MODIFIER c.1621-11689T>C
c.1621-11689T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36908820
chr21:36908889 C
C
 T
T
 81 a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
others(78): Show 
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0004g0138
a0001c0001t0005g0113
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0022g0187
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0030g0257
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0111g0137
a0001c0004t0017g0224
a0001c0004t0068g0088
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0006c0016t0001g0116
a0007c0014t0070g0131
a0009c0009t0012g0196
 81 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(78): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02300.hp2
HG02486.hp2
HG02523.hp2
HG02572.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02965.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG06807.hp2
NA18612.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18959.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18975.hp2
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19030.hp2
NA19068.hp2
NA19074.hp2
NA19240.hp2
NA20805.hp2
 intron_variant MODIFIER c.1621-11758G>A
c.1621-11758G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36908889
chr21:36908944 T
T
 C
C
 1 a0002c0002t0048g0144
a0002c0002t0048g0144
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.1621-11813A>G
c.1621-11813A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36908944
chr21:36909461 G
G
 A
A
 1 a0001c0004t0004g0046
a0001c0004t0004g0046
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.1621-12330C>T
c.1621-12330C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36909461
chr21:36909686 G
G
 A
A
 10 a0001c0001t0005g0052
a0001c0001t0019g0061
a0001c0001t0029g0051
others(7): Show 
a0001c0001t0005g0052
a0001c0001t0019g0061
a0001c0001t0029g0051
a0001c0001t0038g0054
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0004t0067g0067
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
 10 HG01109.hp1
HG01884.hp2
HG01891.hp1
others(7): Show 
HG01109.hp1
HG01884.hp2
HG01891.hp1
HG02145.hp1
HG02818.hp2
HG02922.hp2
HG03195.hp1
HG03453.hp2
NA19043.hp1
NA19043.hp2
 intron_variant MODIFIER c.1621-12555C>T
c.1621-12555C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36909686
chr21:36909773 T
T
 C
C
 1 a0001c0004t0042g0209
a0001c0004t0042g0209
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.1621-12642A>G
c.1621-12642A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36909773
chr21:36909920 C
C
 G
G
 5 a0001c0001t0019g0247
a0001c0001t0031g0245
a0001c0001t0073g0246
others(2): Show 
a0001c0001t0019g0247
a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0004t0072g0248
a0002c0002t0025g0149
 5 HG02559.hp1
HG03471.hp2
HG03516.hp1
others(2): Show 
HG02559.hp1
HG03471.hp2
HG03516.hp1
HG06807.hp1
NA19240.hp1
 intron_variant MODIFIER c.1621-12789G>C
c.1621-12789G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36909920
chr21:36910175 C
C
 T
T
 10 a0001c0001t0010g0249
a0001c0001t0028g0192
a0001c0001t0044g0161
others(7): Show 
a0001c0001t0010g0249
a0001c0001t0028g0192
a0001c0001t0044g0161
a0001c0004t0017g0224
a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0041g0148
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0062g0145
 10 HG00639.hp1
HG02280.hp2
HG02486.hp2
others(7): Show 
HG00639.hp1
HG02280.hp2
HG02486.hp2
HG02647.hp2
HG02922.hp1
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03579.hp2
NA18522.hp1
 intron_variant MODIFIER c.1621-13044G>A
c.1621-13044G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36910175
chr21:36910267 G
G
 A
A
 1 a0001c0003t0012g0205
a0001c0003t0012g0205
 1 HG01106.hp1
HG01106.hp1
 intron_variant MODIFIER c.1621-13136C>T
c.1621-13136C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36910267
chr21:36910270 C
C
 T
T
 2 a0002c0002t0040g0242
a0002c0002t0064g0243
a0002c0002t0040g0242
a0002c0002t0064g0243
 2 HG02559.hp2
HG03041.hp1
HG02559.hp2
HG03041.hp1
 intron_variant MODIFIER c.1621-13139G>A
c.1621-13139G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36910270
chr21:36910271 G
G
 A
A
 1 a0001c0001t0003g0244
a0001c0001t0003g0244
 1 NA18952.hp2
NA18952.hp2
 intron_variant MODIFIER c.1621-13140C>T
c.1621-13140C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36910271
chr21:36910280 A
A
 C
C
 99 a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
others(96): Show 
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0113
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0136
a0001c0001t0030g0257
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0065g0252
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0093g0133
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0106g0253
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0111g0137
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0068g0088
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0009c0009t0012g0196
 99 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(96): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00735.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03490.hp2
HG03492.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04204.hp1
HG06807.hp2
NA18612.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18959.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18975.hp2
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19030.hp2
NA19068.hp2
NA19074.hp2
NA19240.hp2
NA20805.hp2
 intron_variant MODIFIER c.1621-13149T>G
c.1621-13149T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36910280
chr21:36910295 G
G
 A
A
 2 a0001c0001t0022g0187
a0001c0004t0068g0088
a0001c0001t0022g0187
a0001c0004t0068g0088
 2 HG01884.hp1
HG03195.hp2
HG01884.hp1
HG03195.hp2
 intron_variant MODIFIER c.1621-13164C>T
c.1621-13164C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36910295
chr21:36910378 C
C
 G
G
 7 a0001c0001t0019g0247
a0001c0001t0031g0245
a0001c0001t0073g0246
others(4): Show 
a0001c0001t0019g0247
a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0004t0072g0248
a0002c0002t0018g0153
a0002c0002t0025g0149
a0002c0002t0043g0152
 7 HG02559.hp1
HG03471.hp1
HG03471.hp2
others(4): Show 
HG02559.hp1
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG06807.hp1
NA18522.hp2
NA19240.hp1
 intron_variant MODIFIER c.1621-13247G>C
c.1621-13247G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36910378
chr21:36910437 G
G
 A
A
 9 a0001c0001t0013g0223
a0002c0002t0013g0147
a0002c0002t0025g0146
others(6): Show 
a0001c0001t0013g0223
a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0062g0145
a0002c0002t0064g0243
 9 HG00639.hp1
HG02280.hp2
HG02559.hp2
others(6): Show 
HG00639.hp1
HG02280.hp2
HG02559.hp2
HG03041.hp1
HG03098.hp1
HG03139.hp2
HG03209.hp2
HG03579.hp2
NA18522.hp1
 intron_variant MODIFIER c.1621-13306C>T
c.1621-13306C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36910437
chr21:36910546 G
G
 GAA
GAA
 80 a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
others(77): Show 
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0004g0138
a0001c0001t0005g0113
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0022g0187
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0030g0257
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0059g0180
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0111g0137
a0001c0004t0017g0224
a0001c0004t0068g0088
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0006c0016t0001g0116
a0007c0014t0070g0131
a0009c0009t0012g0196
 80 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(77): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02300.hp2
HG02486.hp2
HG02523.hp2
HG02572.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02965.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG06807.hp2
NA18612.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18959.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18975.hp2
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19030.hp2
NA19068.hp2
NA19074.hp2
NA19240.hp2
NA20805.hp2
 intron_variant MODIFIER c.1621-13417_1621-13
others(8): Show 
c.1621-13417_1621-13416dupTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36910546
chr21:36910546 GA
GA
 G
G
 6 a0001c0001t0004g0045
a0001c0001t0005g0135
a0001c0001t0013g0223
others(3): Show 
a0001c0001t0004g0045
a0001c0001t0005g0135
a0001c0001t0013g0223
a0001c0001t0029g0136
a0001c0001t0093g0133
a0001c0004t0017g0219
 6 HG01099.hp2
HG02486.hp1
HG02615.hp1
others(3): Show 
HG01099.hp2
HG02486.hp1
HG02615.hp1
HG02809.hp1
HG02897.hp2
HG03098.hp1
 intron_variant MODIFIER c.1621-13416delT
c.1621-13416delT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36910546
chr21:36910585 T
T
 C
C
 8 a0001c0001t0012g0234
a0001c0001t0018g0189
a0001c0001t0024g0191
others(5): Show 
a0001c0001t0012g0234
a0001c0001t0018g0189
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0065g0252
a0001c0001t0106g0253
a0001c0004t0017g0219
a0001c0004t0017g0220
 8 HG01952.hp2
HG02622.hp2
HG02896.hp1
others(5): Show 
HG01952.hp2
HG02622.hp2
HG02896.hp1
HG02897.hp2
HG03041.hp2
HG03098.hp2
HG03225.hp2
HG04204.hp1
 intron_variant MODIFIER c.1621-13454A>G
c.1621-13454A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36910585
chr21:36910673 C
C
 T
T
 1 a0002c0002t0046g0150
a0002c0002t0046g0150
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.1621-13542G>A
c.1621-13542G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36910673
chr21:36910874 C
C
 T
T
 3 a0001c0001t0005g0135
a0001c0001t0029g0136
a0001c0001t0093g0133
a0001c0001t0005g0135
a0001c0001t0029g0136
a0001c0001t0093g0133
 3 HG01099.hp2
HG02615.hp1
HG02809.hp1
HG01099.hp2
HG02615.hp1
HG02809.hp1
 intron_variant MODIFIER c.1621-13743G>A
c.1621-13743G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36910874
chr21:36910882 CCT
CCT
 C
C
 3 a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0034g0070
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0034g0070
 3 HG03490.hp1
HG03492.hp1
HG04115.hp1
HG03490.hp1
HG03492.hp1
HG04115.hp1
 intron_variant MODIFIER c.1621-13753_1621-13
others(8): Show 
c.1621-13753_1621-13752delAG
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36910882
chr21:36911023 G
G
 A
A
 1 a0001c0001t0018g0189
a0001c0001t0018g0189
 1 HG01952.hp2
HG01952.hp2
 intron_variant MODIFIER c.1621-13892C>T
c.1621-13892C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36911023
chr21:36911097 T
T
 C
C
 4 a0001c0001t0001g0024
a0001c0001t0001g0036
a0001c0001t0001g0062
others(1): Show 
a0001c0001t0001g0024
a0001c0001t0001g0036
a0001c0001t0001g0062
a0001c0001t0096g0025
 4 HG01257.hp1
HG01346.hp2
HG01975.hp2
others(1): Show 
HG01257.hp1
HG01346.hp2
HG01975.hp2
HG01978.hp2
 intron_variant MODIFIER c.1621-13966A>G
c.1621-13966A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36911097
chr21:36911200 C
C
 T
T
 9 a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0018g0189
others(6): Show 
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0018g0189
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0065g0252
a0001c0001t0106g0253
a0001c0004t0017g0219
a0001c0004t0017g0220
 9 HG01952.hp2
HG02622.hp2
HG02896.hp1
others(6): Show 
HG01952.hp2
HG02622.hp2
HG02896.hp1
HG02897.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG04204.hp1
 intron_variant MODIFIER c.1621-14069G>A
c.1621-14069G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36911200
chr21:36911292 C
C
 G
G
 4 a0001c0001t0010g0249
a0001c0001t0028g0192
a0001c0001t0044g0161
others(1): Show 
a0001c0001t0010g0249
a0001c0001t0028g0192
a0001c0001t0044g0161
a0001c0004t0017g0224
 4 HG02486.hp2
HG02647.hp2
HG02922.hp1
others(1): Show 
HG02486.hp2
HG02647.hp2
HG02922.hp1
HG03139.hp1
 intron_variant MODIFIER c.1621-14161G>C
c.1621-14161G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36911292
chr21:36911386 C
C
 T
T
 9 a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0018g0189
others(6): Show 
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0018g0189
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0065g0252
a0001c0001t0106g0253
a0001c0004t0017g0219
a0001c0004t0017g0220
 9 HG01952.hp2
HG02622.hp2
HG02896.hp1
others(6): Show 
HG01952.hp2
HG02622.hp2
HG02896.hp1
HG02897.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG04204.hp1
 intron_variant MODIFIER c.1621-14255G>A
c.1621-14255G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36911386
chr21:36911697 C
C
 T
T
 1 a0001c0001t0010g0164
a0001c0001t0010g0164
 1 NA18993.hp2
NA18993.hp2
 intron_variant MODIFIER c.1621-14566G>A
c.1621-14566G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36911697
chr21:36911748 CA
CA
 C
C
 138 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(135): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0066
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0175
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0029
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0010g0164
a0001c0001t0010g0213
a0001c0001t0011g0022
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0075g0049
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0103g0100
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0012g0205
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0004g0046
a0001c0004t0017g0220
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0010t0011g0020
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0149
a0002c0002t0040g0242
a0002c0002t0043g0152
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0007c0014t0070g0131
a0009c0009t0012g0196
 138 HG00280.hp1
HG00438.hp2
HG00639.hp2
others(135): Show 
HG00280.hp1
HG00438.hp2
HG00639.hp2
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp1
HG01257.hp1
HG01361.hp1
HG01433.hp1
HG01515.hp1
HG01516.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp1
HG01952.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02280.hp1
HG02300.hp1
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03927.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp2
NA18939.hp1
NA18940.hp2
NA18941.hp2
NA18942.hp1
NA18945.hp1
NA18947.hp2
NA18948.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp1
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1621-14618delT
c.1621-14618delT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36911748
chr21:36911748 CAA
CAA
 C
C
 71 a0001c0001t0001g0062
a0001c0001t0001g0077
a0001c0001t0001g0120
others(68): Show 
a0001c0001t0001g0062
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0004g0138
a0001c0001t0005g0113
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0030g0257
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0044g0161
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0069g0255
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0094g0031
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0050g0206
a0001c0003t0111g0137
a0001c0004t0017g0219
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0006c0016t0001g0116
 71 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(68): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00735.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02300.hp2
HG02486.hp2
HG02523.hp2
HG02615.hp2
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03490.hp2
HG03492.hp2
HG03540.hp1
HG03669.hp1
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp2
HG06807.hp2
NA18612.hp2
NA18939.hp2
NA18941.hp1
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18959.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18975.hp2
NA18989.hp1
NA19004.hp2
NA19068.hp2
NA19074.hp2
NA20805.hp2
 intron_variant MODIFIER c.1621-14619_1621-14
others(8): Show 
c.1621-14619_1621-14618delTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36911748
chr21:36911797 G
G
 A
A
 64 a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
others(61): Show 
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0003g0175
a0001c0001t0003g0244
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0058
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0094
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0011g0022
a0001c0001t0014g0241
a0001c0001t0016g0047
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0030g0048
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0075g0049
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0081g0016
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0091g0042
a0001c0001t0094g0031
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0100g0073
a0001c0001t0102g0063
a0001c0001t0110g0023
a0001c0003t0007g0210
a0001c0004t0004g0046
a0001c0008t0008g0001
a0001c0010t0011g0020
a0004c0019t0112g0258
 64 HG00280.hp1
HG00438.hp1
HG00639.hp2
others(61): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp2
HG00673.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01099.hp1
HG01123.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp1
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01515.hp1
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02300.hp1
HG02523.hp1
HG02572.hp2
HG02602.hp2
HG02683.hp1
HG02818.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp1
HG03492.hp1
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04228.hp1
NA18940.hp2
NA18941.hp1
NA18945.hp1
NA18948.hp1
NA18950.hp1
NA18951.hp2
NA18952.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1621-14666C>T
c.1621-14666C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36911797
chr21:36911828 G
G
 A
A
 4 a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0003g0156
others(1): Show 
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0003g0156
a0002c0002t0027g0157
 4 HG02135.hp2
NA18951.hp1
NA18961.hp1
others(1): Show 
HG02135.hp2
NA18951.hp1
NA18961.hp1
NA19088.hp1
 intron_variant MODIFIER c.1621-14697C>T
c.1621-14697C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36911828
chr21:36912071 C
C
 CA
CA
 74 a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
others(71): Show 
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0004g0138
a0001c0001t0005g0113
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0170
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0020g0034
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0028g0167
a0001c0001t0030g0257
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0039g0126
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0065g0252
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0106g0253
a0001c0001t0109g0119
a0001c0003t0111g0137
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0013t0022g0177
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0009c0009t0012g0196
 74 HG00280.hp2
HG00438.hp2
HG00741.hp1
others(71): Show 
HG00280.hp2
HG00438.hp2
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01346.hp1
HG01496.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02300.hp2
HG02523.hp2
HG02572.hp1
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03225.hp2
HG03490.hp2
HG03492.hp2
HG03540.hp1
HG03669.hp2
HG03704.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG04204.hp1
HG06807.hp2
NA18612.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18959.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18975.hp2
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19030.hp2
NA19068.hp2
NA19074.hp2
NA19240.hp2
 intron_variant MODIFIER c.1621-14941dupT
c.1621-14941dupT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36912071
chr21:36912071 CA
CA
 C
C
 11 a0001c0001t0001g0062
a0001c0001t0001g0074
a0001c0001t0001g0079
others(8): Show 
a0001c0001t0001g0062
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0005g0135
a0001c0001t0029g0136
a0001c0001t0038g0102
a0001c0001t0093g0133
a0002c0002t0018g0153
a0002c0002t0043g0152
 11 HG00639.hp2
HG01099.hp2
HG01169.hp2
others(8): Show 
HG00639.hp2
HG01099.hp2
HG01169.hp2
HG01515.hp1
HG01975.hp2
HG02486.hp1
HG02572.hp2
HG02615.hp1
HG02809.hp1
HG03471.hp1
NA18522.hp2
 intron_variant MODIFIER c.1621-14941delT
c.1621-14941delT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36912071
chr21:36912097 G
G
 A
A
 1 a0001c0001t0077g0039
a0001c0001t0077g0039
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.1621-14966C>T
c.1621-14966C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36912097
chr21:36912143 A
A
 G
G
 230 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(227): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0075g0049
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0006c0016t0001g0116
a0007c0014t0070g0131
a0009c0009t0012g0196
 230 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(227): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02040.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18945.hp1
NA18945.hp2
NA18947.hp2
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18989.hp1
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1621-15012T>C
c.1621-15012T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36912143
chr21:36912242 T
T
 C
C
 1 a0001c0004t0042g0209
a0001c0004t0042g0209
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.1621-15111A>G
c.1621-15111A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36912242
chr21:36912297 CA
CA
 C
C
 9 a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0018g0189
others(6): Show 
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0018g0189
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0065g0252
a0001c0001t0106g0253
a0001c0004t0017g0219
a0001c0004t0017g0220
 9 HG01952.hp2
HG02622.hp2
HG02896.hp1
others(6): Show 
HG01952.hp2
HG02622.hp2
HG02896.hp1
HG02897.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG04204.hp1
 intron_variant MODIFIER c.1621-15167delT
c.1621-15167delT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36912297
chr21:36912471 G
G
 T
T
 1 a0001c0004t0068g0088
a0001c0004t0068g0088
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.1621-15340C>A
c.1621-15340C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36912471
chr21:36912475 C
C
 T
T
 3 a0002c0002t0013g0147
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0013g0147
a0002c0002t0045g0151
a0002c0002t0046g0150
 3 HG03139.hp2
HG03579.hp2
NA18522.hp1
HG03139.hp2
HG03579.hp2
NA18522.hp1
 intron_variant MODIFIER c.1621-15344G>A
c.1621-15344G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36912475
chr21:36912592 G
G
 A
A
 39 a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
others(36): Show 
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0002g0193
a0001c0001t0004g0138
a0001c0001t0005g0113
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0010g0164
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0028g0167
a0001c0001t0030g0257
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0039g0126
a0001c0001t0059g0180
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0109g0119
a0001c0003t0111g0137
a0006c0016t0001g0116
a0007c0014t0070g0131
a0009c0009t0012g0196
 39 HG00438.hp2
HG00741.hp1
HG01070.hp1
others(36): Show 
HG00438.hp2
HG00741.hp1
HG01070.hp1
HG01071.hp1
HG01175.hp1
HG01346.hp1
HG01975.hp1
HG01981.hp1
HG02040.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02523.hp2
HG02572.hp1
HG02615.hp2
HG02647.hp1
HG02717.hp2
HG02809.hp2
HG02895.hp1
HG02897.hp1
HG02965.hp2
HG03130.hp2
HG03225.hp1
HG03540.hp1
HG03927.hp1
HG06807.hp2
NA18612.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18959.hp1
NA18970.hp2
NA18975.hp2
NA18989.hp1
NA18993.hp2
NA19030.hp2
NA19074.hp2
NA19240.hp2
 intron_variant MODIFIER c.1621-15461C>T
c.1621-15461C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36912592
chr21:36912608 C
C
 T
T
 4 a0001c0001t0010g0249
a0001c0001t0028g0192
a0001c0001t0044g0161
others(1): Show 
a0001c0001t0010g0249
a0001c0001t0028g0192
a0001c0001t0044g0161
a0001c0004t0017g0224
 4 HG02486.hp2
HG02647.hp2
HG02922.hp1
others(1): Show 
HG02486.hp2
HG02647.hp2
HG02922.hp1
HG03139.hp1
 intron_variant MODIFIER c.1621-15477G>A
c.1621-15477G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36912608
chr21:36912830 C
C
 T
T
 1 a0001c0001t0057g0225
a0001c0001t0057g0225
 1 NA18979.hp1
NA18979.hp1
 intron_variant MODIFIER c.1621-15699G>A
c.1621-15699G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36912830
chr21:36912934 G
G
 A
A
 3 a0002c0002t0013g0147
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0013g0147
a0002c0002t0045g0151
a0002c0002t0046g0150
 3 HG03139.hp2
HG03579.hp2
NA18522.hp1
HG03139.hp2
HG03579.hp2
NA18522.hp1
 intron_variant MODIFIER c.1621-15803C>T
c.1621-15803C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36912934
chr21:36912988 C
C
 T
T
 1 a0001c0004t0004g0046
a0001c0004t0004g0046
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.1621-15857G>A
c.1621-15857G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36912988
chr21:36913068 C
C
 T
T
 1 a0001c0001t0034g0070
a0001c0001t0034g0070
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.1621-15937G>A
c.1621-15937G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36913068
chr21:36913133 T
T
 C
C
 9 a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0018g0189
others(6): Show 
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0018g0189
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0065g0252
a0001c0001t0106g0253
a0001c0004t0017g0219
a0001c0004t0017g0220
 9 HG01952.hp2
HG02622.hp2
HG02896.hp1
others(6): Show 
HG01952.hp2
HG02622.hp2
HG02896.hp1
HG02897.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG04204.hp1
 intron_variant MODIFIER c.1621-16002A>G
c.1621-16002A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36913133
chr21:36913138 C
C
 A
A
 3 a0001c0001t0001g0068
a0001c0001t0006g0019
a0001c0001t0094g0031
a0001c0001t0001g0068
a0001c0001t0006g0019
a0001c0001t0094g0031
 3 HG00438.hp1
NA18941.hp1
NA19009.hp1
HG00438.hp1
NA18941.hp1
NA19009.hp1
 intron_variant MODIFIER c.1621-16007G>T
c.1621-16007G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36913138
chr21:36913155 G
G
 A
A
 7 a0001c0001t0019g0247
a0001c0001t0031g0245
a0001c0001t0073g0246
others(4): Show 
a0001c0001t0019g0247
a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0004t0072g0248
a0002c0002t0025g0149
a0002c0002t0040g0242
a0002c0002t0064g0243
 7 HG02559.hp1
HG02559.hp2
HG03041.hp1
others(4): Show 
HG02559.hp1
HG02559.hp2
HG03041.hp1
HG03471.hp2
HG03516.hp1
HG06807.hp1
NA19240.hp1
 intron_variant MODIFIER c.1621-16024C>T
c.1621-16024C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36913155
chr21:36913209 A
A
 C
C
 1 a0005c0011t0033g0139
a0005c0011t0033g0139
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.1621-16078T>G
c.1621-16078T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36913209
chr21:36913300 A
A
 C
C
 2 a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0181
a0001c0001t0014g0182
 2 HG01168.hp2
HG01169.hp1
HG01168.hp2
HG01169.hp1
 intron_variant MODIFIER c.1621-16169T>G
c.1621-16169T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36913300
chr21:36913515 A
A
 C
C
 231 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(228): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0075g0049
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0009c0009t0012g0196
 231 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(228): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02040.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18945.hp1
NA18945.hp2
NA18947.hp2
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1621-16384T>G
c.1621-16384T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36913515
chr21:36913603 A
A
 G
G
 1 a0001c0001t0001g0028
a0001c0001t0001g0028
 1 HG02129.hp2
HG02129.hp2
 intron_variant MODIFIER c.1621-16472T>C
c.1621-16472T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36913603
chr21:36913758 T
T
 C
C
 1 a0001c0004t0042g0209
a0001c0004t0042g0209
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.1620+16493A>G
c.1620+16493A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36913758
chr21:36914259 C
C
 T
T
 5 a0001c0001t0019g0247
a0001c0001t0031g0245
a0001c0001t0073g0246
others(2): Show 
a0001c0001t0019g0247
a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0004t0072g0248
a0002c0002t0025g0149
 5 HG02559.hp1
HG03471.hp2
HG03516.hp1
others(2): Show 
HG02559.hp1
HG03471.hp2
HG03516.hp1
HG06807.hp1
NA19240.hp1
 intron_variant MODIFIER c.1620+15992G>A
c.1620+15992G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36914259
chr21:36914483 T
T
 C
C
 2 a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0006t0023g0212
a0001c0006t0023g0222
 2 HG02145.hp1
NA19043.hp2
HG02145.hp1
NA19043.hp2
 intron_variant MODIFIER c.1620+15768A>G
c.1620+15768A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36914483
chr21:36914543 T
T
 C
C
 2 a0001c0001t0065g0252
a0001c0001t0106g0253
a0001c0001t0065g0252
a0001c0001t0106g0253
 2 HG02622.hp2
HG03041.hp2
HG02622.hp2
HG03041.hp2
 intron_variant MODIFIER c.1620+15708A>G
c.1620+15708A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36914543
chr21:36914616 A
A
 T
T
 1 a0001c0001t0014g0159
a0001c0001t0014g0159
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.1620+15635T>A
c.1620+15635T>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36914616
chr21:36914618 T
T
 C
C
 99 a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
others(96): Show 
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0113
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0136
a0001c0001t0030g0257
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0065g0252
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0093g0133
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0106g0253
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0111g0137
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0068g0088
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0009c0009t0012g0196
 99 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(96): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00735.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03490.hp2
HG03492.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04204.hp1
HG06807.hp2
NA18612.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18959.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18975.hp2
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19030.hp2
NA19068.hp2
NA19074.hp2
NA19240.hp2
NA20805.hp2
 intron_variant MODIFIER c.1620+15633A>G
c.1620+15633A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36914618
chr21:36914674 A
A
 G
G
 91 a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
others(88): Show 
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0113
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0013g0223
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0022g0187
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0136
a0001c0001t0030g0257
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0093g0133
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0111g0137
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0068g0088
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0009c0009t0012g0196
 91 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(88): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00735.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG06807.hp2
NA18612.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18959.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18975.hp2
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19030.hp2
NA19068.hp2
NA19074.hp2
NA19240.hp2
NA20805.hp2
 intron_variant MODIFIER c.1620+15577T>C
c.1620+15577T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36914674
chr21:36914731 G
G
 A
A
 1 a0001c0001t0003g0175
a0001c0001t0003g0175
 1 NA18951.hp2
NA18951.hp2
 intron_variant MODIFIER c.1620+15520C>T
c.1620+15520C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36914731
chr21:36914739 C
C
 A
A
 1 a0005c0011t0033g0139
a0005c0011t0033g0139
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.1620+15512G>T
c.1620+15512G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36914739
chr21:36914739 C
C
 T
T
 10 a0001c0001t0005g0052
a0001c0001t0019g0061
a0001c0001t0029g0051
others(7): Show 
a0001c0001t0005g0052
a0001c0001t0019g0061
a0001c0001t0029g0051
a0001c0001t0038g0054
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0004t0067g0067
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
 10 HG01109.hp1
HG01884.hp2
HG01891.hp1
others(7): Show 
HG01109.hp1
HG01884.hp2
HG01891.hp1
HG02145.hp1
HG02818.hp2
HG02922.hp2
HG03195.hp1
HG03453.hp2
NA19043.hp1
NA19043.hp2
 intron_variant MODIFIER c.1620+15512G>A
c.1620+15512G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36914739
chr21:36914966 G
G
 A
A
 1 a0005c0011t0033g0139
a0005c0011t0033g0139
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.1620+15285C>T
c.1620+15285C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36914966
chr21:36915006 A
A
 G
G
 8 a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0040g0242
others(5): Show 
a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0062g0145
a0002c0002t0064g0243
 8 HG00639.hp1
HG02280.hp2
HG02559.hp2
others(5): Show 
HG00639.hp1
HG02280.hp2
HG02559.hp2
HG03041.hp1
HG03139.hp2
HG03209.hp2
HG03579.hp2
NA18522.hp1
 intron_variant MODIFIER c.1620+15245T>C
c.1620+15245T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36915006
chr21:36915050 T
T
 C
C
 21 a0001c0001t0004g0045
a0001c0001t0005g0135
a0001c0001t0006g0132
others(18): Show 
a0001c0001t0004g0045
a0001c0001t0005g0135
a0001c0001t0006g0132
a0001c0001t0010g0249
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0018g0189
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0192
a0001c0001t0029g0136
a0001c0001t0044g0161
a0001c0001t0065g0252
a0001c0001t0093g0133
a0001c0001t0106g0253
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0005c0011t0033g0139
 21 HG01099.hp2
HG01257.hp2
HG01258.hp1
others(18): Show 
HG01099.hp2
HG01257.hp2
HG01258.hp1
HG01952.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02622.hp2
HG02647.hp2
HG02809.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp2
HG04204.hp1
 intron_variant MODIFIER c.1620+15201A>G
c.1620+15201A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36915050
chr21:36915154 T
T
 C
C
 99 a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
others(96): Show 
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0113
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0136
a0001c0001t0030g0257
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0065g0252
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0093g0133
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0106g0253
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0111g0137
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0068g0088
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0009c0009t0012g0196
 99 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(96): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00735.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03490.hp2
HG03492.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04204.hp1
HG06807.hp2
NA18612.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18959.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18975.hp2
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19030.hp2
NA19068.hp2
NA19074.hp2
NA19240.hp2
NA20805.hp2
 intron_variant MODIFIER c.1620+15097A>G
c.1620+15097A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36915154
chr21:36915334 T
T
 A
A
 1 a0001c0018t0004g0060
a0001c0018t0004g0060
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.1620+14917A>T
c.1620+14917A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36915334
chr21:36915335 C
C
 A
A
 1 a0001c0018t0004g0060
a0001c0018t0004g0060
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.1620+14916G>T
c.1620+14916G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36915335
chr21:36915380 C
C
 A
A
 4 a0001c0001t0002g0193
a0001c0001t0071g0089
a0001c0001t0099g0124
others(1): Show 
a0001c0001t0002g0193
a0001c0001t0071g0089
a0001c0001t0099g0124
a0009c0009t0012g0196
 4 HG02572.hp1
HG02647.hp1
NA19030.hp2
others(1): Show 
HG02572.hp1
HG02647.hp1
NA19030.hp2
NA19240.hp2
 intron_variant MODIFIER c.1620+14871G>T
c.1620+14871G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36915380
chr21:36915573 C
C
 G
G
 120 a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
others(117): Show 
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0052
a0001c0001t0005g0113
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0257
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0093g0133
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0111g0137
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0017t0108g0082
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0009c0009t0012g0196
 120 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(117): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00735.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02280.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02809.hp2
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.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03490.hp2
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04204.hp1
HG06807.hp2
NA18612.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18959.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18975.hp2
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19068.hp2
NA19074.hp2
NA19240.hp2
NA20129.hp1
NA20805.hp2
 intron_variant MODIFIER c.1620+14678G>C
c.1620+14678G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36915573
chr21:36915723 TCCGGCAT
others(58): Show 
TCCGGCATGCCCACAGCTGATTCTTCTAGAAACTGTTTAACATGATTGTT
AAGAATAACCTAACAA
 T
T
 2 a0002c0002t0018g0153
a0002c0002t0043g0152
a0002c0002t0018g0153
a0002c0002t0043g0152
 2 HG03471.hp1
NA18522.hp2
HG03471.hp1
NA18522.hp2
 intron_variant MODIFIER c.1620+14463_1620+14
others(71): Show 
c.1620+14463_1620+14527delTTGTTAGGTTATTCTTAACAATCA
TGTTAAACAGTTTCTAGAAGAATCAGCTGTGGGCATGCCGG
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36915723
chr21:36915726 G
G
 A
A
 1 a0001c0001t0002g0165
a0001c0001t0002g0165
 1 HG01978.hp1
HG01978.hp1
 intron_variant MODIFIER c.1620+14525C>T
c.1620+14525C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36915726
chr21:36915907 T
T
 C
C
 3 a0001c0001t0006g0029
a0001c0001t0034g0030
a0001c0001t0077g0039
a0001c0001t0006g0029
a0001c0001t0034g0030
a0001c0001t0077g0039
 3 HG00738.hp2
HG01099.hp1
HG03239.hp2
HG00738.hp2
HG01099.hp1
HG03239.hp2
 intron_variant MODIFIER c.1620+14344A>G
c.1620+14344A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36915907
chr21:36915949 A
A
 T
T
 1 a0002c0002t0064g0243
a0002c0002t0064g0243
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.1620+14302T>A
c.1620+14302T>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36915949
chr21:36916005 T
T
 C
C
 1 a0001c0001t0001g0027
a0001c0001t0001g0027
 1 NA18948.hp1
NA18948.hp1
 intron_variant MODIFIER c.1620+14246A>G
c.1620+14246A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36916005
chr21:36916113 T
T
 C
C
 1 a0001c0001t0034g0030
a0001c0001t0034g0030
 1 HG00738.hp2
HG00738.hp2
 intron_variant MODIFIER c.1620+14138A>G
c.1620+14138A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36916113
chr21:36916132 CA
CA
 C
C
 3 a0001c0001t0006g0132
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0006g0132
a0001c0001t0026g0250
a0001c0001t0026g0251
 3 HG01257.hp2
HG01258.hp1
HG02976.hp1
HG01257.hp2
HG01258.hp1
HG02976.hp1
 intron_variant MODIFIER c.1620+14118delT
c.1620+14118delT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36916132
chr21:36916206 T
T
 C
C
 3 a0001c0001t0006g0132
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0006g0132
a0001c0001t0026g0250
a0001c0001t0026g0251
 3 HG01257.hp2
HG01258.hp1
HG02976.hp1
HG01257.hp2
HG01258.hp1
HG02976.hp1
 intron_variant MODIFIER c.1620+14045A>G
c.1620+14045A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36916206
chr21:36916240 T
T
 C
C
 255 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(252): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 255 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(252): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1620+14011A>G
c.1620+14011A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36916240
chr21:36916286 G
G
 A
A
 3 a0001c0001t0022g0187
a0001c0004t0042g0209
a0001c0004t0068g0088
a0001c0001t0022g0187
a0001c0004t0042g0209
a0001c0004t0068g0088
 3 HG00735.hp1
HG01884.hp1
HG03195.hp2
HG00735.hp1
HG01884.hp1
HG03195.hp2
 intron_variant MODIFIER c.1620+13965C>T
c.1620+13965C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36916286
chr21:36916306 T
T
 C
C
 5 a0001c0001t0001g0092
a0001c0001t0011g0118
a0001c0001t0016g0091
others(2): Show 
a0001c0001t0001g0092
a0001c0001t0011g0118
a0001c0001t0016g0091
a0001c0001t0076g0090
a0001c0001t0080g0093
 5 HG00673.hp1
NA18947.hp1
NA18979.hp2
others(2): Show 
HG00673.hp1
NA18947.hp1
NA18979.hp2
NA19084.hp2
NA19088.hp2
 intron_variant MODIFIER c.1620+13945A>G
c.1620+13945A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36916306
chr21:36916309 C
C
 T
T
 24 a0001c0001t0004g0045
a0001c0001t0005g0135
a0001c0001t0006g0132
others(21): Show 
a0001c0001t0004g0045
a0001c0001t0005g0135
a0001c0001t0006g0132
a0001c0001t0010g0249
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0018g0189
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0192
a0001c0001t0029g0136
a0001c0001t0044g0161
a0001c0001t0065g0252
a0001c0001t0093g0133
a0001c0001t0106g0253
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0068g0088
a0005c0011t0033g0139
 24 HG00735.hp1
HG01099.hp2
HG01257.hp2
others(21): Show 
HG00735.hp1
HG01099.hp2
HG01257.hp2
HG01258.hp1
HG01884.hp1
HG01952.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02622.hp2
HG02647.hp2
HG02809.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03225.hp2
HG04204.hp1
 intron_variant MODIFIER c.1620+13942G>A
c.1620+13942G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36916309
chr21:36916364 T
T
 C
C
 4 a0001c0001t0010g0249
a0001c0001t0028g0192
a0001c0001t0044g0161
others(1): Show 
a0001c0001t0010g0249
a0001c0001t0028g0192
a0001c0001t0044g0161
a0001c0004t0017g0224
 4 HG02486.hp2
HG02647.hp2
HG02922.hp1
others(1): Show 
HG02486.hp2
HG02647.hp2
HG02922.hp1
HG03139.hp1
 intron_variant MODIFIER c.1620+13887A>G
c.1620+13887A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36916364
chr21:36916517 AAT
AAT
 A
A
 10 a0001c0001t0002g0174
a0001c0001t0007g0194
a0001c0001t0009g0201
others(7): Show 
a0001c0001t0002g0174
a0001c0001t0007g0194
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0022g0187
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0004t0042g0209
a0001c0007t0012g0207
 10 HG00735.hp1
HG01106.hp1
HG01168.hp1
others(7): Show 
HG00735.hp1
HG01106.hp1
HG01168.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01884.hp1
HG02257.hp1
HG03831.hp2
NA20805.hp2
 intron_variant MODIFIER c.1620+13732_1620+13
others(8): Show 
c.1620+13732_1620+13733delAT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36916517
chr21:36916517 AATT
AATT
 A
A
 3 a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0007t0007g0200
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0007t0007g0200
 3 HG00323.hp1
HG01109.hp2
HG03669.hp1
HG00323.hp1
HG01109.hp2
HG03669.hp1
 intron_variant MODIFIER c.1620+13731_1620+13
others(9): Show 
c.1620+13731_1620+13733delAAT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36916517
chr21:36916518 A
A
 AT
AT
 20 a0001c0001t0001g0017
a0001c0001t0001g0037
a0001c0001t0001g0068
others(17): Show 
a0001c0001t0001g0017
a0001c0001t0001g0037
a0001c0001t0001g0068
a0001c0001t0002g0193
a0001c0001t0004g0138
a0001c0001t0010g0249
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0021g0130
a0001c0001t0031g0245
a0001c0001t0033g0104
a0001c0001t0034g0070
a0001c0001t0073g0246
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0097g0038
a0001c0004t0072g0248
a0001c0006t0023g0222
a0002c0002t0002g0143
a0002c0002t0025g0149
 20 HG00438.hp1
HG01175.hp1
HG02027.hp1
others(17): Show 
HG00438.hp1
HG01175.hp1
HG02027.hp1
HG02027.hp2
HG02145.hp1
HG02559.hp1
HG02572.hp1
HG02922.hp1
HG03471.hp2
HG03516.hp1
HG03540.hp1
HG03704.hp1
HG04115.hp1
HG06807.hp1
NA18967.hp2
NA18979.hp2
NA19030.hp1
NA19068.hp1
NA19088.hp1
NA19240.hp1
 intron_variant MODIFIER c.1620+13732dupA
c.1620+13732dupA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36916518
chr21:36916518 AT
AT
 A
A
 37 a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0001g0128
others(34): Show 
a0001c0001t0001g0010
a0001c0001t0001g0027
a0001c0001t0001g0128
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0226
a0001c0001t0003g0230
a0001c0001t0004g0009
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0006g0012
a0001c0001t0007g0162
a0001c0001t0011g0022
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0015g0141
a0001c0001t0018g0189
a0001c0001t0049g0233
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0078g0108
a0001c0001t0090g0005
a0001c0001t0096g0025
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0017g0220
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0018t0004g0060
a0002c0002t0015g0142
a0002c0002t0040g0242
a0002c0002t0048g0144
a0002c0002t0064g0243
a0003c0005t0092g0134
 37 HG00323.hp2
HG01070.hp1
HG01070.hp2
others(34): Show 
HG00323.hp2
HG01070.hp1
HG01070.hp2
HG01175.hp2
HG01256.hp1
HG01346.hp2
HG01952.hp2
HG02080.hp1
HG02129.hp1
HG02559.hp2
HG02622.hp1
HG02723.hp1
HG02896.hp1
HG02896.hp2
HG03041.hp1
HG03098.hp1
HG03453.hp1
HG03516.hp2
HG03704.hp2
HG03710.hp2
HG04115.hp2
HG04204.hp2
HG04228.hp2
NA18939.hp1
NA18942.hp1
NA18942.hp2
NA18947.hp2
NA18948.hp1
NA18959.hp2
NA18971.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19074.hp1
NA19084.hp1
 intron_variant MODIFIER c.1620+13732delA
c.1620+13732delA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36916518
chr21:36916518 ATT
ATT
 A
A
 11 a0001c0001t0004g0045
a0001c0001t0005g0135
a0001c0001t0006g0132
others(8): Show 
a0001c0001t0004g0045
a0001c0001t0005g0135
a0001c0001t0006g0132
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0029g0136
a0001c0001t0066g0059
a0001c0001t0093g0133
a0002c0002t0018g0153
a0002c0002t0043g0152
a0005c0011t0033g0139
 11 HG01099.hp2
HG01106.hp2
HG01257.hp2
others(8): Show 
HG01099.hp2
HG01106.hp2
HG01257.hp2
HG01258.hp1
HG02486.hp1
HG02615.hp1
HG02809.hp1
HG02976.hp1
HG02976.hp2
HG03471.hp1
NA18522.hp2
 intron_variant MODIFIER c.1620+13731_1620+13
others(8): Show 
c.1620+13731_1620+13732delAA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36916518
chr21:36916518 ATTTTTTT
others(4): Show 
ATTTTTTTTTTT
 A
A
 6 a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0041g0148
others(3): Show 
a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0041g0148
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0062g0145
 6 HG00639.hp1
HG02280.hp2
HG03139.hp2
others(3): Show 
HG00639.hp1
HG02280.hp2
HG03139.hp2
HG03209.hp2
HG03579.hp2
NA18522.hp1
 intron_variant MODIFIER c.1620+13722_1620+13
others(17): Show 
c.1620+13722_1620+13732delAAAAAAAAAAA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36916518
chr21:36916545 T
T
 A
A
 16 a0001c0001t0002g0174
a0001c0001t0006g0109
a0001c0001t0007g0194
others(13): Show 
a0001c0001t0002g0174
a0001c0001t0006g0109
a0001c0001t0007g0194
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0022g0187
a0001c0001t0032g0111
a0001c0001t0085g0110
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0004t0068g0088
a0001c0007t0007g0200
a0001c0007t0012g0207
 16 HG00323.hp1
HG01106.hp1
HG01109.hp2
others(13): Show 
HG00323.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG01884.hp1
HG01975.hp1
HG02145.hp2
HG02257.hp1
HG03195.hp2
HG03669.hp1
HG03831.hp2
HG06807.hp2
NA20805.hp2
 intron_variant MODIFIER c.1620+13706A>T
c.1620+13706A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36916545
chr21:36916648 G
G
 A
A
 3 a0001c0001t0006g0132
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0006g0132
a0001c0001t0026g0250
a0001c0001t0026g0251
 3 HG01257.hp2
HG01258.hp1
HG02976.hp1
HG01257.hp2
HG01258.hp1
HG02976.hp1
 intron_variant MODIFIER c.1620+13603C>T
c.1620+13603C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36916648
chr21:36917027 A
A
 G
G
 3 a0001c0001t0006g0132
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0006g0132
a0001c0001t0026g0250
a0001c0001t0026g0251
 3 HG01257.hp2
HG01258.hp1
HG02976.hp1
HG01257.hp2
HG01258.hp1
HG02976.hp1
 intron_variant MODIFIER c.1620+13224T>C
c.1620+13224T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36917027
chr21:36917162 C
C
 T
T
 1 a0001c0001t0044g0161
a0001c0001t0044g0161
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.1620+13089G>A
c.1620+13089G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36917162
chr21:36917179 T
T
 C
C
 3 a0001c0001t0005g0135
a0001c0001t0029g0136
a0001c0001t0093g0133
a0001c0001t0005g0135
a0001c0001t0029g0136
a0001c0001t0093g0133
 3 HG01099.hp2
HG02615.hp1
HG02809.hp1
HG01099.hp2
HG02615.hp1
HG02809.hp1
 intron_variant MODIFIER c.1620+13072A>G
c.1620+13072A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36917179
chr21:36917186 T
T
 C
C
 1 a0001c0001t0020g0002
a0001c0001t0020g0002
 1 NA19004.hp1
NA19004.hp1
 intron_variant MODIFIER c.1620+13065A>G
c.1620+13065A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36917186
chr21:36917260 C
C
 T
T
 1 a0001c0008t0008g0001
a0001c0008t0008g0001
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.1620+12991G>A
c.1620+12991G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36917260
chr21:36917534 A
A
 G
G
 1 a0001c0001t0013g0223
a0001c0001t0013g0223
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.1620+12717T>C
c.1620+12717T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36917534
chr21:36917671 T
T
 G
G
 2 a0001c0001t0004g0009
a0001c0008t0008g0001
a0001c0001t0004g0009
a0001c0008t0008g0001
 2 HG01256.hp1
HG04228.hp1
HG01256.hp1
HG04228.hp1
 intron_variant MODIFIER c.1620+12580A>C
c.1620+12580A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36917671
chr21:36917911 C
C
 T
T
 27 a0001c0001t0004g0045
a0001c0001t0005g0135
a0001c0001t0006g0132
others(24): Show 
a0001c0001t0004g0045
a0001c0001t0005g0135
a0001c0001t0006g0132
a0001c0001t0010g0249
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0018g0189
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0192
a0001c0001t0029g0136
a0001c0001t0044g0161
a0001c0001t0065g0252
a0001c0001t0093g0133
a0001c0001t0106g0253
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0041g0148
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0062g0145
a0005c0011t0033g0139
 27 HG00639.hp1
HG01099.hp2
HG01257.hp2
others(24): Show 
HG00639.hp1
HG01099.hp2
HG01257.hp2
HG01258.hp1
HG01952.hp2
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02622.hp2
HG02647.hp2
HG02809.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp2
HG03579.hp2
HG04204.hp1
NA18522.hp1
 intron_variant MODIFIER c.1620+12340G>A
c.1620+12340G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36917911
chr21:36917950 T
T
 TA
TA
 99 a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
others(96): Show 
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0003g0166
a0001c0001t0003g0184
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0113
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0101
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0136
a0001c0001t0030g0257
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0065g0252
a0001c0001t0069g0255
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0093g0133
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0106g0253
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0111g0137
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0068g0088
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0002c0002t0013g0147
a0002c0002t0045g0151
a0002c0002t0046g0150
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0009c0009t0012g0196
 99 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(96): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00735.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01952.hp2
HG01975.hp1
HG01981.hp1
HG02040.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03490.hp2
HG03492.hp2
HG03540.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04204.hp1
HG06807.hp2
NA18522.hp1
NA18612.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18959.hp1
NA18967.hp1
NA18970.hp2
NA18975.hp2
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19030.hp1
NA19030.hp2
NA19068.hp2
NA19074.hp2
NA20805.hp2
 intron_variant MODIFIER c.1620+12300dupT
c.1620+12300dupT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36917950
chr21:36917976 T
T
 C
C
 9 a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0018g0189
others(6): Show 
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0018g0189
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0065g0252
a0001c0001t0106g0253
a0001c0004t0017g0219
a0001c0004t0017g0220
 9 HG01952.hp2
HG02622.hp2
HG02896.hp1
others(6): Show 
HG01952.hp2
HG02622.hp2
HG02896.hp1
HG02897.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp2
HG04204.hp1
 intron_variant MODIFIER c.1620+12275A>G
c.1620+12275A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36917976
chr21:36918003 G
G
 A
A
 1 a0001c0001t0096g0025
a0001c0001t0096g0025
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.1620+12248C>T
c.1620+12248C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36918003
chr21:36918040 T
T
 C
C
 1 a0001c0004t0042g0209
a0001c0004t0042g0209
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.1620+12211A>G
c.1620+12211A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36918040
chr21:36918195 C
C
 T
T
 1 a0001c0001t0032g0081
a0001c0001t0032g0081
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.1620+12056G>A
c.1620+12056G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36918195
chr21:36918319 T
T
 A
A
 4 a0001c0001t0001g0006
a0001c0001t0004g0007
a0001c0001t0083g0013
others(1): Show 
a0001c0001t0001g0006
a0001c0001t0004g0007
a0001c0001t0083g0013
a0001c0001t0101g0008
 4 HG00738.hp1
HG01081.hp2
HG01243.hp2
others(1): Show 
HG00738.hp1
HG01081.hp2
HG01243.hp2
HG01516.hp1
 intron_variant MODIFIER c.1620+11932A>T
c.1620+11932A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36918319
chr21:36918521 T
T
 C
C
 1 a0001c0001t0004g0138
a0001c0001t0004g0138
 1 HG01175.hp1
HG01175.hp1
 intron_variant MODIFIER c.1620+11730A>G
c.1620+11730A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36918521
chr21:36918561 G
G
 A
A
 5 a0001c0001t0019g0247
a0001c0001t0031g0245
a0001c0001t0073g0246
others(2): Show 
a0001c0001t0019g0247
a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0004t0072g0248
a0002c0002t0025g0149
 5 HG02559.hp1
HG03471.hp2
HG03516.hp1
others(2): Show 
HG02559.hp1
HG03471.hp2
HG03516.hp1
HG06807.hp1
NA19240.hp1
 intron_variant MODIFIER c.1620+11690C>T
c.1620+11690C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36918561
chr21:36918729 A
A
 G
G
 1 a0001c0001t0053g0186
a0001c0001t0053g0186
 1 HG03927.hp2
HG03927.hp2
 intron_variant MODIFIER c.1620+11522T>C
c.1620+11522T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36918729
chr21:36918861 G
G
 C
C
 1 a0001c0001t0036g0123
a0001c0001t0036g0123
 1 NA18952.hp1
NA18952.hp1
 intron_variant MODIFIER c.1620+11390C>G
c.1620+11390C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36918861
chr21:36918880 G
G
 A
A
 2 a0001c0001t0001g0066
a0001c0001t0039g0033
a0001c0001t0001g0066
a0001c0001t0039g0033
 2 NA18993.hp1
NA19057.hp2
NA18993.hp1
NA19057.hp2
 intron_variant MODIFIER c.1620+11371C>T
c.1620+11371C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36918880
chr21:36919006 T
T
 A
A
 64 a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
others(61): Show 
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0004g0138
a0001c0001t0005g0113
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0028g0167
a0001c0001t0030g0257
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0039g0126
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0109g0119
a0001c0003t0111g0137
a0001c0013t0022g0177
a0006c0016t0001g0116
a0007c0014t0070g0131
a0009c0009t0012g0196
 64 HG00280.hp2
HG00323.hp2
HG00438.hp2
others(61): Show 
HG00280.hp2
HG00323.hp2
HG00438.hp2
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01346.hp1
HG01496.hp1
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02300.hp2
HG02523.hp2
HG02572.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03490.hp2
HG03492.hp2
HG03540.hp1
HG03669.hp2
HG03704.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG06807.hp2
NA18612.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18959.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18975.hp2
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19030.hp2
NA19068.hp2
NA19074.hp2
NA19240.hp2
 intron_variant MODIFIER c.1620+11245A>T
c.1620+11245A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36919006
chr21:36919018 T
T
 C
C
 1 a0001c0001t0102g0063
a0001c0001t0102g0063
 1 HG02135.hp1
HG02135.hp1
 intron_variant MODIFIER c.1620+11233A>G
c.1620+11233A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36919018
chr21:36919052 A
A
 T
T
 41 a0001c0001t0002g0174
a0001c0001t0004g0045
a0001c0001t0005g0135
others(38): Show 
a0001c0001t0002g0174
a0001c0001t0004g0045
a0001c0001t0005g0135
a0001c0001t0006g0132
a0001c0001t0007g0194
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0249
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0018g0189
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0192
a0001c0001t0029g0136
a0001c0001t0044g0161
a0001c0001t0065g0252
a0001c0001t0093g0133
a0001c0001t0106g0253
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0068g0088
a0001c0007t0007g0200
a0001c0007t0012g0207
a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0041g0148
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0062g0145
a0005c0011t0033g0139
 41 HG00323.hp1
HG00639.hp1
HG00735.hp1
others(38): Show 
HG00323.hp1
HG00639.hp1
HG00735.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01884.hp1
HG01952.hp2
HG02257.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02622.hp2
HG02647.hp2
HG02809.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp2
HG03579.hp2
HG03669.hp1
HG03831.hp2
HG04204.hp1
NA18522.hp1
NA20805.hp2
 intron_variant MODIFIER c.1620+11199T>A
c.1620+11199T>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36919052
chr21:36919100 C
C
 CT
CT
 20 a0001c0001t0005g0052
a0001c0001t0010g0213
a0001c0001t0015g0141
others(17): Show 
a0001c0001t0005g0052
a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0019g0061
a0001c0001t0029g0051
a0001c0001t0038g0054
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0004t0067g0067
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
 20 HG01109.hp1
HG01884.hp2
HG01891.hp1
others(17): Show 
HG01109.hp1
HG01884.hp2
HG01891.hp1
HG02145.hp1
HG02280.hp1
HG02723.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG03195.hp1
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03540.hp2
HG03579.hp1
NA19043.hp1
NA19043.hp2
NA20129.hp1
 intron_variant MODIFIER c.1620+11150_1620+11
others(7): Show 
c.1620+11150_1620+11151insA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36919100
chr21:36919307 G
G
 A
A
 1 a0001c0001t0015g0141
a0001c0001t0015g0141
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.1620+10944C>T
c.1620+10944C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36919307
chr21:36919614 T
T
 C
C
 5 a0001c0001t0019g0247
a0001c0001t0031g0245
a0001c0001t0073g0246
others(2): Show 
a0001c0001t0019g0247
a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0004t0072g0248
a0002c0002t0025g0149
 5 HG02559.hp1
HG03471.hp2
HG03516.hp1
others(2): Show 
HG02559.hp1
HG03471.hp2
HG03516.hp1
HG06807.hp1
NA19240.hp1
 intron_variant MODIFIER c.1620+10637A>G
c.1620+10637A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36919614
chr21:36919679 C
C
 T
T
 253 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(250): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 253 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(250): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1620+10572G>A
c.1620+10572G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36919679
chr21:36920043 G
G
 C
C
 1 a0001c0004t0042g0209
a0001c0004t0042g0209
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.1620+10208C>G
c.1620+10208C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36920043
chr21:36920101 G
G
 A
A
 1 a0001c0001t0059g0180
a0001c0001t0059g0180
 1 HG01070.hp1
HG01070.hp1
 intron_variant MODIFIER c.1620+10150C>T
c.1620+10150C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36920101
chr21:36920135 C
C
 T
T
 8 a0001c0001t0012g0234
a0001c0001t0018g0189
a0001c0001t0024g0191
others(5): Show 
a0001c0001t0012g0234
a0001c0001t0018g0189
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0065g0252
a0001c0001t0106g0253
a0001c0004t0017g0219
a0001c0004t0017g0220
 8 HG01952.hp2
HG02622.hp2
HG02896.hp1
others(5): Show 
HG01952.hp2
HG02622.hp2
HG02896.hp1
HG02897.hp2
HG03041.hp2
HG03098.hp2
HG03225.hp2
HG04204.hp1
 intron_variant MODIFIER c.1620+10116G>A
c.1620+10116G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36920135
chr21:36920342 G
G
 GA
GA
 5 a0001c0001t0001g0066
a0001c0001t0039g0033
a0001c0001t0097g0038
others(2): Show 
a0001c0001t0001g0066
a0001c0001t0039g0033
a0001c0001t0097g0038
a0002c0002t0025g0146
a0002c0002t0041g0148
 5 HG00639.hp1
HG02280.hp2
NA18967.hp2
others(2): Show 
HG00639.hp1
HG02280.hp2
NA18967.hp2
NA18993.hp1
NA19057.hp2
 intron_variant MODIFIER c.1620+9908dupT
c.1620+9908dupT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36920342
chr21:36920408 C
C
 T
T
 3 a0002c0002t0013g0147
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0013g0147
a0002c0002t0045g0151
a0002c0002t0046g0150
 3 HG03139.hp2
HG03579.hp2
NA18522.hp1
HG03139.hp2
HG03579.hp2
NA18522.hp1
 intron_variant MODIFIER c.1620+9843G>A
c.1620+9843G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36920408
chr21:36920494 G
G
 A
A
 1 a0001c0001t0003g0173
a0001c0001t0003g0173
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.1620+9757C>T
c.1620+9757C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36920494
chr21:36920565 A
A
 AC
AC
 8 a0001c0001t0001g0036
a0001c0001t0005g0115
a0001c0001t0011g0022
others(5): Show 
a0001c0001t0001g0036
a0001c0001t0005g0115
a0001c0001t0011g0022
a0001c0003t0050g0206
a0001c0004t0042g0209
a0001c0006t0023g0222
a0001c0007t0012g0207
a0002c0002t0048g0144
 8 HG00735.hp1
HG01255.hp2
HG01978.hp2
others(5): Show 
HG00735.hp1
HG01255.hp2
HG01978.hp2
HG02145.hp1
HG02257.hp1
HG03516.hp2
HG04115.hp2
NA18977.hp1
 intron_variant MODIFIER c.1620+9685dupG
c.1620+9685dupG
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36920565
chr21:36920678 A
A
 T
T
 105 a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
others(102): Show 
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0113
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0136
a0001c0001t0030g0257
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0065g0252
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0093g0133
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0106g0253
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0111g0137
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0068g0088
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0041g0148
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0062g0145
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0009c0009t0012g0196
 105 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(102): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00639.hp1
HG00735.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03490.hp2
HG03492.hp2
HG03540.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04204.hp1
HG06807.hp2
NA18522.hp1
NA18612.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18959.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18975.hp2
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19030.hp2
NA19068.hp2
NA19074.hp2
NA19240.hp2
NA20805.hp2
 intron_variant MODIFIER c.1620+9573T>A
c.1620+9573T>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36920678
chr21:36920690 G
G
 A
A
 7 a0001c0001t0004g0045
a0002c0002t0013g0147
a0002c0002t0025g0146
others(4): Show 
a0001c0001t0004g0045
a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0041g0148
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0062g0145
 7 HG00639.hp1
HG02280.hp2
HG02486.hp1
others(4): Show 
HG00639.hp1
HG02280.hp2
HG02486.hp1
HG03139.hp2
HG03209.hp2
HG03579.hp2
NA18522.hp1
 intron_variant MODIFIER c.1620+9561C>T
c.1620+9561C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36920690
chr21:36920732 C
C
 T
T
 2 a0001c0001t0022g0187
a0005c0011t0033g0139
a0001c0001t0022g0187
a0005c0011t0033g0139
 2 HG01884.hp1
HG02976.hp2
HG01884.hp1
HG02976.hp2
 intron_variant MODIFIER c.1620+9519G>A
c.1620+9519G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36920732
chr21:36920815 T
T
 G
G
 141 a0001c0001t0001g0010
a0001c0001t0001g0077
a0001c0001t0001g0120
others(138): Show 
a0001c0001t0001g0010
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0056
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0136
a0001c0001t0030g0257
a0001c0001t0031g0245
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0093g0133
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0106g0253
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0092g0134
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0009c0009t0012g0196
 141 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(138): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00639.hp1
HG00735.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02080.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02135.hp2
HG02145.hp2
HG02257.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19068.hp2
NA19074.hp2
NA19084.hp1
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20805.hp2
 intron_variant MODIFIER c.1620+9436A>C
c.1620+9436A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36920815
chr21:36921231 G
G
 A
A
 1 a0001c0001t0001g0028
a0001c0001t0001g0028
 1 HG02129.hp2
HG02129.hp2
 intron_variant MODIFIER c.1620+9020C>T
c.1620+9020C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36921231
chr21:36921352 G
G
 A
A
 4 a0001c0001t0010g0249
a0001c0001t0028g0192
a0001c0001t0044g0161
others(1): Show 
a0001c0001t0010g0249
a0001c0001t0028g0192
a0001c0001t0044g0161
a0001c0004t0017g0224
 4 HG02486.hp2
HG02647.hp2
HG02922.hp1
others(1): Show 
HG02486.hp2
HG02647.hp2
HG02922.hp1
HG03139.hp1
 intron_variant MODIFIER c.1620+8899C>T
c.1620+8899C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36921352
chr21:36921424 A
A
 AAC
AAC
 139 a0001c0001t0001g0010
a0001c0001t0001g0077
a0001c0001t0001g0120
others(136): Show 
a0001c0001t0001g0010
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0056
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0136
a0001c0001t0030g0257
a0001c0001t0031g0245
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0093g0133
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0106g0253
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0003c0005t0092g0134
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0009c0009t0012g0196
 139 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(136): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00639.hp1
HG00735.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01496.hp1
HG01884.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02080.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02135.hp2
HG02145.hp2
HG02257.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19068.hp2
NA19074.hp2
NA19084.hp1
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20805.hp2
 intron_variant MODIFIER c.1620+8826_1620+882
others(6): Show 
c.1620+8826_1620+8827insGT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36921424
chr21:36921467 A
A
 G
G
 5 a0001c0001t0004g0138
a0001c0001t0006g0256
a0001c0001t0030g0257
others(2): Show 
a0001c0001t0004g0138
a0001c0001t0006g0256
a0001c0001t0030g0257
a0001c0001t0037g0254
a0001c0001t0069g0255
 5 HG01175.hp1
HG02109.hp2
HG02615.hp2
others(2): Show 
HG01175.hp1
HG02109.hp2
HG02615.hp2
HG02809.hp2
HG03130.hp2
 intron_variant MODIFIER c.1620+8784T>C
c.1620+8784T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36921467
chr21:36921518 G
G
 A
A
 1 a0001c0001t0102g0063
a0001c0001t0102g0063
 1 HG02135.hp1
HG02135.hp1
 intron_variant MODIFIER c.1620+8733C>T
c.1620+8733C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36921518
chr21:36921706 G
G
 T
T
 2 a0002c0002t0040g0242
a0002c0002t0064g0243
a0002c0002t0040g0242
a0002c0002t0064g0243
 2 HG02559.hp2
HG03041.hp1
HG02559.hp2
HG03041.hp1
 intron_variant MODIFIER c.1620+8545C>A
c.1620+8545C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36921706
chr21:36921741 G
G
 T
T
 3 a0001c0001t0007g0194
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0007g0194
a0001c0001t0009g0201
a0001c0001t0009g0202
 3 HG01256.hp2
HG01258.hp2
HG03831.hp2
HG01256.hp2
HG01258.hp2
HG03831.hp2
 intron_variant MODIFIER c.1620+8510C>A
c.1620+8510C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36921741
chr21:36921876 T
T
 G
G
 4 a0001c0001t0010g0249
a0001c0001t0028g0192
a0001c0001t0044g0161
others(1): Show 
a0001c0001t0010g0249
a0001c0001t0028g0192
a0001c0001t0044g0161
a0001c0004t0017g0224
 4 HG02486.hp2
HG02647.hp2
HG02922.hp1
others(1): Show 
HG02486.hp2
HG02647.hp2
HG02922.hp1
HG03139.hp1
 intron_variant MODIFIER c.1620+8375A>C
c.1620+8375A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36921876
chr21:36922106 T
T
 A
A
 1 a0001c0004t0042g0209
a0001c0004t0042g0209
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.1620+8145A>T
c.1620+8145A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36922106
chr21:36922227 C
C
 G
G
 1 a0001c0001t0004g0045
a0001c0001t0004g0045
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.1620+8024G>C
c.1620+8024G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36922227
chr21:36922295 G
G
 T
T
 1 a0001c0001t0004g0045
a0001c0001t0004g0045
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.1620+7956C>A
c.1620+7956C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36922295
chr21:36922402 C
C
 T
T
 11 a0001c0001t0002g0174
a0001c0001t0007g0194
a0001c0001t0009g0201
others(8): Show 
a0001c0001t0002g0174
a0001c0001t0007g0194
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0003t0003g0199
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0007t0007g0200
a0001c0007t0012g0207
 11 HG00323.hp1
HG01106.hp1
HG01109.hp2
others(8): Show 
HG00323.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG02257.hp1
HG03669.hp1
HG03831.hp2
NA20805.hp2
 intron_variant MODIFIER c.1620+7849G>A
c.1620+7849G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36922402
chr21:36922566 C
C
 T
T
 1 a0001c0001t0003g0228
a0001c0001t0003g0228
 1 NA18950.hp2
NA18950.hp2
 intron_variant MODIFIER c.1620+7685G>A
c.1620+7685G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36922566
chr21:36922668 G
G
 A
A
 3 a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0003g0156
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0003g0156
 3 NA18951.hp1
NA18961.hp1
NA19088.hp1
NA18951.hp1
NA18961.hp1
NA19088.hp1
 intron_variant MODIFIER c.1620+7583C>T
c.1620+7583C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36922668
chr21:36922809 C
C
 T
T
 2 a0001c0001t0065g0252
a0001c0001t0106g0253
a0001c0001t0065g0252
a0001c0001t0106g0253
 2 HG02622.hp2
HG03041.hp2
HG02622.hp2
HG03041.hp2
 intron_variant MODIFIER c.1620+7442G>A
c.1620+7442G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36922809
chr21:36922846 A
A
 G
G
 46 a0001c0001t0001g0010
a0001c0001t0001g0079
a0001c0001t0002g0232
others(43): Show 
a0001c0001t0001g0010
a0001c0001t0001g0079
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0226
a0001c0001t0003g0230
a0001c0001t0005g0004
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0229
a0001c0001t0011g0118
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0019g0061
a0001c0001t0029g0051
a0001c0001t0038g0054
a0001c0001t0049g0233
a0001c0001t0057g0225
a0001c0001t0066g0059
a0001c0001t0081g0016
a0001c0001t0105g0053
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0067g0067
a0001c0015t0052g0239
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0027g0157
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0062g0145
a0003c0005t0092g0134
 46 HG00639.hp1
HG00639.hp2
HG01106.hp2
others(43): Show 
HG00639.hp1
HG00639.hp2
HG01106.hp2
HG01109.hp1
HG01175.hp2
HG01255.hp1
HG01361.hp2
HG01884.hp2
HG01891.hp1
HG02080.hp1
HG02080.hp2
HG02129.hp1
HG02135.hp2
HG02280.hp2
HG02602.hp1
HG02622.hp1
HG02723.hp1
HG02818.hp2
HG02922.hp2
HG03139.hp2
HG03209.hp2
HG03471.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp2
HG04115.hp2
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18942.hp1
NA18947.hp1
NA18947.hp2
NA18951.hp1
NA18959.hp2
NA18961.hp1
NA18967.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19043.hp1
NA19084.hp1
NA19088.hp1
NA20129.hp2
 intron_variant MODIFIER c.1620+7405T>C
c.1620+7405T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36922846
chr21:36922871 C
C
 T
T
 1 a0001c0001t0006g0019
a0001c0001t0006g0019
 1 NA19009.hp1
NA19009.hp1
 intron_variant MODIFIER c.1620+7380G>A
c.1620+7380G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36922871
chr21:36922885 G
G
 A
A
 1 a0001c0001t0006g0019
a0001c0001t0006g0019
 1 NA19009.hp1
NA19009.hp1
 intron_variant MODIFIER c.1620+7366C>T
c.1620+7366C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36922885
chr21:36922957 G
G
 A
A
 2 a0001c0001t0001g0040
a0001c0001t0001g0071
a0001c0001t0001g0040
a0001c0001t0001g0071
 2 HG01361.hp1
HG01952.hp1
HG01361.hp1
HG01952.hp1
 intron_variant MODIFIER c.1620+7294C>T
c.1620+7294C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36922957
chr21:36922971 G
G
 C
C
 2 a0002c0002t0040g0242
a0002c0002t0064g0243
a0002c0002t0040g0242
a0002c0002t0064g0243
 2 HG02559.hp2
HG03041.hp1
HG02559.hp2
HG03041.hp1
 intron_variant MODIFIER c.1620+7280C>G
c.1620+7280C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36922971
chr21:36923235 T
T
 C
C
 148 a0001c0001t0001g0010
a0001c0001t0001g0077
a0001c0001t0001g0120
others(145): Show 
a0001c0001t0001g0010
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0056
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0029
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0136
a0001c0001t0030g0257
a0001c0001t0031g0245
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0073g0246
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0093g0133
a0001c0001t0103g0100
a0001c0001t0106g0253
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0092g0134
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
 148 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(145): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00639.hp1
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01361.hp2
HG01496.hp1
HG01884.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02080.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19009.hp2
NA19030.hp1
NA19043.hp2
NA19068.hp2
NA19074.hp2
NA19084.hp1
NA19088.hp1
NA19240.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.1620+7016A>G
c.1620+7016A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36923235
chr21:36923398 G
G
 A
A
 2 a0001c0001t0038g0102
a0001c0001t0075g0049
a0001c0001t0038g0102
a0001c0001t0075g0049
 2 HG02109.hp1
HG02572.hp2
HG02109.hp1
HG02572.hp2
 intron_variant MODIFIER c.1620+6853C>T
c.1620+6853C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36923398
chr21:36923415 G
G
 C
C
 1 a0001c0001t0002g0160
a0001c0001t0002g0160
 1 HG03669.hp2
HG03669.hp2
 intron_variant MODIFIER c.1620+6836C>G
c.1620+6836C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36923415
chr21:36923472 G
G
 A
A
 6 a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0041g0148
others(3): Show 
a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0041g0148
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0062g0145
 6 HG00639.hp1
HG02280.hp2
HG03139.hp2
others(3): Show 
HG00639.hp1
HG02280.hp2
HG03139.hp2
HG03209.hp2
HG03579.hp2
NA18522.hp1
 intron_variant MODIFIER c.1620+6779C>T
c.1620+6779C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36923472
chr21:36923586 C
C
 T
T
 1 a0001c0001t0004g0058
a0001c0001t0004g0058
 1 HG01192.hp2
HG01192.hp2
 intron_variant MODIFIER c.1620+6665G>A
c.1620+6665G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36923586
chr21:36923647 G
G
 T
T
 1 a0001c0004t0042g0209
a0001c0004t0042g0209
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.1620+6604C>A
c.1620+6604C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36923647
chr21:36923702 A
A
 G
G
 10 a0001c0001t0007g0194
a0001c0001t0009g0201
a0001c0001t0009g0202
others(7): Show 
a0001c0001t0007g0194
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0003t0003g0199
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0007t0007g0200
a0001c0007t0012g0207
 10 HG00323.hp1
HG01106.hp1
HG01109.hp2
others(7): Show 
HG00323.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01256.hp2
HG01258.hp2
HG02257.hp1
HG03669.hp1
HG03831.hp2
NA20805.hp1
 intron_variant MODIFIER c.1620+6549T>C
c.1620+6549T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36923702
chr21:36923894 C
C
 T
T
 19 a0001c0001t0066g0059
a0001c0018t0004g0060
a0002c0002t0002g0143
others(16): Show 
a0001c0001t0066g0059
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
 19 HG00639.hp1
HG01106.hp2
HG02135.hp2
others(16): Show 
HG00639.hp1
HG01106.hp2
HG02135.hp2
HG02280.hp2
HG02559.hp2
HG02602.hp1
HG02622.hp1
HG02723.hp1
HG03041.hp1
HG03139.hp2
HG03209.hp2
HG03471.hp1
HG03516.hp2
HG03579.hp2
NA18522.hp1
NA18522.hp2
NA18951.hp1
NA18961.hp1
NA19088.hp1
 intron_variant MODIFIER c.1620+6357G>A
c.1620+6357G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36923894
chr21:36924141 C
C
 G
G
 2 a0001c0001t0002g0171
a0001c0001t0007g0170
a0001c0001t0002g0171
a0001c0001t0007g0170
 2 HG01496.hp1
HG03831.hp1
HG01496.hp1
HG03831.hp1
 intron_variant MODIFIER c.1620+6110G>C
c.1620+6110G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36924141
chr21:36924151 G
G
 A
A
 1 a0001c0001t0001g0068
a0001c0001t0001g0068
 1 HG00438.hp1
HG00438.hp1
 intron_variant MODIFIER c.1620+6100C>T
c.1620+6100C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36924151
chr21:36924230 A
A
 G
G
 1 a0002c0002t0064g0243
a0002c0002t0064g0243
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.1620+6021T>C
c.1620+6021T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36924230
chr21:36924297 T
T
 C
C
 251 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(248): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 251 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(248): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1620+5954A>G
c.1620+5954A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36924297
chr21:36924339 G
G
 C
C
 137 a0001c0001t0001g0010
a0001c0001t0001g0077
a0001c0001t0001g0120
others(134): Show 
a0001c0001t0001g0010
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0056
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0101
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0136
a0001c0001t0030g0257
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0093g0133
a0001c0001t0103g0100
a0001c0001t0106g0253
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0068g0088
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0092g0134
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
 137 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(134): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00639.hp1
HG00735.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01361.hp2
HG01496.hp1
HG01884.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02080.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02135.hp2
HG02145.hp2
HG02257.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03490.hp2
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19009.hp2
NA19030.hp1
NA19068.hp2
NA19074.hp2
NA19084.hp1
NA19088.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.1620+5912C>G
c.1620+5912C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36924339
chr21:36924484 C
C
 T
T
 1 a0001c0001t0006g0132
a0001c0001t0006g0132
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.1620+5767G>A
c.1620+5767G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36924484
chr21:36924581 C
C
 T
T
 1 a0001c0001t0107g0050
a0001c0001t0107g0050
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.1620+5670G>A
c.1620+5670G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36924581
chr21:36924630 C
C
 T
T
 1 a0006c0016t0001g0116
a0006c0016t0001g0116
 1 NA18989.hp1
NA18989.hp1
 intron_variant MODIFIER c.1620+5621G>A
c.1620+5621G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36924630
chr21:36924678 A
A
 G
G
 137 a0001c0001t0001g0010
a0001c0001t0001g0077
a0001c0001t0001g0120
others(134): Show 
a0001c0001t0001g0010
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0056
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0101
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0136
a0001c0001t0030g0257
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0093g0133
a0001c0001t0103g0100
a0001c0001t0106g0253
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0068g0088
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0092g0134
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
 137 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(134): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00639.hp1
HG00735.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01361.hp2
HG01496.hp1
HG01884.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02080.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02135.hp2
HG02145.hp2
HG02257.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03490.hp2
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19009.hp2
NA19030.hp1
NA19068.hp2
NA19074.hp2
NA19084.hp1
NA19088.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.1620+5573T>C
c.1620+5573T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36924678
chr21:36924679 T
T
 C
C
 2 a0001c0001t0011g0022
a0001c0001t0110g0023
a0001c0001t0011g0022
a0001c0001t0110g0023
 2 NA18968.hp1
NA18977.hp1
NA18968.hp1
NA18977.hp1
 intron_variant MODIFIER c.1620+5572A>G
c.1620+5572A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36924679
chr21:36924706 G
G
 T
T
 3 a0002c0002t0018g0153
a0002c0002t0043g0152
a0002c0002t0048g0144
a0002c0002t0018g0153
a0002c0002t0043g0152
a0002c0002t0048g0144
 3 HG03471.hp1
HG03516.hp2
NA18522.hp2
HG03471.hp1
HG03516.hp2
NA18522.hp2
 intron_variant MODIFIER c.1620+5545C>A
c.1620+5545C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36924706
chr21:36924977 T
T
 A
A
 19 a0001c0001t0066g0059
a0001c0018t0004g0060
a0002c0002t0002g0143
others(16): Show 
a0001c0001t0066g0059
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
 19 HG00639.hp1
HG01106.hp2
HG02135.hp2
others(16): Show 
HG00639.hp1
HG01106.hp2
HG02135.hp2
HG02280.hp2
HG02559.hp2
HG02602.hp1
HG02622.hp1
HG02723.hp1
HG03041.hp1
HG03139.hp2
HG03209.hp2
HG03471.hp1
HG03516.hp2
HG03579.hp2
NA18522.hp1
NA18522.hp2
NA18951.hp1
NA18961.hp1
NA19088.hp1
 intron_variant MODIFIER c.1620+5274A>T
c.1620+5274A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36924977
chr21:36925248 C
C
 T
T
 130 a0001c0001t0001g0010
a0001c0001t0001g0077
a0001c0001t0001g0120
others(127): Show 
a0001c0001t0001g0010
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0005g0056
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0101
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0030g0257
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0103g0100
a0001c0001t0106g0253
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0068g0088
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0092g0134
a0006c0016t0001g0116
a0007c0014t0070g0131
 130 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(127): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00639.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01361.hp2
HG01496.hp1
HG01884.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02080.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02135.hp2
HG02145.hp2
HG02257.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp2
HG02523.hp2
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03490.hp2
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19009.hp2
NA19030.hp1
NA19068.hp2
NA19074.hp2
NA19084.hp1
NA19088.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.1620+5003G>A
c.1620+5003G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36925248
chr21:36925350 G
G
 A
A
 117 a0001c0001t0001g0010
a0001c0001t0001g0077
a0001c0001t0001g0120
others(114): Show 
a0001c0001t0001g0010
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0056
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0101
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0136
a0001c0001t0030g0257
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0065g0252
a0001c0001t0069g0255
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0093g0133
a0001c0001t0103g0100
a0001c0001t0106g0253
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0068g0088
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0003c0005t0092g0134
a0006c0016t0001g0116
a0007c0014t0070g0131
 117 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(114): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00735.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01361.hp2
HG01496.hp1
HG01884.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02080.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02145.hp2
HG02257.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03490.hp2
HG03492.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18947.hp2
NA18950.hp2
NA18951.hp2
NA18959.hp1
NA18959.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19009.hp2
NA19030.hp1
NA19068.hp2
NA19074.hp2
NA19084.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.1620+4901C>T
c.1620+4901C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36925350
chr21:36925360 G
G
 A
A
 1 a0001c0004t0042g0209
a0001c0004t0042g0209
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.1620+4891C>T
c.1620+4891C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36925360
chr21:36925445 C
C
 T
T
 2 a0001c0001t0005g0021
a0001c0010t0011g0020
a0001c0001t0005g0021
a0001c0010t0011g0020
 2 NA18950.hp1
NA18970.hp1
NA18950.hp1
NA18970.hp1
 intron_variant MODIFIER c.1620+4806G>A
c.1620+4806G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36925445
chr21:36925480 C
C
 T
T
 1 a0002c0002t0002g0143
a0002c0002t0002g0143
 1 NA19088.hp1
NA19088.hp1
 intron_variant MODIFIER c.1620+4771G>A
c.1620+4771G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36925480
chr21:36925876 A
A
 T
T
 19 a0001c0001t0066g0059
a0001c0018t0004g0060
a0002c0002t0002g0143
others(16): Show 
a0001c0001t0066g0059
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
 19 HG00639.hp1
HG01106.hp2
HG02135.hp2
others(16): Show 
HG00639.hp1
HG01106.hp2
HG02135.hp2
HG02280.hp2
HG02559.hp2
HG02602.hp1
HG02622.hp1
HG02723.hp1
HG03041.hp1
HG03139.hp2
HG03209.hp2
HG03471.hp1
HG03516.hp2
HG03579.hp2
NA18522.hp1
NA18522.hp2
NA18951.hp1
NA18961.hp1
NA19088.hp1
 intron_variant MODIFIER c.1620+4375T>A
c.1620+4375T>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36925876
chr21:36925877 T
T
 A
A
 19 a0001c0001t0066g0059
a0001c0018t0004g0060
a0002c0002t0002g0143
others(16): Show 
a0001c0001t0066g0059
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
 19 HG00639.hp1
HG01106.hp2
HG02135.hp2
others(16): Show 
HG00639.hp1
HG01106.hp2
HG02135.hp2
HG02280.hp2
HG02559.hp2
HG02602.hp1
HG02622.hp1
HG02723.hp1
HG03041.hp1
HG03139.hp2
HG03209.hp2
HG03471.hp1
HG03516.hp2
HG03579.hp2
NA18522.hp1
NA18522.hp2
NA18951.hp1
NA18961.hp1
NA19088.hp1
 intron_variant MODIFIER c.1620+4374A>T
c.1620+4374A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36925877
chr21:36925991 T
T
 A
A
 1 a0005c0011t0033g0139
a0005c0011t0033g0139
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.1620+4260A>T
c.1620+4260A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36925991
chr21:36926024 C
C
 T
T
 55 a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
others(52): Show 
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0005g0113
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0028g0167
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0039g0126
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0103g0100
a0001c0001t0109g0119
a0001c0013t0022g0177
a0006c0016t0001g0116
a0007c0014t0070g0131
 55 HG00280.hp2
HG00323.hp2
HG00438.hp2
others(52): Show 
HG00280.hp2
HG00323.hp2
HG00438.hp2
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG01346.hp1
HG01496.hp1
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02083.hp2
HG02145.hp2
HG02300.hp2
HG02523.hp2
HG02683.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG03130.hp1
HG03225.hp1
HG03490.hp2
HG03492.hp2
HG03540.hp1
HG03669.hp2
HG03704.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG06807.hp2
NA18612.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18951.hp2
NA18959.hp1
NA18968.hp2
NA18970.hp2
NA18975.hp2
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19068.hp2
NA19074.hp2
NA20805.hp2
 intron_variant MODIFIER c.1620+4227G>A
c.1620+4227G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36926024
chr21:36926080 C
C
 A
A
 251 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(248): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 251 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(248): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1620+4171G>T
c.1620+4171G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36926080
chr21:36926231 G
G
 A
A
 8 a0001c0001t0005g0052
a0001c0001t0019g0061
a0001c0001t0029g0051
others(5): Show 
a0001c0001t0005g0052
a0001c0001t0019g0061
a0001c0001t0029g0051
a0001c0001t0038g0054
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0004t0067g0067
a0009c0009t0012g0196
 8 HG01109.hp1
HG01884.hp2
HG01891.hp1
others(5): Show 
HG01109.hp1
HG01884.hp2
HG01891.hp1
HG02647.hp1
HG02818.hp2
HG02922.hp2
HG03453.hp2
NA19043.hp1
 intron_variant MODIFIER c.1620+4020C>T
c.1620+4020C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36926231
chr21:36926319 C
C
 A
A
 117 a0001c0001t0001g0010
a0001c0001t0001g0077
a0001c0001t0001g0120
others(114): Show 
a0001c0001t0001g0010
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0056
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0101
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0136
a0001c0001t0030g0257
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0065g0252
a0001c0001t0069g0255
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0093g0133
a0001c0001t0103g0100
a0001c0001t0106g0253
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0003c0005t0092g0134
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
 117 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(114): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00735.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01361.hp2
HG01496.hp1
HG01884.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02080.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02145.hp2
HG02257.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03490.hp2
HG03492.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18947.hp2
NA18950.hp2
NA18951.hp2
NA18959.hp1
NA18959.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19009.hp2
NA19030.hp1
NA19068.hp2
NA19074.hp2
NA19084.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.1620+3932G>T
c.1620+3932G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36926319
chr21:36926345 C
C
 T
T
 1 a0001c0001t0001g0079
a0001c0001t0001g0079
 1 HG00639.hp2
HG00639.hp2
 intron_variant MODIFIER c.1620+3906G>A
c.1620+3906G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36926345
chr21:36926563 A
A
 T
T
 1 a0005c0011t0033g0139
a0005c0011t0033g0139
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.1620+3688T>A
c.1620+3688T>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36926563
chr21:36926692 C
C
 T
T
 1 a0001c0001t0001g0120
a0001c0001t0001g0120
 1 HG02083.hp2
HG02083.hp2
 intron_variant MODIFIER c.1620+3559G>A
c.1620+3559G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36926692
chr21:36926716 C
C
 A
A
 110 a0001c0001t0001g0010
a0001c0001t0001g0077
a0001c0001t0001g0120
others(107): Show 
a0001c0001t0001g0010
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0005g0056
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0101
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0030g0257
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0065g0252
a0001c0001t0069g0255
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0103g0100
a0001c0001t0106g0253
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0003c0005t0092g0134
a0006c0016t0001g0116
a0007c0014t0070g0131
 110 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(107): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01361.hp2
HG01496.hp1
HG01884.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02080.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02145.hp2
HG02257.hp1
HG02300.hp2
HG02486.hp2
HG02523.hp2
HG02615.hp2
HG02622.hp2
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03490.hp2
HG03492.hp2
HG03540.hp1
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18947.hp2
NA18950.hp2
NA18951.hp2
NA18959.hp1
NA18959.hp2
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19009.hp2
NA19030.hp1
NA19068.hp2
NA19074.hp2
NA19084.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.1620+3535G>T
c.1620+3535G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36926716
chr21:36926741 C
C
 CT
CT
 73 a0001c0001t0001g0006
a0001c0001t0001g0011
a0001c0001t0001g0017
others(70): Show 
a0001c0001t0001g0006
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0011g0022
a0001c0001t0014g0241
a0001c0001t0016g0047
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0034g0030
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0053g0186
a0001c0001t0075g0049
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0110g0023
a0001c0004t0004g0046
a0001c0008t0008g0001
a0001c0010t0011g0020
a0004c0019t0112g0258
a0006c0016t0001g0116
 73 HG00280.hp1
HG00438.hp1
HG00639.hp2
others(70): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp2
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01123.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02300.hp1
HG02486.hp1
HG02523.hp1
HG02572.hp2
HG02602.hp2
HG02683.hp1
HG02717.hp1
HG02818.hp1
HG03098.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03704.hp1
HG03710.hp1
HG03927.hp2
HG04204.hp2
HG04228.hp1
NA18940.hp2
NA18941.hp1
NA18944.hp2
NA18945.hp1
NA18948.hp1
NA18950.hp1
NA18952.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18989.hp1
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp2
NA19057.hp2
NA19068.hp1
NA19074.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1620+3509dupA
c.1620+3509dupA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36926741
chr21:36926741 CT
CT
 C
C
 7 a0001c0001t0001g0010
a0001c0001t0039g0126
a0001c0001t0059g0180
others(4): Show 
a0001c0001t0001g0010
a0001c0001t0039g0126
a0001c0001t0059g0180
a0001c0004t0017g0219
a0002c0002t0002g0154
a0002c0002t0040g0242
a0002c0002t0064g0243
 7 HG01070.hp1
HG02559.hp2
HG02897.hp2
others(4): Show 
HG01070.hp1
HG02559.hp2
HG02897.hp2
HG03041.hp1
NA18941.hp2
NA18951.hp1
NA18959.hp2
 intron_variant MODIFIER c.1620+3509delA
c.1620+3509delA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36926741
chr21:36926876 A
A
 G
G
 230 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(227): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0073g0246
a0001c0001t0075g0049
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0009c0009t0012g0196
 230 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(227): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01515.hp1
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02040.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18945.hp1
NA18945.hp2
NA18947.hp2
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19088.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1620+3375T>C
c.1620+3375T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36926876
chr21:36926903 T
T
 C
C
 2 a0002c0002t0040g0242
a0002c0002t0064g0243
a0002c0002t0040g0242
a0002c0002t0064g0243
 2 HG02559.hp2
HG03041.hp1
HG02559.hp2
HG03041.hp1
 intron_variant MODIFIER c.1620+3348A>G
c.1620+3348A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36926903
chr21:36927180 C
C
 T
T
 2 a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0002g0195
a0003c0005t0027g0218
 2 HG03579.hp1
NA20129.hp1
HG03579.hp1
NA20129.hp1
 intron_variant MODIFIER c.1620+3071G>A
c.1620+3071G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36927180
chr21:36927251 C
C
 T
T
 1 a0005c0011t0033g0139
a0005c0011t0033g0139
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.1620+3000G>A
c.1620+3000G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36927251
chr21:36927415 A
A
 G
G
 136 a0001c0001t0001g0010
a0001c0001t0001g0077
a0001c0001t0001g0120
others(133): Show 
a0001c0001t0001g0010
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0056
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0101
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0136
a0001c0001t0030g0257
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0093g0133
a0001c0001t0103g0100
a0001c0001t0106g0253
a0001c0001t0109g0119
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0111g0137
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0092g0134
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
 136 HG00280.hp2
HG00323.hp1
HG00323.hp2
others(133): Show 
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp2
HG00639.hp1
HG00735.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01361.hp2
HG01496.hp1
HG01884.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02080.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02135.hp2
HG02145.hp2
HG02257.hp1
HG02280.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03490.hp2
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp2
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18945.hp2
NA18947.hp2
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18967.hp1
NA18968.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA18989.hp1
NA18993.hp2
NA19004.hp2
NA19009.hp2
NA19030.hp1
NA19068.hp2
NA19074.hp2
NA19084.hp1
NA19088.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.1620+2836T>C
c.1620+2836T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36927415
chr21:36927443 C
C
 T
T
 1 a0001c0001t0001g0041
a0001c0001t0001g0041
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.1620+2808G>A
c.1620+2808G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36927443
chr21:36927524 C
C
 G
G
 1 a0001c0001t0011g0103
a0001c0001t0011g0103
 1 NA18975.hp2
NA18975.hp2
 intron_variant MODIFIER c.1620+2727G>C
c.1620+2727G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36927524
chr21:36927596 G
G
 A
A
 4 a0001c0001t0006g0132
a0001c0001t0013g0223
a0001c0001t0026g0250
others(1): Show 
a0001c0001t0006g0132
a0001c0001t0013g0223
a0001c0001t0026g0250
a0001c0001t0026g0251
 4 HG01257.hp2
HG01258.hp1
HG02976.hp1
others(1): Show 
HG01257.hp2
HG01258.hp1
HG02976.hp1
HG03098.hp1
 intron_variant MODIFIER c.1620+2655C>T
c.1620+2655C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36927596
chr21:36927658 A
A
 G
G
 1 a0005c0011t0033g0139
a0005c0011t0033g0139
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.1620+2593T>C
c.1620+2593T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36927658
chr21:36927674 G
G
 T
T
 1 a0001c0001t0018g0176
a0001c0001t0018g0176
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.1620+2577C>A
c.1620+2577C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36927674
chr21:36927858 C
C
 G
G
 4 a0001c0001t0006g0132
a0001c0001t0013g0223
a0001c0001t0026g0250
others(1): Show 
a0001c0001t0006g0132
a0001c0001t0013g0223
a0001c0001t0026g0250
a0001c0001t0026g0251
 4 HG01257.hp2
HG01258.hp1
HG02976.hp1
others(1): Show 
HG01257.hp2
HG01258.hp1
HG02976.hp1
HG03098.hp1
 intron_variant MODIFIER c.1620+2393G>C
c.1620+2393G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36927858
chr21:36927890 C
C
 A
A
 1 a0001c0001t0006g0132
a0001c0001t0006g0132
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.1620+2361G>T
c.1620+2361G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36927890
chr21:36927919 A
A
 G
G
 161 a0001c0001t0001g0006
a0001c0001t0001g0011
a0001c0001t0001g0017
others(158): Show 
a0001c0001t0001g0006
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0002g0193
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0125
a0001c0001t0006g0256
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0084
a0001c0001t0010g0213
a0001c0001t0011g0022
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0008c0012t0035g0069
a0009c0009t0012g0196
 161 HG00280.hp1
HG00438.hp1
HG00639.hp1
others(158): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1620+2332T>C
c.1620+2332T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36927919
chr21:36927943 G
G
 A
A
 1 a0001c0001t0001g0077
a0001c0001t0001g0077
 1 NA18959.hp1
NA18959.hp1
 intron_variant MODIFIER c.1620+2308C>T
c.1620+2308C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36927943
chr21:36928076 A
A
 C
C
 1 a0005c0011t0033g0139
a0005c0011t0033g0139
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.1620+2175T>G
c.1620+2175T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36928076
chr21:36928105 G
G
 A
A
 1 a0001c0004t0042g0209
a0001c0004t0042g0209
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.1620+2146C>T
c.1620+2146C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36928105
chr21:36928263 C
C
 A
A
 1 a0001c0001t0010g0249
a0001c0001t0010g0249
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.1620+1988G>T
c.1620+1988G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36928263
chr21:36928327 G
G
 A
A
 2 a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0004g0045
a0001c0001t0004g0138
 2 HG01175.hp1
HG02486.hp1
HG01175.hp1
HG02486.hp1
 intron_variant MODIFIER c.1620+1924C>T
c.1620+1924C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36928327
chr21:36928405 C
C
 T
T
 27 a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0002g0193
others(24): Show 
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0002g0193
a0001c0001t0005g0086
a0001c0001t0006g0085
a0001c0001t0006g0125
a0001c0001t0008g0084
a0001c0001t0011g0118
a0001c0001t0016g0091
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0032g0081
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0071g0089
a0001c0001t0074g0087
a0001c0001t0076g0090
a0001c0001t0080g0093
a0001c0001t0087g0095
a0001c0001t0095g0117
a0001c0001t0099g0124
a0001c0001t0104g0114
a0001c0004t0068g0088
a0008c0012t0035g0069
 27 HG00673.hp1
HG00735.hp2
HG01123.hp1
others(24): Show 
HG00673.hp1
HG00735.hp2
HG01123.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01891.hp2
HG02027.hp2
HG02040.hp2
HG02257.hp2
HG02572.hp1
HG03195.hp2
NA18612.hp1
NA18940.hp1
NA18944.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp2
NA19030.hp2
NA19057.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp2
 intron_variant MODIFIER c.1620+1846G>A
c.1620+1846G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36928405
chr21:36928434 G
G
 A
A
 2 a0001c0001t0006g0019
a0001c0001t0094g0031
a0001c0001t0006g0019
a0001c0001t0094g0031
 2 NA18941.hp1
NA19009.hp1
NA18941.hp1
NA19009.hp1
 intron_variant MODIFIER c.1620+1817C>T
c.1620+1817C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36928434
chr21:36928904 C
C
 T
T
 1 a0001c0001t0091g0042
a0001c0001t0091g0042
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.1620+1347G>A
c.1620+1347G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36928904
chr21:36929136 C
C
 T
T
 21 a0001c0001t0005g0052
a0001c0001t0010g0213
a0001c0001t0015g0141
others(18): Show 
a0001c0001t0005g0052
a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0019g0061
a0001c0001t0029g0051
a0001c0001t0038g0054
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0004t0067g0067
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0009c0009t0012g0196
 21 HG01109.hp1
HG01884.hp2
HG01891.hp1
others(18): Show 
HG01109.hp1
HG01884.hp2
HG01891.hp1
HG02145.hp1
HG02280.hp1
HG02647.hp1
HG02723.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG03195.hp1
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03540.hp2
HG03579.hp1
NA19043.hp1
NA19043.hp2
NA20129.hp1
 intron_variant MODIFIER c.1620+1115G>A
c.1620+1115G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36929136
chr21:36929331 C
C
 T
T
 20 a0001c0001t0026g0250
a0001c0001t0026g0251
a0002c0002t0002g0143
others(17): Show 
a0001c0001t0026g0250
a0001c0001t0026g0251
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0005c0011t0033g0139
 20 HG00639.hp1
HG01257.hp2
HG01258.hp1
others(17): Show 
HG00639.hp1
HG01257.hp2
HG01258.hp1
HG02135.hp2
HG02280.hp2
HG02559.hp2
HG02602.hp1
HG02723.hp1
HG02976.hp2
HG03041.hp1
HG03139.hp2
HG03209.hp2
HG03471.hp1
HG03516.hp2
HG03579.hp2
NA18522.hp1
NA18522.hp2
NA18951.hp1
NA18961.hp1
NA19088.hp1
 intron_variant MODIFIER c.1620+920G>A
c.1620+920G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36929331
chr21:36929343 T
T
 C
C
 6 a0001c0001t0007g0194
a0001c0001t0009g0201
a0001c0001t0009g0202
others(3): Show 
a0001c0001t0007g0194
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0003t0003g0199
a0001c0003t0007g0210
a0001c0003t0050g0206
 6 HG01255.hp2
HG01256.hp2
HG01258.hp2
others(3): Show 
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG03669.hp1
HG03831.hp2
NA20805.hp1
 intron_variant MODIFIER c.1620+908A>G
c.1620+908A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36929343
chr21:36929724 C
C
 T
T
 4 a0001c0001t0006g0132
a0001c0001t0013g0223
a0001c0001t0026g0250
others(1): Show 
a0001c0001t0006g0132
a0001c0001t0013g0223
a0001c0001t0026g0250
a0001c0001t0026g0251
 4 HG01257.hp2
HG01258.hp1
HG02976.hp1
others(1): Show 
HG01257.hp2
HG01258.hp1
HG02976.hp1
HG03098.hp1
 intron_variant MODIFIER c.1620+527G>A
c.1620+527G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36929724
chr21:36929789 G
G
 A
A
 17 a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
others(14): Show 
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
 17 HG00639.hp1
HG02135.hp2
HG02280.hp2
others(14): Show 
HG00639.hp1
HG02135.hp2
HG02280.hp2
HG02559.hp2
HG02602.hp1
HG02723.hp1
HG03041.hp1
HG03139.hp2
HG03209.hp2
HG03471.hp1
HG03516.hp2
HG03579.hp2
NA18522.hp1
NA18522.hp2
NA18951.hp1
NA18961.hp1
NA19088.hp1
 intron_variant MODIFIER c.1620+462C>T
c.1620+462C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36929789
chr21:36929829 C
C
 T
T
 21 a0001c0001t0001g0010
a0001c0001t0002g0232
a0001c0001t0002g0237
others(18): Show 
a0001c0001t0001g0010
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0229
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0019g0101
a0001c0001t0049g0233
a0001c0001t0057g0225
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0015t0052g0239
 21 HG01255.hp1
HG01361.hp2
HG02080.hp1
others(18): Show 
HG01255.hp1
HG01361.hp2
HG02080.hp1
HG02129.hp1
HG03710.hp2
HG04115.hp2
HG04228.hp2
NA18939.hp1
NA18942.hp1
NA18947.hp2
NA18950.hp2
NA18959.hp2
NA18967.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19030.hp1
NA19084.hp1
NA20129.hp2
 intron_variant MODIFIER c.1620+422G>A
c.1620+422G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36929829
chr21:36929840 C
C
 T
T
 17 a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
others(14): Show 
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
 17 HG00639.hp1
HG02135.hp2
HG02280.hp2
others(14): Show 
HG00639.hp1
HG02135.hp2
HG02280.hp2
HG02559.hp2
HG02602.hp1
HG02723.hp1
HG03041.hp1
HG03139.hp2
HG03209.hp2
HG03471.hp1
HG03516.hp2
HG03579.hp2
NA18522.hp1
NA18522.hp2
NA18951.hp1
NA18961.hp1
NA19088.hp1
 intron_variant MODIFIER c.1620+411G>A
c.1620+411G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36929840
chr21:36929925 G
G
 A
A
 123 a0001c0001t0001g0006
a0001c0001t0001g0011
a0001c0001t0001g0017
others(120): Show 
a0001c0001t0001g0006
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0002g0193
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0058
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0125
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0084
a0001c0001t0010g0213
a0001c0001t0011g0022
a0001c0001t0011g0118
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0019g0061
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0025g0149
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0004c0019t0112g0258
a0008c0012t0035g0069
a0009c0009t0012g0196
 123 HG00280.hp1
HG00438.hp1
HG00639.hp2
others(120): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02300.hp1
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18612.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18952.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1620+326C>T
c.1620+326C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36929925
chr21:36930161 C
C
 G
G
 17 a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
others(14): Show 
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
 17 HG00639.hp1
HG02135.hp2
HG02280.hp2
others(14): Show 
HG00639.hp1
HG02135.hp2
HG02280.hp2
HG02559.hp2
HG02602.hp1
HG02723.hp1
HG03041.hp1
HG03139.hp2
HG03209.hp2
HG03471.hp1
HG03516.hp2
HG03579.hp2
NA18522.hp1
NA18522.hp2
NA18951.hp1
NA18961.hp1
NA19088.hp1
 intron_variant MODIFIER c.1620+90G>C
c.1620+90G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36930161
chr21:36930198 T
T
 C
C
 2 a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0002g0195
a0003c0005t0027g0218
 2 HG03579.hp1
NA20129.hp1
HG03579.hp1
NA20129.hp1
 intron_variant MODIFIER c.1620+53A>G
c.1620+53A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36930198
chr21:36930243 CA
CA
 C
C
 11 a0001c0001t0007g0194
a0001c0001t0009g0201
a0001c0001t0009g0202
others(8): Show 
a0001c0001t0007g0194
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0003t0003g0199
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0007t0007g0200
a0001c0007t0012g0207
 11 HG00323.hp1
HG01106.hp1
HG01109.hp2
others(8): Show 
HG00323.hp1
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp2
HG02257.hp1
HG03669.hp1
HG03831.hp2
NA20805.hp1
 splice_region_variant&intron_variant LOW c.1620+7delT
c.1620+7delT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 5/10 chr21 36930243
chr21:36930469 C
C
 T
T
 123 a0001c0001t0001g0006
a0001c0001t0001g0011
a0001c0001t0001g0017
others(120): Show 
a0001c0001t0001g0006
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0002g0193
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0058
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0125
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0084
a0001c0001t0010g0213
a0001c0001t0011g0022
a0001c0001t0011g0118
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0019g0061
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0025g0149
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0004c0019t0112g0258
a0008c0012t0035g0069
a0009c0009t0012g0196
 123 HG00280.hp1
HG00438.hp1
HG00639.hp2
others(120): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02300.hp1
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18612.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18952.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1438-36G>A
c.1438-36G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/10 chr21 36930469
chr21:36930501 T
T
 C
C
 19 a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
others(16): Show 
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0005g0113
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0035g0097
a0001c0001t0039g0126
a0001c0001t0059g0180
a0001c0001t0078g0108
a0001c0001t0082g0112
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0103g0100
a0006c0016t0001g0116
 19 HG00438.hp2
HG01070.hp1
HG01071.hp1
others(16): Show 
HG00438.hp2
HG01070.hp1
HG01071.hp1
HG01346.hp1
HG01981.hp1
HG02040.hp1
HG02083.hp2
HG02523.hp2
HG03927.hp1
NA18612.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp2
NA18945.hp2
NA18959.hp1
NA18970.hp2
NA18975.hp2
NA18989.hp1
NA19074.hp2
 intron_variant MODIFIER c.1438-68A>G
c.1438-68A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/10 chr21 36930501
chr21:36930582 C
C
 T
T
 3 a0001c0001t0018g0176
a0001c0001t0051g0168
a0001c0013t0022g0177
a0001c0001t0018g0176
a0001c0001t0051g0168
a0001c0013t0022g0177
 3 HG02886.hp2
HG02896.hp2
HG03130.hp1
HG02886.hp2
HG02896.hp2
HG03130.hp1
 intron_variant MODIFIER c.1438-149G>A
c.1438-149G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/10 chr21 36930582
chr21:36930583 G
G
 A
A
 123 a0001c0001t0001g0006
a0001c0001t0001g0011
a0001c0001t0001g0017
others(120): Show 
a0001c0001t0001g0006
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0002g0193
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0058
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0125
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0084
a0001c0001t0010g0213
a0001c0001t0011g0022
a0001c0001t0011g0118
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0019g0061
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0025g0149
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0004c0019t0112g0258
a0008c0012t0035g0069
a0009c0009t0012g0196
 123 HG00280.hp1
HG00438.hp1
HG00639.hp2
others(120): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02300.hp1
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18612.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18952.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1438-150C>T
c.1438-150C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/10 chr21 36930583
chr21:36930688 C
C
 T
T
 1 a0005c0011t0033g0139
a0005c0011t0033g0139
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.1438-255G>A
c.1438-255G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/10 chr21 36930688
chr21:36930704 A
A
 G
G
 1 a0001c0001t0022g0187
a0001c0001t0022g0187
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.1438-271T>C
c.1438-271T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/10 chr21 36930704
chr21:36930831 A
A
 G
G
 1 a0001c0001t0011g0118
a0001c0001t0011g0118
 1 NA18947.hp1
NA18947.hp1
 intron_variant MODIFIER c.1438-398T>C
c.1438-398T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/10 chr21 36930831
chr21:36930894 A
A
 G
G
 1 a0001c0004t0042g0209
a0001c0004t0042g0209
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.1438-461T>C
c.1438-461T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/10 chr21 36930894
chr21:36930944 A
A
 G
G
 1 a0001c0004t0042g0209
a0001c0004t0042g0209
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.1438-511T>C
c.1438-511T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/10 chr21 36930944
chr21:36930963 G
G
 A
A
 6 a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
others(3): Show 
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0015g0142
a0002c0002t0027g0157
 6 HG02135.hp2
HG02602.hp1
HG02723.hp1
others(3): Show 
HG02135.hp2
HG02602.hp1
HG02723.hp1
NA18951.hp1
NA18961.hp1
NA19088.hp1
 intron_variant MODIFIER c.1438-530C>T
c.1438-530C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/10 chr21 36930963
chr21:36931074 G
G
 A
A
 1 a0005c0011t0033g0139
a0005c0011t0033g0139
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.1438-641C>T
c.1438-641C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/10 chr21 36931074
chr21:36931156 G
G
 A
A
 123 a0001c0001t0001g0006
a0001c0001t0001g0011
a0001c0001t0001g0017
others(120): Show 
a0001c0001t0001g0006
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0002g0193
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0058
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0125
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0084
a0001c0001t0010g0213
a0001c0001t0011g0022
a0001c0001t0011g0118
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0019g0061
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0025g0149
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0004c0019t0112g0258
a0008c0012t0035g0069
a0009c0009t0012g0196
 123 HG00280.hp1
HG00438.hp1
HG00639.hp2
others(120): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02300.hp1
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18612.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18952.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1438-723C>T
c.1438-723C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/10 chr21 36931156
chr21:36931283 C
C
 CA
CA
 33 a0001c0001t0001g0010
a0001c0001t0002g0237
a0001c0001t0002g0238
others(30): Show 
a0001c0001t0001g0010
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0175
a0001c0001t0003g0226
a0001c0001t0003g0230
a0001c0001t0005g0056
a0001c0001t0005g0115
a0001c0001t0008g0078
a0001c0001t0009g0235
a0001c0001t0010g0249
a0001c0001t0012g0234
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0019g0101
a0001c0001t0022g0187
a0001c0001t0026g0251
a0001c0001t0028g0192
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0049g0233
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0109g0119
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0017g0219
a0001c0004t0017g0224
a0001c0013t0022g0177
a0001c0015t0052g0239
a0003c0005t0092g0134
a0006c0016t0001g0116
a0007c0014t0070g0131
 33 HG00741.hp1
HG01175.hp2
HG01255.hp1
others(30): Show 
HG00741.hp1
HG01175.hp2
HG01255.hp1
HG01257.hp2
HG01884.hp1
HG02080.hp1
HG02129.hp1
HG02486.hp2
HG02647.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG03139.hp1
HG03492.hp2
HG03710.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp1
HG04228.hp2
NA18939.hp1
NA18941.hp2
NA18942.hp1
NA18947.hp2
NA18951.hp2
NA18959.hp2
NA18977.hp2
NA18984.hp1
NA18989.hp1
NA19030.hp1
NA19084.hp1
NA20129.hp2
 intron_variant MODIFIER c.1438-851dupT
c.1438-851dupT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/10 chr21 36931283
chr21:36931283 C
C
 CAA
CAA
 6 a0001c0001t0002g0232
a0001c0001t0003g0228
a0001c0001t0009g0236
others(3): Show 
a0001c0001t0002g0232
a0001c0001t0003g0228
a0001c0001t0009g0236
a0001c0001t0010g0229
a0001c0001t0057g0225
a0001c0003t0003g0204
 6 HG01361.hp2
NA18950.hp2
NA18967.hp1
others(3): Show 
HG01361.hp2
NA18950.hp2
NA18967.hp1
NA18971.hp2
NA18979.hp1
NA19009.hp2
 intron_variant MODIFIER c.1438-852_1438-851d
others(4): Show 
c.1438-852_1438-851dupTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/10 chr21 36931283
chr21:36931283 CAA
CAA
 C
C
 21 a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0135
others(18): Show 
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0135
a0001c0001t0029g0136
a0001c0001t0093g0133
a0001c0004t0042g0209
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0062g0145
a0002c0002t0064g0243
 21 HG00639.hp1
HG00735.hp1
HG01099.hp2
others(18): Show 
HG00639.hp1
HG00735.hp1
HG01099.hp2
HG01175.hp1
HG02135.hp2
HG02280.hp2
HG02486.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02723.hp1
HG02809.hp1
HG03041.hp1
HG03139.hp2
HG03209.hp2
HG03579.hp2
HG06807.hp1
NA18522.hp1
NA18951.hp1
NA18961.hp1
NA19088.hp1
 intron_variant MODIFIER c.1438-852_1438-851d
others(4): Show 
c.1438-852_1438-851delTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/10 chr21 36931283
chr21:36931283 CAAAAA
CAAAAA
 C
C
 22 a0001c0001t0001g0006
a0001c0001t0001g0062
a0001c0001t0004g0007
others(19): Show 
a0001c0001t0001g0006
a0001c0001t0001g0062
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0005g0052
a0001c0001t0005g0094
a0001c0001t0019g0061
a0001c0001t0021g0129
a0001c0001t0029g0051
a0001c0001t0038g0054
a0001c0001t0080g0093
a0001c0001t0101g0008
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0004t0067g0067
a0001c0006t0023g0222
a0001c0008t0008g0001
a0003c0005t0002g0195
a0003c0005t0027g0218
a0009c0009t0012g0196
 22 HG00738.hp1
HG01109.hp1
HG01243.hp1
others(19): Show 
HG00738.hp1
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01515.hp1
HG01516.hp1
HG01884.hp2
HG01891.hp1
HG01975.hp2
HG02145.hp1
HG02647.hp1
HG02818.hp2
HG02922.hp2
HG03453.hp2
HG03579.hp1
HG04228.hp1
NA18940.hp2
NA18979.hp2
NA18984.hp2
NA19043.hp1
NA20129.hp1
 intron_variant MODIFIER c.1438-855_1438-851d
others(7): Show 
c.1438-855_1438-851delTTTTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/10 chr21 36931283
chr21:36931283 CAAAAAA
CAAAAAA
 C
C
 98 a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
others(95): Show 
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0002g0193
a0001c0001t0003g0244
a0001c0001t0004g0014
a0001c0001t0004g0058
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0086
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0125
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0084
a0001c0001t0010g0213
a0001c0001t0011g0022
a0001c0001t0011g0118
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0130
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0038g0102
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0102g0063
a0001c0001t0104g0114
a0001c0001t0110g0023
a0001c0004t0004g0046
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0003c0005t0058g0214
a0004c0019t0112g0258
a0008c0012t0035g0069
 98 HG00280.hp1
HG00438.hp1
HG00639.hp2
others(95): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01192.hp2
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01891.hp2
HG01952.hp1
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02257.hp2
HG02280.hp1
HG02300.hp1
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02965.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp2
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04204.hp2
NA18612.hp1
NA18940.hp1
NA18941.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18952.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18989.hp2
NA19004.hp1
NA19009.hp1
NA19030.hp2
NA19043.hp2
NA19057.hp1
NA19068.hp1
NA19074.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1438-856_1438-851d
others(8): Show 
c.1438-856_1438-851delTTTTTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/10 chr21 36931283
chr21:36931622 G
G
 A
A
 2 a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0004g0045
a0001c0001t0004g0138
 2 HG01175.hp1
HG02486.hp1
HG01175.hp1
HG02486.hp1
 intron_variant MODIFIER c.1438-1189C>T
c.1438-1189C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/10 chr21 36931622
chr21:36931745 T
T
 TA
TA
 23 a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0002g0193
others(20): Show 
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0002g0193
a0001c0001t0005g0086
a0001c0001t0006g0085
a0001c0001t0006g0125
a0001c0001t0008g0084
a0001c0001t0011g0118
a0001c0001t0016g0091
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0032g0081
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0071g0089
a0001c0001t0074g0087
a0001c0001t0076g0090
a0001c0001t0080g0093
a0001c0001t0087g0095
a0001c0001t0099g0124
a0001c0001t0104g0114
a0008c0012t0035g0069
 23 HG00673.hp1
HG00735.hp2
HG01123.hp1
others(20): Show 
HG00673.hp1
HG00735.hp2
HG01123.hp1
HG01433.hp2
HG01516.hp2
HG01891.hp2
HG02027.hp2
HG02040.hp2
HG02257.hp2
HG02572.hp1
NA18612.hp1
NA18940.hp1
NA18944.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp2
NA19030.hp2
NA19084.hp2
NA19088.hp2
NA19240.hp2
 intron_variant MODIFIER c.1438-1313dupT
c.1438-1313dupT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/10 chr21 36931745
chr21:36931750 AG
AG
 A
A
 28 a0001c0001t0001g0006
a0001c0001t0001g0074
a0001c0001t0005g0052
others(25): Show 
a0001c0001t0001g0006
a0001c0001t0001g0074
a0001c0001t0005g0052
a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0019g0061
a0001c0001t0019g0247
a0001c0001t0029g0051
a0001c0001t0031g0245
a0001c0001t0038g0054
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0073g0246
a0001c0001t0081g0016
a0001c0001t0096g0025
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0004t0067g0067
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0009c0009t0012g0196
 28 HG01109.hp1
HG01169.hp2
HG01346.hp2
others(25): Show 
HG01109.hp1
HG01169.hp2
HG01346.hp2
HG01516.hp1
HG01884.hp2
HG01891.hp1
HG02145.hp1
HG02280.hp1
HG02559.hp1
HG02647.hp1
HG02723.hp2
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp1
HG03195.hp1
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA20129.hp1
 intron_variant MODIFIER c.1438-1318delC
c.1438-1318delC
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/10 chr21 36931750
chr21:36931751 G
G
 A
A
 94 a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
others(91): Show 
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0002g0193
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0058
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0125
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0084
a0001c0001t0011g0022
a0001c0001t0011g0118
a0001c0001t0014g0241
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0032g0081
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0104g0114
a0001c0001t0110g0023
a0001c0004t0004g0046
a0001c0004t0068g0088
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0018t0004g0060
a0004c0019t0112g0258
a0005c0011t0033g0139
a0008c0012t0035g0069
 94 HG00280.hp1
HG00438.hp1
HG00639.hp2
others(91): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01891.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02257.hp2
HG02300.hp1
HG02523.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp1
HG02683.hp1
HG02717.hp1
HG02818.hp1
HG02976.hp2
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03490.hp1
HG03492.hp1
HG03710.hp1
HG04115.hp1
HG04204.hp2
HG04228.hp1
NA18612.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18952.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1438-1318C>T
c.1438-1318C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/10 chr21 36931751
chr21:36931918 G
G
 A
A
 9 a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
others(6): Show 
a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0056g0198
a0001c0001t0063g0208
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
 9 HG02280.hp1
HG02723.hp2
HG02886.hp1
others(6): Show 
HG02280.hp1
HG02723.hp2
HG02886.hp1
HG02965.hp1
HG03209.hp1
HG03453.hp1
HG03540.hp2
HG03579.hp1
NA20129.hp1
 intron_variant MODIFIER c.1438-1485C>T
c.1438-1485C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/10 chr21 36931918
chr21:36931987 T
T
 C
C
 1 a0001c0018t0004g0060
a0001c0018t0004g0060
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.1438-1554A>G
c.1438-1554A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/10 chr21 36931987
chr21:36932072 C
C
 A
A
 70 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(67): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0058
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0056
a0001c0001t0005g0094
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0008g0018
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0011g0022
a0001c0001t0014g0241
a0001c0001t0016g0047
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0039g0033
a0001c0001t0066g0059
a0001c0001t0075g0049
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0090g0005
a0001c0001t0094g0031
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0110g0023
a0001c0004t0004g0046
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0015t0052g0239
a0001c0018t0004g0060
a0004c0019t0112g0258
 70 HG00280.hp1
HG00438.hp1
HG00639.hp2
others(67): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp2
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01123.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01515.hp1
HG01516.hp1
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02300.hp1
HG02523.hp1
HG02622.hp1
HG02717.hp1
HG02818.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp1
HG03492.hp1
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG04115.hp1
HG04204.hp2
HG04228.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18948.hp1
NA18950.hp1
NA18952.hp2
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1438-1639G>T
c.1438-1639G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/10 chr21 36932072
chr21:36932103 T
T
 C
C
 145 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(142): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0125
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0084
a0001c0001t0010g0213
a0001c0001t0011g0022
a0001c0001t0011g0118
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0019g0061
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0038g0054
a0001c0001t0039g0033
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0004t0004g0046
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0004c0019t0112g0258
a0005c0011t0033g0139
a0008c0012t0035g0069
a0009c0009t0012g0196
 145 HG00280.hp1
HG00438.hp1
HG00639.hp1
others(142): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03041.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1438-1670A>G
c.1438-1670A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/10 chr21 36932103
chr21:36932114 C
C
 T
T
 17 a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
others(14): Show 
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
 17 HG00639.hp1
HG02135.hp2
HG02280.hp2
others(14): Show 
HG00639.hp1
HG02135.hp2
HG02280.hp2
HG02602.hp1
HG02723.hp1
HG03041.hp1
HG03139.hp2
HG03209.hp2
HG03471.hp1
HG03516.hp2
HG03579.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18951.hp1
NA18961.hp1
NA19088.hp1
 intron_variant MODIFIER c.1438-1681G>A
c.1438-1681G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/10 chr21 36932114
chr21:36932504 G
G
 A
A
 1 a0001c0001t0011g0103
a0001c0001t0011g0103
 1 NA18975.hp2
NA18975.hp2
 intron_variant MODIFIER c.1438-2071C>T
c.1438-2071C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/10 chr21 36932504
chr21:36932899 T
T
 G
G
 1 a0001c0001t0020g0034
a0001c0001t0020g0034
 1 HG02083.hp1
HG02083.hp1
 intron_variant MODIFIER c.1438-2466A>C
c.1438-2466A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/10 chr21 36932899
chr21:36933046 A
A
 C
C
 21 a0001c0001t0005g0052
a0001c0001t0010g0213
a0001c0001t0015g0141
others(18): Show 
a0001c0001t0005g0052
a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0019g0061
a0001c0001t0029g0051
a0001c0001t0038g0054
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0004t0067g0067
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0009c0009t0012g0196
 21 HG01109.hp1
HG01884.hp2
HG01891.hp1
others(18): Show 
HG01109.hp1
HG01884.hp2
HG01891.hp1
HG02145.hp1
HG02280.hp1
HG02647.hp1
HG02723.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG03195.hp1
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03540.hp2
HG03579.hp1
NA19043.hp1
NA19043.hp2
NA20129.hp1
 intron_variant MODIFIER c.1438-2613T>G
c.1438-2613T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/10 chr21 36933046
chr21:36933113 G
G
 A
A
 1 a0001c0001t0031g0057
a0001c0001t0031g0057
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.1438-2680C>T
c.1438-2680C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/10 chr21 36933113
chr21:36933193 T
T
 C
C
 1 a0001c0001t0007g0162
a0001c0001t0007g0162
 1 HG00323.hp2
HG00323.hp2
 intron_variant MODIFIER c.1438-2760A>G
c.1438-2760A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/10 chr21 36933193
chr21:36933506 G
G
 A
A
 12 a0001c0001t0006g0256
a0001c0001t0012g0234
a0001c0001t0018g0189
others(9): Show 
a0001c0001t0006g0256
a0001c0001t0012g0234
a0001c0001t0018g0189
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0030g0257
a0001c0001t0037g0254
a0001c0001t0065g0252
a0001c0001t0069g0255
a0001c0001t0106g0253
a0001c0004t0017g0219
a0001c0004t0017g0220
 12 HG01952.hp2
HG02109.hp2
HG02615.hp2
others(9): Show 
HG01952.hp2
HG02109.hp2
HG02615.hp2
HG02622.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03225.hp2
HG04204.hp1
 intron_variant MODIFIER c.1437+2943C>T
c.1437+2943C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/10 chr21 36933506
chr21:36933546 C
C
 T
T
 3 a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0061g0163
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0061g0163
 3 HG03492.hp2
HG03704.hp2
HG03927.hp2
HG03492.hp2
HG03704.hp2
HG03927.hp2
 intron_variant MODIFIER c.1437+2903G>A
c.1437+2903G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/10 chr21 36933546
chr21:36933551 CA
CA
 C
C
 122 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(119): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0128
a0001c0001t0002g0193
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0058
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0125
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0084
a0001c0001t0010g0213
a0001c0001t0011g0022
a0001c0001t0011g0118
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0019g0061
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0038g0054
a0001c0001t0039g0033
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0059g0180
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0222
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0008c0012t0035g0069
a0009c0009t0012g0196
 122 HG00280.hp1
HG00438.hp1
HG00639.hp2
others(119): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02300.hp1
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03710.hp1
HG04115.hp1
HG04204.hp2
HG04228.hp1
NA18612.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1437+2897delT
c.1437+2897delT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/10 chr21 36933551
chr21:36933551 CAA
CAA
 C
C
 73 a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
others(70): Show 
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0004g0009
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0194
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0018g0189
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0192
a0001c0001t0029g0136
a0001c0001t0030g0257
a0001c0001t0037g0254
a0001c0001t0044g0161
a0001c0001t0049g0233
a0001c0001t0057g0225
a0001c0001t0065g0252
a0001c0001t0069g0255
a0001c0001t0081g0016
a0001c0001t0093g0133
a0001c0001t0106g0253
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0007g0215
a0001c0003t0007g0221
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0006t0023g0212
a0001c0007t0007g0200
a0001c0007t0012g0207
a0001c0015t0052g0239
a0002c0002t0002g0143
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0092g0134
a0005c0011t0033g0139
 73 HG00323.hp1
HG00639.hp1
HG01099.hp2
others(70): Show 
HG00323.hp1
HG00639.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01361.hp2
HG01884.hp1
HG01952.hp2
HG02080.hp1
HG02109.hp2
HG02129.hp1
HG02135.hp2
HG02257.hp1
HG02280.hp2
HG02486.hp2
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02647.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03225.hp2
HG03516.hp2
HG03579.hp2
HG03669.hp1
HG03704.hp1
HG03710.hp2
HG03831.hp2
HG04115.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18939.hp1
NA18947.hp2
NA18950.hp2
NA18961.hp1
NA18967.hp1
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19043.hp2
NA19084.hp1
NA19088.hp1
NA20129.hp2
NA20805.hp1
 intron_variant MODIFIER c.1437+2896_1437+289
others(6): Show 
c.1437+2896_1437+2897delTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/10 chr21 36933551
chr21:36933653 C
C
 CAA
CAA
 122 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(119): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0058
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0125
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0084
a0001c0001t0010g0213
a0001c0001t0011g0022
a0001c0001t0011g0118
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0019g0061
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0038g0054
a0001c0001t0039g0033
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0004c0019t0112g0258
a0008c0012t0035g0069
a0009c0009t0012g0196
 122 HG00280.hp1
HG00438.hp1
HG00639.hp2
others(119): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02300.hp1
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04204.hp2
HG04228.hp1
NA18612.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1437+2794_1437+279
others(6): Show 
c.1437+2794_1437+2795dupTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/10 chr21 36933653
chr21:36933662 T
T
 C
C
 2 a0001c0001t0003g0226
a0001c0001t0010g0229
a0001c0001t0003g0226
a0001c0001t0010g0229
 2 NA18967.hp1
NA18984.hp1
NA18967.hp1
NA18984.hp1
 intron_variant MODIFIER c.1437+2787A>G
c.1437+2787A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/10 chr21 36933662
chr21:36933697 G
G
 A
A
 2 a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0064
a0001c0001t0008g0065
 2 HG03490.hp1
HG03492.hp1
HG03490.hp1
HG03492.hp1
 intron_variant MODIFIER c.1437+2752C>T
c.1437+2752C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/10 chr21 36933697
chr21:36933720 A
A
 G
G
 1 a0001c0004t0042g0209
a0001c0004t0042g0209
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.1437+2729T>C
c.1437+2729T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/10 chr21 36933720
chr21:36933841 T
T
 C
C
 159 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(156): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0058
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0125
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0084
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0011g0022
a0001c0001t0011g0118
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0019g0061
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0038g0054
a0001c0001t0039g0033
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0004c0019t0112g0258
a0005c0011t0033g0139
a0008c0012t0035g0069
a0009c0009t0012g0196
 159 HG00280.hp1
HG00438.hp1
HG00639.hp1
others(156): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03041.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18939.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19009.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1437+2608A>G
c.1437+2608A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/10 chr21 36933841
chr21:36933842 G
G
 A
A
 1 a0005c0011t0033g0139
a0005c0011t0033g0139
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.1437+2607C>T
c.1437+2607C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/10 chr21 36933842
chr21:36933848 G
G
 A
A
 13 a0001c0001t0006g0256
a0001c0001t0012g0234
a0001c0001t0018g0189
others(10): Show 
a0001c0001t0006g0256
a0001c0001t0012g0234
a0001c0001t0018g0189
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0030g0257
a0001c0001t0037g0254
a0001c0001t0065g0252
a0001c0001t0069g0255
a0001c0001t0106g0253
a0001c0004t0017g0219
a0001c0004t0017g0220
a0003c0005t0092g0134
 13 HG01175.hp2
HG01952.hp2
HG02109.hp2
others(10): Show 
HG01175.hp2
HG01952.hp2
HG02109.hp2
HG02615.hp2
HG02622.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03225.hp2
HG04204.hp1
 intron_variant MODIFIER c.1437+2601C>T
c.1437+2601C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/10 chr21 36933848
chr21:36933868 G
G
 A
A
 3 a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0006g0012
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0006g0012
 3 HG02523.hp1
NA19068.hp1
NA19074.hp1
HG02523.hp1
NA19068.hp1
NA19074.hp1
 intron_variant MODIFIER c.1437+2581C>T
c.1437+2581C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/10 chr21 36933868
chr21:36933894 C
C
 T
T
 4 a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0004t0017g0219
others(1): Show 
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0004t0017g0219
a0001c0004t0017g0220
 4 HG02896.hp1
HG02897.hp2
HG03098.hp2
others(1): Show 
HG02896.hp1
HG02897.hp2
HG03098.hp2
HG03225.hp2
 intron_variant MODIFIER c.1437+2555G>A
c.1437+2555G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/10 chr21 36933894
chr21:36933922 C
C
 T
T
 1 a0003c0005t0027g0218
a0003c0005t0027g0218
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.1437+2527G>A
c.1437+2527G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/10 chr21 36933922
chr21:36933941 G
G
 A
A
 2 a0001c0001t0002g0165
a0001c0001t0003g0173
a0001c0001t0002g0165
a0001c0001t0003g0173
 2 HG01978.hp1
HG02683.hp2
HG01978.hp1
HG02683.hp2
 intron_variant MODIFIER c.1437+2508C>T
c.1437+2508C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/10 chr21 36933941
chr21:36933964 C
C
 T
T
 4 a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0041g0148
others(1): Show 
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0041g0148
a0002c0002t0062g0145
 4 HG00639.hp1
HG02280.hp2
HG03209.hp2
others(1): Show 
HG00639.hp1
HG02280.hp2
HG03209.hp2
HG06807.hp1
 intron_variant MODIFIER c.1437+2485G>A
c.1437+2485G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/10 chr21 36933964
chr21:36934115 G
G
 A
A
 12 a0001c0001t0006g0256
a0001c0001t0012g0234
a0001c0001t0018g0189
others(9): Show 
a0001c0001t0006g0256
a0001c0001t0012g0234
a0001c0001t0018g0189
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0030g0257
a0001c0001t0037g0254
a0001c0001t0065g0252
a0001c0001t0069g0255
a0001c0001t0106g0253
a0001c0004t0017g0219
a0001c0004t0017g0220
 12 HG01952.hp2
HG02109.hp2
HG02615.hp2
others(9): Show 
HG01952.hp2
HG02109.hp2
HG02615.hp2
HG02622.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03225.hp2
HG04204.hp1
 intron_variant MODIFIER c.1437+2334C>T
c.1437+2334C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/10 chr21 36934115
chr21:36934218 T
T
 C
C
 18 a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
others(15): Show 
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
 18 HG00639.hp1
HG02135.hp2
HG02280.hp2
others(15): Show 
HG00639.hp1
HG02135.hp2
HG02280.hp2
HG02559.hp2
HG02602.hp1
HG02723.hp1
HG03041.hp1
HG03139.hp2
HG03209.hp2
HG03471.hp1
HG03516.hp2
HG03579.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18951.hp1
NA18961.hp1
NA19088.hp1
 intron_variant MODIFIER c.1437+2231A>G
c.1437+2231A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/10 chr21 36934218
chr21:36934654 C
C
 T
T
 125 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(122): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0125
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0084
a0001c0001t0010g0213
a0001c0001t0011g0022
a0001c0001t0011g0118
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0019g0061
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0038g0054
a0001c0001t0039g0033
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0004c0019t0112g0258
a0005c0011t0033g0139
a0008c0012t0035g0069
a0009c0009t0012g0196
 125 HG00280.hp1
HG00438.hp1
HG00639.hp2
others(122): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02300.hp1
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04204.hp2
HG04228.hp1
NA18612.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1437+1795G>A
c.1437+1795G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/10 chr21 36934654
chr21:36935049 C
C
 T
T
 1 a0005c0011t0033g0139
a0005c0011t0033g0139
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.1437+1400G>A
c.1437+1400G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/10 chr21 36935049
chr21:36935198 A
A
 G
G
 2 a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0004g0045
a0001c0001t0004g0138
 2 HG01175.hp1
HG02486.hp1
HG01175.hp1
HG02486.hp1
 intron_variant MODIFIER c.1437+1251T>C
c.1437+1251T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/10 chr21 36935198
chr21:36935238 C
C
 T
T
 122 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(119): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0058
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0125
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0084
a0001c0001t0010g0213
a0001c0001t0011g0022
a0001c0001t0011g0118
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0019g0061
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0038g0054
a0001c0001t0039g0033
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0004c0019t0112g0258
a0008c0012t0035g0069
a0009c0009t0012g0196
 122 HG00280.hp1
HG00438.hp1
HG00639.hp2
others(119): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02300.hp1
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04204.hp2
HG04228.hp1
NA18612.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1437+1211G>A
c.1437+1211G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/10 chr21 36935238
chr21:36935284 T
T
 C
C
 1 a0002c0002t0002g0155
a0002c0002t0002g0155
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.1437+1165A>G
c.1437+1165A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/10 chr21 36935284
chr21:36935351 G
G
 A
A
 2 a0001c0001t0005g0094
a0001c0001t0098g0035
a0001c0001t0005g0094
a0001c0001t0098g0035
 2 NA18940.hp2
NA18975.hp1
NA18940.hp2
NA18975.hp1
 intron_variant MODIFIER c.1437+1098C>T
c.1437+1098C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/10 chr21 36935351
chr21:36935407 C
C
 T
T
 1 a0001c0001t0074g0087
a0001c0001t0074g0087
 1 HG00735.hp2
HG00735.hp2
 intron_variant MODIFIER c.1437+1042G>A
c.1437+1042G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/10 chr21 36935407
chr21:36935419 ATGTT
ATGTT
 A
A
 4 a0001c0001t0019g0247
a0001c0001t0031g0245
a0001c0001t0073g0246
others(1): Show 
a0001c0001t0019g0247
a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0004t0072g0248
 4 HG02559.hp1
HG03471.hp2
HG03516.hp1
others(1): Show 
HG02559.hp1
HG03471.hp2
HG03516.hp1
NA19240.hp1
 intron_variant MODIFIER c.1437+1026_1437+102
others(8): Show 
c.1437+1026_1437+1029delAACA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/10 chr21 36935419
chr21:36935476 G
G
 C
C
 1 a0005c0011t0033g0139
a0005c0011t0033g0139
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.1437+973C>G
c.1437+973C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/10 chr21 36935476
chr21:36935548 C
C
 A
A
 1 a0001c0004t0042g0209
a0001c0004t0042g0209
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.1437+901G>T
c.1437+901G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/10 chr21 36935548
chr21:36935865 T
T
 C
C
 137 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(134): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0058
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0115
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0125
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0084
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0011g0022
a0001c0001t0011g0118
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0019g0061
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0038g0054
a0001c0001t0039g0033
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0004c0019t0112g0258
a0008c0012t0035g0069
a0009c0009t0012g0196
 137 HG00280.hp1
HG00438.hp1
HG00639.hp2
others(134): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02300.hp1
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18612.hp1
NA18939.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp2
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19009.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1437+584A>G
c.1437+584A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/10 chr21 36935865
chr21:36935982 C
C
 G
G
 3 a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
 3 HG02145.hp1
HG03195.hp1
NA19043.hp2
HG02145.hp1
HG03195.hp1
NA19043.hp2
 intron_variant MODIFIER c.1437+467G>C
c.1437+467G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/10 chr21 36935982
chr21:36936252 C
C
 T
T
 138 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(135): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0058
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0115
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0125
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0084
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0011g0022
a0001c0001t0011g0118
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0019g0061
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0038g0054
a0001c0001t0039g0033
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0004c0019t0112g0258
a0005c0011t0033g0139
a0008c0012t0035g0069
a0009c0009t0012g0196
 138 HG00280.hp1
HG00438.hp1
HG00639.hp2
others(135): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02300.hp1
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18612.hp1
NA18939.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp2
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19009.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1437+197G>A
c.1437+197G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/10 chr21 36936252
chr21:36936294 C
C
 T
T
 3 a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0061g0163
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0061g0163
 3 HG03492.hp2
HG03704.hp2
HG03927.hp2
HG03492.hp2
HG03704.hp2
HG03927.hp2
 intron_variant MODIFIER c.1437+155G>A
c.1437+155G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/10 chr21 36936294
chr21:36936394 C
C
 T
T
 1 a0005c0011t0033g0139
a0005c0011t0033g0139
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.1437+55G>A
c.1437+55G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 4/10 chr21 36936394
chr21:36937405 T
T
 C
C
 4 a0001c0001t0005g0135
a0001c0001t0029g0136
a0001c0001t0093g0133
others(1): Show 
a0001c0001t0005g0135
a0001c0001t0029g0136
a0001c0001t0093g0133
a0001c0004t0042g0209
 4 HG00735.hp1
HG01099.hp2
HG02615.hp1
others(1): Show 
HG00735.hp1
HG01099.hp2
HG02615.hp1
HG02809.hp1
 intron_variant MODIFIER c.494-13A>G
c.494-13A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 3/10 chr21 36937405
chr21:36937448 A
A
 C
C
 1 a0001c0001t0001g0072
a0001c0001t0001g0072
 1 HG01123.hp2
HG01123.hp2
 intron_variant MODIFIER c.494-56T>G
c.494-56T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 3/10 chr21 36937448
chr21:36937472 T
T
 C
C
 18 a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
others(15): Show 
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
 18 HG00639.hp1
HG02135.hp2
HG02280.hp2
others(15): Show 
HG00639.hp1
HG02135.hp2
HG02280.hp2
HG02559.hp2
HG02602.hp1
HG02723.hp1
HG03041.hp1
HG03139.hp2
HG03209.hp2
HG03471.hp1
HG03516.hp2
HG03579.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18951.hp1
NA18961.hp1
NA19088.hp1
 intron_variant MODIFIER c.494-80A>G
c.494-80A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 3/10 chr21 36937472
chr21:36937540 C
C
 A
A
 1 a0001c0001t0003g0184
a0001c0001t0003g0184
 1 NA19068.hp2
NA19068.hp2
 intron_variant MODIFIER c.494-148G>T
c.494-148G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 3/10 chr21 36937540
chr21:36937633 T
T
 C
C
 15 a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
others(12): Show 
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0005g0115
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0229
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0049g0233
a0001c0001t0057g0225
a0001c0015t0052g0239
 15 HG01255.hp1
HG01361.hp2
HG02080.hp1
others(12): Show 
HG01255.hp1
HG01361.hp2
HG02080.hp1
HG03710.hp2
HG04115.hp2
HG04228.hp2
NA18939.hp1
NA18950.hp2
NA18967.hp1
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19084.hp1
NA20129.hp2
 intron_variant MODIFIER c.494-241A>G
c.494-241A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 3/10 chr21 36937633
chr21:36937677 A
A
 C
C
 1 a0001c0001t0012g0234
a0001c0001t0012g0234
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.494-285T>G
c.494-285T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 3/10 chr21 36937677
chr21:36937794 C
C
 T
T
 1 a0001c0004t0042g0209
a0001c0004t0042g0209
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.494-402G>A
c.494-402G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 3/10 chr21 36937794
chr21:36937795 G
G
 C
C
 3 a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
 3 HG02129.hp1
NA18947.hp2
NA18971.hp2
HG02129.hp1
NA18947.hp2
NA18971.hp2
 intron_variant MODIFIER c.494-403C>G
c.494-403C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 3/10 chr21 36937795
chr21:36938045 T
T
 C
C
 1 a0001c0003t0111g0137
a0001c0003t0111g0137
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.494-653A>G
c.494-653A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 3/10 chr21 36938045
chr21:36938082 A
A
 G
G
 2 a0002c0002t0040g0242
a0002c0002t0064g0243
a0002c0002t0040g0242
a0002c0002t0064g0243
 2 HG02559.hp2
HG03041.hp1
HG02559.hp2
HG03041.hp1
 intron_variant MODIFIER c.494-690T>C
c.494-690T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 3/10 chr21 36938082
chr21:36938500 T
T
 C
C
 9 a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
others(6): Show 
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0027g0157
a0002c0002t0043g0152
a0002c0002t0048g0144
 9 HG02135.hp2
HG02602.hp1
HG02723.hp1
others(6): Show 
HG02135.hp2
HG02602.hp1
HG02723.hp1
HG03471.hp1
HG03516.hp2
NA18522.hp2
NA18951.hp1
NA18961.hp1
NA19088.hp1
 intron_variant MODIFIER c.493+332A>G
c.493+332A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 3/10 chr21 36938500
chr21:36938662 C
C
 G
G
 3 a0001c0001t0071g0089
a0001c0001t0099g0124
a0001c0004t0068g0088
a0001c0001t0071g0089
a0001c0001t0099g0124
a0001c0004t0068g0088
 3 HG03195.hp2
NA19030.hp2
NA19240.hp2
HG03195.hp2
NA19030.hp2
NA19240.hp2
 intron_variant MODIFIER c.493+170G>C
c.493+170G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 3/10 chr21 36938662
chr21:36938719 T
T
 G
G
 1 a0004c0019t0112g0258
a0004c0019t0112g0258
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.493+113A>C
c.493+113A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 3/10 chr21 36938719
chr21:36938786 G
G
 A
A
 1 a0001c0001t0037g0254
a0001c0001t0037g0254
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.493+46C>T
c.493+46C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 3/10 chr21 36938786
chr21:36939131 T
T
 C
C
 1 a0001c0001t0028g0167
a0001c0001t0028g0167
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.331-137A>G
c.331-137A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36939131
chr21:36939234 A
A
 T
T
 1 a0001c0001t0106g0253
a0001c0001t0106g0253
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.331-240T>A
c.331-240T>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36939234
chr21:36939552 C
C
 G
G
 18 a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
others(15): Show 
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
 18 HG00639.hp1
HG02135.hp2
HG02280.hp2
others(15): Show 
HG00639.hp1
HG02135.hp2
HG02280.hp2
HG02559.hp2
HG02602.hp1
HG02723.hp1
HG03041.hp1
HG03139.hp2
HG03209.hp2
HG03471.hp1
HG03516.hp2
HG03579.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18951.hp1
NA18961.hp1
NA19088.hp1
 intron_variant MODIFIER c.331-558G>C
c.331-558G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36939552
chr21:36939693 C
C
 T
T
 157 a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
others(154): Show 
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0003g0244
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0125
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0084
a0001c0001t0010g0213
a0001c0001t0011g0022
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0039g0033
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0102g0063
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0008c0012t0035g0069
a0009c0009t0012g0196
 157 HG00280.hp1
HG00438.hp1
HG00639.hp1
others(154): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.331-699G>A
c.331-699G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36939693
chr21:36940293 C
C
 T
T
 2 a0001c0001t0006g0132
a0003c0005t0092g0134
a0001c0001t0006g0132
a0003c0005t0092g0134
 2 HG01175.hp2
HG02976.hp1
HG01175.hp2
HG02976.hp1
 intron_variant MODIFIER c.331-1299G>A
c.331-1299G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36940293
chr21:36940376 T
T
 G
G
 4 a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0041g0148
others(1): Show 
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0041g0148
a0002c0002t0062g0145
 4 HG00639.hp1
HG02280.hp2
HG03209.hp2
others(1): Show 
HG00639.hp1
HG02280.hp2
HG03209.hp2
HG06807.hp1
 intron_variant MODIFIER c.331-1382A>C
c.331-1382A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36940376
chr21:36940377 C
C
 G
G
 18 a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
others(15): Show 
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
 18 HG00639.hp1
HG02135.hp2
HG02280.hp2
others(15): Show 
HG00639.hp1
HG02135.hp2
HG02280.hp2
HG02559.hp2
HG02602.hp1
HG02723.hp1
HG03041.hp1
HG03139.hp2
HG03209.hp2
HG03471.hp1
HG03516.hp2
HG03579.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18951.hp1
NA18961.hp1
NA19088.hp1
 intron_variant MODIFIER c.331-1383G>C
c.331-1383G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36940377
chr21:36940387 G
G
 A
A
 3 a0001c0001t0005g0135
a0001c0001t0029g0136
a0001c0001t0093g0133
a0001c0001t0005g0135
a0001c0001t0029g0136
a0001c0001t0093g0133
 3 HG01099.hp2
HG02615.hp1
HG02809.hp1
HG01099.hp2
HG02615.hp1
HG02809.hp1
 intron_variant MODIFIER c.331-1393C>T
c.331-1393C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36940387
chr21:36940424 G
G
 A
A
 1 a0001c0001t0038g0054
a0001c0001t0038g0054
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.331-1430C>T
c.331-1430C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36940424
chr21:36940441 A
A
 G
G
 1 a0001c0004t0042g0209
a0001c0004t0042g0209
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.331-1447T>C
c.331-1447T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36940441
chr21:36940707 T
T
 C
C
 1 a0005c0011t0033g0139
a0005c0011t0033g0139
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.331-1713A>G
c.331-1713A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36940707
chr21:36940736 G
G
 A
A
 1 a0001c0015t0052g0239
a0001c0015t0052g0239
 1 HG03710.hp2
HG03710.hp2
 intron_variant MODIFIER c.331-1742C>T
c.331-1742C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36940736
chr21:36940831 C
C
 T
T
 3 a0001c0001t0005g0135
a0001c0001t0029g0136
a0001c0001t0093g0133
a0001c0001t0005g0135
a0001c0001t0029g0136
a0001c0001t0093g0133
 3 HG01099.hp2
HG02615.hp1
HG02809.hp1
HG01099.hp2
HG02615.hp1
HG02809.hp1
 intron_variant MODIFIER c.331-1837G>A
c.331-1837G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36940831
chr21:36940987 A
A
 G
G
 18 a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
others(15): Show 
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
 18 HG00639.hp1
HG02135.hp2
HG02280.hp2
others(15): Show 
HG00639.hp1
HG02135.hp2
HG02280.hp2
HG02559.hp2
HG02602.hp1
HG02723.hp1
HG03041.hp1
HG03139.hp2
HG03209.hp2
HG03471.hp1
HG03516.hp2
HG03579.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18951.hp1
NA18961.hp1
NA19088.hp1
 intron_variant MODIFIER c.331-1993T>C
c.331-1993T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36940987
chr21:36940991 C
C
 T
T
 1 a0001c0004t0067g0067
a0001c0004t0067g0067
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.331-1997G>A
c.331-1997G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36940991
chr21:36941040 C
C
 T
T
 1 a0001c0001t0005g0052
a0001c0001t0005g0052
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.331-2046G>A
c.331-2046G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36941040
chr21:36941127 G
G
 A
A
 1 a0001c0001t0005g0086
a0001c0001t0005g0086
 1 NA18944.hp2
NA18944.hp2
 intron_variant MODIFIER c.331-2133C>T
c.331-2133C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36941127
chr21:36941160 C
C
 T
T
 1 a0001c0001t0037g0254
a0001c0001t0037g0254
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.331-2166G>A
c.331-2166G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36941160
chr21:36941576 G
G
 A
A
 2 a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0006t0023g0212
a0001c0006t0023g0222
 2 HG02145.hp1
NA19043.hp2
HG02145.hp1
NA19043.hp2
 intron_variant MODIFIER c.331-2582C>T
c.331-2582C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36941576
chr21:36941598 T
T
 C
C
 48 a0001c0001t0005g0052
a0001c0001t0005g0135
a0001c0001t0010g0213
others(45): Show 
a0001c0001t0005g0052
a0001c0001t0005g0135
a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0019g0061
a0001c0001t0019g0247
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0031g0245
a0001c0001t0038g0054
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0073g0246
a0001c0001t0093g0133
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0005c0011t0033g0139
a0009c0009t0012g0196
 48 HG00639.hp1
HG00735.hp1
HG01099.hp2
others(45): Show 
HG00639.hp1
HG00735.hp1
HG01099.hp2
HG01109.hp1
HG01884.hp2
HG01891.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp1
HG02280.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02647.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03041.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18951.hp1
NA18961.hp1
NA19043.hp1
NA19043.hp2
NA19088.hp1
NA19240.hp1
NA20129.hp1
 intron_variant MODIFIER c.331-2604A>G
c.331-2604A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36941598
chr21:36941630 A
A
 G
G
 3 a0001c0001t0005g0135
a0001c0001t0029g0136
a0001c0001t0093g0133
a0001c0001t0005g0135
a0001c0001t0029g0136
a0001c0001t0093g0133
 3 HG01099.hp2
HG02615.hp1
HG02809.hp1
HG01099.hp2
HG02615.hp1
HG02809.hp1
 intron_variant MODIFIER c.331-2636T>C
c.331-2636T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36941630
chr21:36941704 T
T
 C
C
 123 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(120): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0058
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0125
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0084
a0001c0001t0010g0213
a0001c0001t0011g0022
a0001c0001t0011g0118
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0019g0061
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0038g0054
a0001c0001t0039g0033
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0004t0004g0046
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0004c0019t0112g0258
a0008c0012t0035g0069
a0009c0009t0012g0196
 123 HG00280.hp1
HG00438.hp1
HG00639.hp2
others(120): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02300.hp1
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04204.hp2
HG04228.hp1
NA18612.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.331-2710A>G
c.331-2710A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36941704
chr21:36941955 C
C
 T
T
 8 a0001c0001t0005g0052
a0001c0001t0019g0061
a0001c0001t0029g0051
others(5): Show 
a0001c0001t0005g0052
a0001c0001t0019g0061
a0001c0001t0029g0051
a0001c0001t0038g0054
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0004t0067g0067
a0009c0009t0012g0196
 8 HG01109.hp1
HG01884.hp2
HG01891.hp1
others(5): Show 
HG01109.hp1
HG01884.hp2
HG01891.hp1
HG02647.hp1
HG02818.hp2
HG02922.hp2
HG03453.hp2
NA19043.hp1
 intron_variant MODIFIER c.331-2961G>A
c.331-2961G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36941955
chr21:36942096 T
T
 C
C
 145 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(142): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0058
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0125
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0084
a0001c0001t0010g0213
a0001c0001t0011g0022
a0001c0001t0011g0118
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0019g0061
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0038g0054
a0001c0001t0039g0033
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0004t0004g0046
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0004c0019t0112g0258
a0005c0011t0033g0139
a0008c0012t0035g0069
a0009c0009t0012g0196
 145 HG00280.hp1
HG00438.hp1
HG00639.hp1
others(142): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03041.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.331-3102A>G
c.331-3102A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36942096
chr21:36942165 G
G
 A
A
 1 a0001c0001t0061g0163
a0001c0001t0061g0163
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.331-3171C>T
c.331-3171C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36942165
chr21:36942232 G
G
 T
T
 10 a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
others(7): Show 
a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
 10 HG02280.hp1
HG02723.hp2
HG02886.hp1
others(7): Show 
HG02280.hp1
HG02723.hp2
HG02886.hp1
HG02895.hp2
HG02965.hp1
HG03209.hp1
HG03453.hp1
HG03540.hp2
HG03579.hp1
NA20129.hp1
 intron_variant MODIFIER c.331-3238C>A
c.331-3238C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36942232
chr21:36942271 T
T
 C
C
 1 a0002c0002t0046g0150
a0002c0002t0046g0150
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.331-3277A>G
c.331-3277A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36942271
chr21:36942323 T
T
 C
C
 144 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(141): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0058
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0125
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0084
a0001c0001t0010g0213
a0001c0001t0011g0022
a0001c0001t0011g0118
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0019g0061
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0038g0054
a0001c0001t0039g0033
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0004t0004g0046
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0004c0019t0112g0258
a0005c0011t0033g0139
a0008c0012t0035g0069
a0009c0009t0012g0196
 144 HG00438.hp1
HG00639.hp1
HG00639.hp2
others(141): Show 
HG00438.hp1
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03041.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.331-3329A>G
c.331-3329A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36942323
chr21:36942323 T
T
 G
G
 1 a0001c0001t0100g0073
a0001c0001t0100g0073
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.331-3329A>C
c.331-3329A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36942323
chr21:36942356 G
G
 A
A
 1 a0001c0001t0022g0187
a0001c0001t0022g0187
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.331-3362C>T
c.331-3362C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36942356
chr21:36942382 G
G
 A
A
 1 a0002c0002t0046g0150
a0002c0002t0046g0150
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.331-3388C>T
c.331-3388C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36942382
chr21:36942398 C
C
 CA
CA
 18 a0001c0001t0001g0120
a0001c0001t0002g0171
a0001c0001t0002g0232
others(15): Show 
a0001c0001t0001g0120
a0001c0001t0002g0171
a0001c0001t0002g0232
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0010g0164
a0001c0001t0013g0223
a0001c0001t0016g0106
a0001c0001t0018g0189
a0001c0001t0024g0191
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0033g0104
a0001c0001t0044g0161
a0001c0001t0049g0233
a0001c0001t0088g0105
a0001c0003t0003g0199
a0003c0005t0092g0134
 18 HG01175.hp2
HG01257.hp2
HG01258.hp1
others(15): Show 
HG01175.hp2
HG01257.hp2
HG01258.hp1
HG01952.hp2
HG02040.hp1
HG02083.hp2
HG02486.hp2
HG03098.hp1
HG03098.hp2
HG03540.hp1
HG03669.hp1
HG03831.hp1
HG03831.hp2
NA18612.hp2
NA18945.hp2
NA18977.hp2
NA18993.hp2
NA19009.hp2
 intron_variant MODIFIER c.331-3405dupT
c.331-3405dupT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36942398
chr21:36942398 C
C
 CAAAAAAA
others(4): Show 
CAAAAAAAAAAA
 2 a0001c0001t0005g0135
a0001c0001t0093g0133
a0001c0001t0005g0135
a0001c0001t0093g0133
 2 HG01099.hp2
HG02615.hp1
HG01099.hp2
HG02615.hp1
 intron_variant MODIFIER c.331-3415_331-3405d
others(13): Show 
c.331-3415_331-3405dupTTTTTTTTTTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36942398
chr21:36942398 C
C
 CAAAAAAA
others(5): Show 
CAAAAAAAAAAAA
 1 a0001c0001t0029g0136
a0001c0001t0029g0136
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.331-3416_331-3405d
others(14): Show 
c.331-3416_331-3405dupTTTTTTTTTTTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36942398
chr21:36942398 CA
CA
 C
C
 22 a0001c0001t0002g0158
a0001c0001t0006g0132
a0001c0001t0065g0252
others(19): Show 
a0001c0001t0002g0158
a0001c0001t0006g0132
a0001c0001t0065g0252
a0001c0003t0007g0215
a0001c0004t0017g0219
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
 22 HG00323.hp1
HG00639.hp1
HG02135.hp2
others(19): Show 
HG00323.hp1
HG00639.hp1
HG02135.hp2
HG02280.hp2
HG02602.hp1
HG02723.hp1
HG02897.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03139.hp2
HG03209.hp2
HG03471.hp1
HG03490.hp2
HG03516.hp2
HG03579.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18951.hp1
NA18961.hp1
NA19088.hp1
 intron_variant MODIFIER c.331-3405delT
c.331-3405delT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36942398
chr21:36942398 CAAAAAAA
others(3): Show 
CAAAAAAAAAA
 C
C
 1 a0001c0001t0003g0244
a0001c0001t0003g0244
 1 NA18952.hp2
NA18952.hp2
 intron_variant MODIFIER c.331-3414_331-3405d
others(12): Show 
c.331-3414_331-3405delTTTTTTTTTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36942398
chr21:36942398 CAAAAAAA
others(4): Show 
CAAAAAAAAAAA
 C
C
 120 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(117): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0058
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0125
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0084
a0001c0001t0010g0213
a0001c0001t0011g0022
a0001c0001t0011g0118
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0019g0061
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0038g0054
a0001c0001t0039g0033
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0004t0004g0046
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0004c0019t0112g0258
a0008c0012t0035g0069
a0009c0009t0012g0196
 120 HG00280.hp1
HG00438.hp1
HG00639.hp2
others(117): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02300.hp1
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04204.hp2
HG04228.hp1
NA18612.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18979.hp2
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.331-3415_331-3405d
others(13): Show 
c.331-3415_331-3405delTTTTTTTTTTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36942398
chr21:36942398 CAAAAAAA
others(5): Show 
CAAAAAAAAAAAA
 C
C
 2 a0001c0001t0001g0024
a0001c0001t0021g0129
a0001c0001t0001g0024
a0001c0001t0021g0129
 2 HG01257.hp1
NA18984.hp2
HG01257.hp1
NA18984.hp2
 intron_variant MODIFIER c.331-3416_331-3405d
others(14): Show 
c.331-3416_331-3405delTTTTTTTTTTTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36942398
chr21:36942467 G
G
 A
A
 3 a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
a0001c0003t0003g0204
a0001c0003t0054g0217
a0001c0003t0060g0203
 3 HG02129.hp1
NA18947.hp2
NA18971.hp2
HG02129.hp1
NA18947.hp2
NA18971.hp2
 intron_variant MODIFIER c.331-3473C>T
c.331-3473C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36942467
chr21:36942536 G
G
 A
A
 145 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(142): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0058
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0125
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0084
a0001c0001t0010g0213
a0001c0001t0011g0022
a0001c0001t0011g0118
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0019g0061
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0038g0054
a0001c0001t0039g0033
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0004t0004g0046
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0004c0019t0112g0258
a0005c0011t0033g0139
a0008c0012t0035g0069
a0009c0009t0012g0196
 145 HG00280.hp1
HG00438.hp1
HG00639.hp1
others(142): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03041.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.331-3542C>T
c.331-3542C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36942536
chr21:36942855 C
C
 T
T
 3 a0001c0001t0013g0223
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0013g0223
a0001c0001t0026g0250
a0001c0001t0026g0251
 3 HG01257.hp2
HG01258.hp1
HG03098.hp1
HG01257.hp2
HG01258.hp1
HG03098.hp1
 intron_variant MODIFIER c.331-3861G>A
c.331-3861G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36942855
chr21:36942861 C
C
 G
G
 2 a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0006t0023g0212
a0001c0006t0023g0222
 2 HG02145.hp1
NA19043.hp2
HG02145.hp1
NA19043.hp2
 intron_variant MODIFIER c.331-3867G>C
c.331-3867G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36942861
chr21:36943003 G
G
 A
A
 2 a0001c0001t0003g0226
a0001c0001t0010g0229
a0001c0001t0003g0226
a0001c0001t0010g0229
 2 NA18967.hp1
NA18984.hp1
NA18967.hp1
NA18984.hp1
 intron_variant MODIFIER c.331-4009C>T
c.331-4009C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36943003
chr21:36943024 C
C
 T
T
 1 a0001c0001t0053g0186
a0001c0001t0053g0186
 1 HG03927.hp2
HG03927.hp2
 intron_variant MODIFIER c.331-4030G>A
c.331-4030G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36943024
chr21:36943192 T
T
 C
C
 1 a0001c0001t0015g0141
a0001c0001t0015g0141
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.331-4198A>G
c.331-4198A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36943192
chr21:36943264 T
T
 G
G
 123 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(120): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0058
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0125
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0084
a0001c0001t0010g0213
a0001c0001t0011g0022
a0001c0001t0011g0118
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0019g0061
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0038g0054
a0001c0001t0039g0033
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0004t0004g0046
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0004c0019t0112g0258
a0008c0012t0035g0069
a0009c0009t0012g0196
 123 HG00280.hp1
HG00438.hp1
HG00639.hp2
others(120): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02300.hp1
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04204.hp2
HG04228.hp1
NA18612.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.331-4270A>C
c.331-4270A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36943264
chr21:36943363 A
A
 G
G
 1 a0001c0001t0004g0138
a0001c0001t0004g0138
 1 HG01175.hp1
HG01175.hp1
 intron_variant MODIFIER c.331-4369T>C
c.331-4369T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36943363
chr21:36943545 T
T
 G
G
 1 a0005c0011t0033g0139
a0005c0011t0033g0139
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.331-4551A>C
c.331-4551A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36943545
chr21:36943593 G
G
 A
A
 1 a0001c0001t0009g0178
a0001c0001t0009g0178
 1 HG00280.hp2
HG00280.hp2
 intron_variant MODIFIER c.331-4599C>T
c.331-4599C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36943593
chr21:36943610 A
A
 G
G
 1 a0001c0001t0001g0074
a0001c0001t0001g0074
 1 HG01169.hp2
HG01169.hp2
 intron_variant MODIFIER c.331-4616T>C
c.331-4616T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36943610
chr21:36943806 G
G
 A
A
 1 a0001c0004t0042g0209
a0001c0004t0042g0209
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.331-4812C>T
c.331-4812C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36943806
chr21:36943817 T
T
 TA
TA
 24 a0001c0001t0010g0229
a0001c0001t0024g0191
a0001c0001t0024g0211
others(21): Show 
a0001c0001t0010g0229
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0109g0119
a0001c0004t0017g0219
a0001c0004t0017g0220
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
 24 HG00639.hp1
HG02135.hp2
HG02280.hp2
others(21): Show 
HG00639.hp1
HG02135.hp2
HG02280.hp2
HG02559.hp2
HG02602.hp1
HG02723.hp1
HG02896.hp1
HG02897.hp2
HG02965.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp2
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03516.hp2
HG03579.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18951.hp1
NA18961.hp1
NA18967.hp1
NA19088.hp1
 intron_variant MODIFIER c.331-4824dupT
c.331-4824dupT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36943817
chr21:36943817 TA
TA
 T
T
 125 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(122): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0058
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0125
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0084
a0001c0001t0010g0213
a0001c0001t0011g0022
a0001c0001t0011g0118
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0019g0061
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0038g0054
a0001c0001t0039g0033
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0004c0019t0112g0258
a0005c0011t0033g0139
a0008c0012t0035g0069
a0009c0009t0012g0196
 125 HG00280.hp1
HG00438.hp1
HG00639.hp2
others(122): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02300.hp1
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03041.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04204.hp2
HG04228.hp1
NA18612.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.331-4824delT
c.331-4824delT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36943817
chr21:36944041 G
G
 T
T
 142 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(139): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0058
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0125
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0084
a0001c0001t0010g0213
a0001c0001t0011g0022
a0001c0001t0011g0118
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0019g0061
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0038g0054
a0001c0001t0039g0033
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0004t0004g0046
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0004c0019t0112g0258
a0005c0011t0033g0139
a0008c0012t0035g0069
a0009c0009t0012g0196
 142 HG00280.hp1
HG00438.hp1
HG00639.hp1
others(139): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03041.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.331-5047C>A
c.331-5047C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36944041
chr21:36944145 C
C
 CAT
CAT
 18 a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
others(15): Show 
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
 18 HG00639.hp1
HG02135.hp2
HG02280.hp2
others(15): Show 
HG00639.hp1
HG02135.hp2
HG02280.hp2
HG02559.hp2
HG02602.hp1
HG02723.hp1
HG03041.hp1
HG03139.hp2
HG03209.hp2
HG03471.hp1
HG03516.hp2
HG03579.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18951.hp1
NA18961.hp1
NA19088.hp1
 intron_variant MODIFIER c.331-5153_331-5152d
others(4): Show 
c.331-5153_331-5152dupAT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36944145
chr21:36944565 CTTTA
CTTTA
 C
C
 5 a0001c0001t0005g0052
a0001c0001t0019g0061
a0001c0001t0029g0051
others(2): Show 
a0001c0001t0005g0052
a0001c0001t0019g0061
a0001c0001t0029g0051
a0001c0001t0038g0054
a0001c0001t0105g0053
 5 HG01109.hp1
HG01884.hp2
HG02818.hp2
others(2): Show 
HG01109.hp1
HG01884.hp2
HG02818.hp2
HG02922.hp2
NA19043.hp1
 intron_variant MODIFIER c.331-5575_331-5572d
others(6): Show 
c.331-5575_331-5572delTAAA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36944565
chr21:36944568 T
T
 C
C
 1 a0001c0001t0001g0017
a0001c0001t0001g0017
 1 NA19068.hp1
NA19068.hp1
 intron_variant MODIFIER c.331-5574A>G
c.331-5574A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36944568
chr21:36944588 T
T
 C
C
 18 a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
others(15): Show 
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
 18 HG00639.hp1
HG02135.hp2
HG02280.hp2
others(15): Show 
HG00639.hp1
HG02135.hp2
HG02280.hp2
HG02559.hp2
HG02602.hp1
HG02723.hp1
HG03041.hp1
HG03139.hp2
HG03209.hp2
HG03471.hp1
HG03516.hp2
HG03579.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18951.hp1
NA18961.hp1
NA19088.hp1
 intron_variant MODIFIER c.331-5594A>G
c.331-5594A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36944588
chr21:36944671 G
G
 C
C
 18 a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
others(15): Show 
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
 18 HG00639.hp1
HG02135.hp2
HG02280.hp2
others(15): Show 
HG00639.hp1
HG02135.hp2
HG02280.hp2
HG02559.hp2
HG02602.hp1
HG02723.hp1
HG03041.hp1
HG03139.hp2
HG03209.hp2
HG03471.hp1
HG03516.hp2
HG03579.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18951.hp1
NA18961.hp1
NA19088.hp1
 intron_variant MODIFIER c.331-5677C>G
c.331-5677C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36944671
chr21:36944789 G
G
 A
A
 1 a0001c0003t0050g0206
a0001c0003t0050g0206
 1 HG01255.hp2
HG01255.hp2
 intron_variant MODIFIER c.331-5795C>T
c.331-5795C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36944789
chr21:36944807 T
T
 C
C
 3 a0001c0001t0013g0223
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0013g0223
a0001c0001t0026g0250
a0001c0001t0026g0251
 3 HG01257.hp2
HG01258.hp1
HG03098.hp1
HG01257.hp2
HG01258.hp1
HG03098.hp1
 intron_variant MODIFIER c.331-5813A>G
c.331-5813A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36944807
chr21:36944861 G
G
 A
A
 2 a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0026g0250
a0001c0001t0026g0251
 2 HG01257.hp2
HG01258.hp1
HG01257.hp2
HG01258.hp1
 intron_variant MODIFIER c.331-5867C>T
c.331-5867C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36944861
chr21:36944886 G
G
 C
C
 2 a0001c0001t0004g0015
a0001c0001t0030g0048
a0001c0001t0004g0015
a0001c0001t0030g0048
 2 HG00741.hp2
HG01243.hp1
HG00741.hp2
HG01243.hp1
 intron_variant MODIFIER c.331-5892C>G
c.331-5892C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36944886
chr21:36944919 G
G
 A
A
 1 a0001c0001t0074g0087
a0001c0001t0074g0087
 1 HG00735.hp2
HG00735.hp2
 intron_variant MODIFIER c.331-5925C>T
c.331-5925C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36944919
chr21:36944937 G
G
 A
A
 2 a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0004g0045
a0001c0001t0004g0138
 2 HG01175.hp1
HG02486.hp1
HG01175.hp1
HG02486.hp1
 intron_variant MODIFIER c.331-5943C>T
c.331-5943C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36944937
chr21:36944963 ACAAAAAA
others(5): Show 
ACAAAAAATTAGC
 A
A
 1 a0001c0001t0081g0016
a0001c0001t0081g0016
 1 HG03704.hp1
HG03704.hp1
 intron_variant MODIFIER c.331-5981_331-5970d
others(14): Show 
c.331-5981_331-5970delGCTAATTTTTTG
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36944963
chr21:36945044 C
C
 T
T
 3 a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
 3 HG02145.hp1
HG03195.hp1
NA19043.hp2
HG02145.hp1
HG03195.hp1
NA19043.hp2
 intron_variant MODIFIER c.331-6050G>A
c.331-6050G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36945044
chr21:36945049 A
A
 G
G
 18 a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
others(15): Show 
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
 18 HG00639.hp1
HG02135.hp2
HG02280.hp2
others(15): Show 
HG00639.hp1
HG02135.hp2
HG02280.hp2
HG02559.hp2
HG02602.hp1
HG02723.hp1
HG03041.hp1
HG03139.hp2
HG03209.hp2
HG03471.hp1
HG03516.hp2
HG03579.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18951.hp1
NA18961.hp1
NA19088.hp1
 intron_variant MODIFIER c.331-6055T>C
c.331-6055T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36945049
chr21:36945051 C
C
 T
T
 1 a0001c0001t0107g0050
a0001c0001t0107g0050
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.331-6057G>A
c.331-6057G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36945051
chr21:36945055 A
A
 G
G
 142 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(139): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0058
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0125
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0084
a0001c0001t0010g0213
a0001c0001t0011g0022
a0001c0001t0011g0118
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0019g0061
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0038g0054
a0001c0001t0039g0033
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0004t0004g0046
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0004c0019t0112g0258
a0005c0011t0033g0139
a0008c0012t0035g0069
a0009c0009t0012g0196
 142 HG00280.hp1
HG00438.hp1
HG00639.hp1
others(139): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03041.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.331-6061T>C
c.331-6061T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36945055
chr21:36945221 T
T
 G
G
 18 a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
others(15): Show 
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
 18 HG00639.hp1
HG02135.hp2
HG02280.hp2
others(15): Show 
HG00639.hp1
HG02135.hp2
HG02280.hp2
HG02559.hp2
HG02602.hp1
HG02723.hp1
HG03041.hp1
HG03139.hp2
HG03209.hp2
HG03471.hp1
HG03516.hp2
HG03579.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18951.hp1
NA18961.hp1
NA19088.hp1
 intron_variant MODIFIER c.331-6227A>C
c.331-6227A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36945221
chr21:36945327 A
A
 G
G
 18 a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
others(15): Show 
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
 18 HG00639.hp1
HG02135.hp2
HG02280.hp2
others(15): Show 
HG00639.hp1
HG02135.hp2
HG02280.hp2
HG02559.hp2
HG02602.hp1
HG02723.hp1
HG03041.hp1
HG03139.hp2
HG03209.hp2
HG03471.hp1
HG03516.hp2
HG03579.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18951.hp1
NA18961.hp1
NA19088.hp1
 intron_variant MODIFIER c.331-6333T>C
c.331-6333T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36945327
chr21:36945378 C
C
 G
G
 18 a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
others(15): Show 
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
 18 HG00639.hp1
HG02135.hp2
HG02280.hp2
others(15): Show 
HG00639.hp1
HG02135.hp2
HG02280.hp2
HG02559.hp2
HG02602.hp1
HG02723.hp1
HG03041.hp1
HG03139.hp2
HG03209.hp2
HG03471.hp1
HG03516.hp2
HG03579.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18951.hp1
NA18961.hp1
NA19088.hp1
 intron_variant MODIFIER c.331-6384G>C
c.331-6384G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36945378
chr21:36945446 G
G
 T
T
 164 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(161): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0125
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0084
a0001c0001t0010g0213
a0001c0001t0011g0022
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0039g0033
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0008c0012t0035g0069
a0009c0009t0012g0196
 164 HG00280.hp1
HG00438.hp1
HG00639.hp1
others(161): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.331-6452C>A
c.331-6452C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36945446
chr21:36945450 T
T
 C
C
 18 a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
others(15): Show 
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
 18 HG00639.hp1
HG02135.hp2
HG02280.hp2
others(15): Show 
HG00639.hp1
HG02135.hp2
HG02280.hp2
HG02559.hp2
HG02602.hp1
HG02723.hp1
HG03041.hp1
HG03139.hp2
HG03209.hp2
HG03471.hp1
HG03516.hp2
HG03579.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18951.hp1
NA18961.hp1
NA19088.hp1
 intron_variant MODIFIER c.331-6456A>G
c.331-6456A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36945450
chr21:36945697 C
C
 A
A
 3 a0001c0001t0005g0135
a0001c0001t0029g0136
a0001c0001t0093g0133
a0001c0001t0005g0135
a0001c0001t0029g0136
a0001c0001t0093g0133
 3 HG01099.hp2
HG02615.hp1
HG02809.hp1
HG01099.hp2
HG02615.hp1
HG02809.hp1
 intron_variant MODIFIER c.331-6703G>T
c.331-6703G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36945697
chr21:36945702 T
T
 G
G
 2 a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0004g0045
a0001c0001t0004g0138
 2 HG01175.hp1
HG02486.hp1
HG01175.hp1
HG02486.hp1
 intron_variant MODIFIER c.331-6708A>C
c.331-6708A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36945702
chr21:36945735 G
G
 A
A
 2 a0001c0001t0001g0040
a0001c0001t0001g0071
a0001c0001t0001g0040
a0001c0001t0001g0071
 2 HG01361.hp1
HG01952.hp1
HG01361.hp1
HG01952.hp1
 intron_variant MODIFIER c.331-6741C>T
c.331-6741C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36945735
chr21:36945755 G
G
 A
A
 4 a0001c0001t0019g0247
a0001c0001t0031g0245
a0001c0001t0073g0246
others(1): Show 
a0001c0001t0019g0247
a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0004t0072g0248
 4 HG02559.hp1
HG03471.hp2
HG03516.hp1
others(1): Show 
HG02559.hp1
HG03471.hp2
HG03516.hp1
NA19240.hp1
 intron_variant MODIFIER c.331-6761C>T
c.331-6761C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36945755
chr21:36945762 T
T
 C
C
 13 a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
others(10): Show 
a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0017t0108g0082
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
 13 HG02145.hp1
HG02280.hp1
HG02723.hp2
others(10): Show 
HG02145.hp1
HG02280.hp1
HG02723.hp2
HG02886.hp1
HG02895.hp2
HG02965.hp1
HG03195.hp1
HG03209.hp1
HG03453.hp1
HG03540.hp2
HG03579.hp1
NA19043.hp2
NA20129.hp1
 intron_variant MODIFIER c.331-6768A>G
c.331-6768A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36945762
chr21:36945921 C
C
 T
T
 243 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(240): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 243 HG00280.hp1
HG00280.hp2
HG00323.hp2
others(240): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.331-6927G>A
c.331-6927G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36945921
chr21:36945984 G
G
 A
A
 1 a0001c0001t0001g0041
a0001c0001t0001g0041
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.331-6990C>T
c.331-6990C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36945984
chr21:36946066 G
G
 A
A
 1 a0001c0001t0003g0244
a0001c0001t0003g0244
 1 NA18952.hp2
NA18952.hp2
 intron_variant MODIFIER c.331-7072C>T
c.331-7072C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36946066
chr21:36946105 C
C
 T
T
 1 a0001c0001t0022g0187
a0001c0001t0022g0187
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.331-7111G>A
c.331-7111G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36946105
chr21:36946151 G
G
 A
A
 3 a0001c0001t0013g0223
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0013g0223
a0001c0001t0026g0250
a0001c0001t0026g0251
 3 HG01257.hp2
HG01258.hp1
HG03098.hp1
HG01257.hp2
HG01258.hp1
HG03098.hp1
 intron_variant MODIFIER c.331-7157C>T
c.331-7157C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36946151
chr21:36946296 G
G
 C
C
 1 a0001c0001t0001g0043
a0001c0001t0001g0043
 1 HG02300.hp1
HG02300.hp1
 intron_variant MODIFIER c.331-7302C>G
c.331-7302C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36946296
chr21:36946482 C
C
 T
T
 158 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(155): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0125
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0084
a0001c0001t0010g0213
a0001c0001t0011g0022
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0029g0051
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0039g0033
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0008c0012t0035g0069
a0009c0009t0012g0196
 158 HG00280.hp1
HG00438.hp1
HG00639.hp1
others(155): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.331-7488G>A
c.331-7488G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36946482
chr21:36946533 T
T
 C
C
 14 a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0012g0234
others(11): Show 
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0012g0234
a0001c0001t0018g0189
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0030g0257
a0001c0001t0037g0254
a0001c0001t0065g0252
a0001c0001t0069g0255
a0001c0001t0106g0253
a0001c0004t0017g0219
a0001c0004t0017g0220
a0003c0005t0092g0134
 14 HG01175.hp2
HG01952.hp2
HG02109.hp2
others(11): Show 
HG01175.hp2
HG01952.hp2
HG02109.hp2
HG02615.hp2
HG02622.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03225.hp2
HG04204.hp1
 intron_variant MODIFIER c.331-7539A>G
c.331-7539A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36946533
chr21:36946595 G
G
 T
T
 123 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(120): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0058
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0125
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0084
a0001c0001t0010g0213
a0001c0001t0011g0022
a0001c0001t0011g0118
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0019g0061
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0038g0054
a0001c0001t0039g0033
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0004c0019t0112g0258
a0005c0011t0033g0139
a0008c0012t0035g0069
a0009c0009t0012g0196
 123 HG00280.hp1
HG00438.hp1
HG00639.hp2
others(120): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02300.hp1
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04204.hp2
HG04228.hp1
NA18612.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.331-7601C>A
c.331-7601C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36946595
chr21:36946616 G
G
 A
A
 8 a0001c0001t0005g0052
a0001c0001t0019g0061
a0001c0001t0029g0051
others(5): Show 
a0001c0001t0005g0052
a0001c0001t0019g0061
a0001c0001t0029g0051
a0001c0001t0038g0054
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0004t0067g0067
a0009c0009t0012g0196
 8 HG01109.hp1
HG01884.hp2
HG01891.hp1
others(5): Show 
HG01109.hp1
HG01884.hp2
HG01891.hp1
HG02647.hp1
HG02818.hp2
HG02922.hp2
HG03453.hp2
NA19043.hp1
 intron_variant MODIFIER c.331-7622C>T
c.331-7622C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36946616
chr21:36946657 G
G
 C
C
 123 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(120): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0058
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0125
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0084
a0001c0001t0010g0213
a0001c0001t0011g0022
a0001c0001t0011g0118
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0019g0061
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0038g0054
a0001c0001t0039g0033
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0004c0019t0112g0258
a0005c0011t0033g0139
a0008c0012t0035g0069
a0009c0009t0012g0196
 123 HG00280.hp1
HG00438.hp1
HG00639.hp2
others(120): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02300.hp1
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04204.hp2
HG04228.hp1
NA18612.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.331-7663C>G
c.331-7663C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36946657
chr21:36946877 A
A
 G
G
 1 a0001c0003t0003g0199
a0001c0003t0003g0199
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.331-7883T>C
c.331-7883T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36946877
chr21:36946928 T
T
 C
C
 3 a0001c0001t0018g0176
a0001c0001t0051g0168
a0001c0013t0022g0177
a0001c0001t0018g0176
a0001c0001t0051g0168
a0001c0013t0022g0177
 3 HG02886.hp2
HG02896.hp2
HG03130.hp1
HG02886.hp2
HG02896.hp2
HG03130.hp1
 intron_variant MODIFIER c.331-7934A>G
c.331-7934A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36946928
chr21:36946956 C
C
 A
A
 1 a0003c0005t0027g0218
a0003c0005t0027g0218
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.331-7962G>T
c.331-7962G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36946956
chr21:36947103 G
G
 A
A
 1 a0001c0001t0001g0128
a0001c0001t0001g0128
 1 HG01070.hp2
HG01070.hp2
 intron_variant MODIFIER c.331-8109C>T
c.331-8109C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36947103
chr21:36947103 G
G
 C
C
 97 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(94): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0058
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0125
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0084
a0001c0001t0011g0022
a0001c0001t0011g0118
a0001c0001t0014g0241
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0032g0081
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0039g0033
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0104g0114
a0001c0001t0110g0023
a0001c0004t0004g0046
a0001c0004t0068g0088
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0018t0004g0060
a0004c0019t0112g0258
a0008c0012t0035g0069
 97 HG00280.hp1
HG00438.hp1
HG00639.hp2
others(94): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02257.hp2
HG02300.hp1
HG02523.hp1
HG02602.hp2
HG02622.hp1
HG02683.hp1
HG02717.hp1
HG02818.hp1
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03490.hp1
HG03492.hp1
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04204.hp2
HG04228.hp1
NA18612.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.331-8109C>G
c.331-8109C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36947103
chr21:36947147 T
T
 C
C
 1 a0001c0001t0004g0138
a0001c0001t0004g0138
 1 HG01175.hp1
HG01175.hp1
 intron_variant MODIFIER c.331-8153A>G
c.331-8153A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36947147
chr21:36947448 G
G
 A
A
 18 a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
others(15): Show 
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
 18 HG00639.hp1
HG02135.hp2
HG02280.hp2
others(15): Show 
HG00639.hp1
HG02135.hp2
HG02280.hp2
HG02559.hp2
HG02602.hp1
HG02723.hp1
HG03041.hp1
HG03139.hp2
HG03209.hp2
HG03471.hp1
HG03516.hp2
HG03579.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18951.hp1
NA18961.hp1
NA19088.hp1
 intron_variant MODIFIER c.331-8454C>T
c.331-8454C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36947448
chr21:36947563 C
C
 T
T
 1 a0005c0011t0033g0139
a0005c0011t0033g0139
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.331-8569G>A
c.331-8569G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36947563
chr21:36947706 C
C
 G
G
 97 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(94): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0058
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0125
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0084
a0001c0001t0011g0022
a0001c0001t0011g0118
a0001c0001t0014g0241
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0032g0081
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0039g0033
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0104g0114
a0001c0001t0110g0023
a0001c0004t0004g0046
a0001c0004t0068g0088
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0018t0004g0060
a0004c0019t0112g0258
a0008c0012t0035g0069
 97 HG00280.hp1
HG00438.hp1
HG00639.hp2
others(94): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02257.hp2
HG02300.hp1
HG02523.hp1
HG02602.hp2
HG02622.hp1
HG02683.hp1
HG02717.hp1
HG02818.hp1
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03490.hp1
HG03492.hp1
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04204.hp2
HG04228.hp1
NA18612.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.331-8712G>C
c.331-8712G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36947706
chr21:36947707 T
T
 G
G
 97 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(94): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0058
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0125
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0084
a0001c0001t0011g0022
a0001c0001t0011g0118
a0001c0001t0014g0241
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0032g0081
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0039g0033
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0104g0114
a0001c0001t0110g0023
a0001c0004t0004g0046
a0001c0004t0068g0088
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0018t0004g0060
a0004c0019t0112g0258
a0008c0012t0035g0069
 97 HG00280.hp1
HG00438.hp1
HG00639.hp2
others(94): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02257.hp2
HG02300.hp1
HG02523.hp1
HG02602.hp2
HG02622.hp1
HG02683.hp1
HG02717.hp1
HG02818.hp1
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03490.hp1
HG03492.hp1
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04204.hp2
HG04228.hp1
NA18612.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.331-8713A>C
c.331-8713A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36947707
chr21:36947741 C
C
 CG
CG
 4 a0001c0001t0001g0006
a0001c0001t0004g0007
a0001c0001t0083g0013
others(1): Show 
a0001c0001t0001g0006
a0001c0001t0004g0007
a0001c0001t0083g0013
a0001c0001t0101g0008
 4 HG00738.hp1
HG01081.hp2
HG01243.hp2
others(1): Show 
HG00738.hp1
HG01081.hp2
HG01243.hp2
HG01516.hp1
 intron_variant MODIFIER c.331-8748dupC
c.331-8748dupC
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36947741
chr21:36947875 T
T
 G
G
 2 a0002c0002t0018g0153
a0002c0002t0043g0152
a0002c0002t0018g0153
a0002c0002t0043g0152
 2 HG03471.hp1
NA18522.hp2
HG03471.hp1
NA18522.hp2
 intron_variant MODIFIER c.331-8881A>C
c.331-8881A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36947875
chr21:36947919 C
C
 T
T
 1 a0001c0001t0037g0254
a0001c0001t0037g0254
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.331-8925G>A
c.331-8925G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36947919
chr21:36948260 C
C
 T
T
 8 a0001c0001t0005g0052
a0001c0001t0019g0061
a0001c0001t0029g0051
others(5): Show 
a0001c0001t0005g0052
a0001c0001t0019g0061
a0001c0001t0029g0051
a0001c0001t0038g0054
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0004t0067g0067
a0009c0009t0012g0196
 8 HG01109.hp1
HG01884.hp2
HG01891.hp1
others(5): Show 
HG01109.hp1
HG01884.hp2
HG01891.hp1
HG02647.hp1
HG02818.hp2
HG02922.hp2
HG03453.hp2
NA19043.hp1
 intron_variant MODIFIER c.331-9266G>A
c.331-9266G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36948260
chr21:36948291 GA
GA
 G
G
 126 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(123): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0032
a0001c0001t0004g0058
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0125
a0001c0001t0006g0256
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0084
a0001c0001t0010g0213
a0001c0001t0011g0022
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0029g0051
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0032g0081
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0039g0033
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0090g0005
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0018t0004g0060
a0002c0002t0048g0144
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0004c0019t0112g0258
a0008c0012t0035g0069
a0009c0009t0012g0196
 126 HG00280.hp1
HG00438.hp1
HG00639.hp2
others(123): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02135.hp1
HG02257.hp2
HG02280.hp1
HG02300.hp1
HG02523.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18612.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.331-9298delT
c.331-9298delT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36948291
chr21:36948291 GAA
GAA
 G
G
 5 a0001c0001t0019g0247
a0001c0001t0031g0245
a0001c0001t0073g0246
others(2): Show 
a0001c0001t0019g0247
a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0001t0110g0023
a0001c0004t0072g0248
 5 HG02559.hp1
HG03471.hp2
HG03516.hp1
others(2): Show 
HG02559.hp1
HG03471.hp2
HG03516.hp1
NA18968.hp1
NA19240.hp1
 intron_variant MODIFIER c.331-9299_331-9298d
others(4): Show 
c.331-9299_331-9298delTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36948291
chr21:36948471 G
G
 A
A
 3 a0001c0001t0071g0089
a0001c0001t0099g0124
a0001c0004t0068g0088
a0001c0001t0071g0089
a0001c0001t0099g0124
a0001c0004t0068g0088
 3 HG03195.hp2
NA19030.hp2
NA19240.hp2
HG03195.hp2
NA19030.hp2
NA19240.hp2
 intron_variant MODIFIER c.331-9477C>T
c.331-9477C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36948471
chr21:36948510 G
G
 A
A
 18 a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
others(15): Show 
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
 18 HG00639.hp1
HG02135.hp2
HG02280.hp2
others(15): Show 
HG00639.hp1
HG02135.hp2
HG02280.hp2
HG02559.hp2
HG02602.hp1
HG02723.hp1
HG03041.hp1
HG03139.hp2
HG03209.hp2
HG03471.hp1
HG03516.hp2
HG03579.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18951.hp1
NA18961.hp1
NA19088.hp1
 intron_variant MODIFIER c.331-9516C>T
c.331-9516C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36948510
chr21:36948524 G
G
 A
A
 4 a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0004t0017g0219
others(1): Show 
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0004t0017g0219
a0001c0004t0017g0220
 4 HG02896.hp1
HG02897.hp2
HG03098.hp2
others(1): Show 
HG02896.hp1
HG02897.hp2
HG03098.hp2
HG03225.hp2
 intron_variant MODIFIER c.331-9530C>T
c.331-9530C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36948524
chr21:36948530 G
G
 A
A
 3 a0001c0001t0005g0135
a0001c0001t0029g0136
a0001c0001t0093g0133
a0001c0001t0005g0135
a0001c0001t0029g0136
a0001c0001t0093g0133
 3 HG01099.hp2
HG02615.hp1
HG02809.hp1
HG01099.hp2
HG02615.hp1
HG02809.hp1
 intron_variant MODIFIER c.331-9536C>T
c.331-9536C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36948530
chr21:36948553 AACCCCAT
others(39): Show 
AACCCCATCTCTACTAAAAACAAAAGACTAGCTGGGTGTGGTGGCAC
 A
A
 2 a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0004g0045
a0001c0001t0004g0138
 2 HG01175.hp1
HG02486.hp1
HG01175.hp1
HG02486.hp1
 intron_variant MODIFIER c.331-9605_331-9560d
others(48): Show 
c.331-9605_331-9560delGTGCCACCACACCCAGCTAGTCTTTTGT
TTTTAGTAGAGATGGGGT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36948553
chr21:36948602 G
G
 A
A
 123 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(120): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0058
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0125
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0084
a0001c0001t0010g0213
a0001c0001t0011g0022
a0001c0001t0011g0118
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0019g0061
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0038g0054
a0001c0001t0039g0033
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0004c0019t0112g0258
a0005c0011t0033g0139
a0008c0012t0035g0069
a0009c0009t0012g0196
 123 HG00280.hp1
HG00438.hp1
HG00639.hp2
others(120): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02300.hp1
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04204.hp2
HG04228.hp1
NA18612.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.331-9608C>T
c.331-9608C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36948602
chr21:36948728 C
C
 CA
CA
 10 a0001c0001t0005g0115
a0001c0001t0007g0194
a0001c0001t0010g0229
others(7): Show 
a0001c0001t0005g0115
a0001c0001t0007g0194
a0001c0001t0010g0229
a0001c0003t0003g0199
a0001c0003t0012g0205
a0001c0003t0050g0206
a0002c0002t0002g0154
a0002c0002t0003g0156
a0002c0002t0027g0157
a0002c0002t0040g0242
 10 HG01106.hp1
HG01255.hp2
HG02135.hp2
others(7): Show 
HG01106.hp1
HG01255.hp2
HG02135.hp2
HG02559.hp2
HG03669.hp1
HG03831.hp2
HG04115.hp2
NA18951.hp1
NA18961.hp1
NA18967.hp1
 intron_variant MODIFIER c.331-9735dupT
c.331-9735dupT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36948728
chr21:36948728 C
C
 CAA
CAA
 5 a0001c0001t0005g0056
a0001c0001t0008g0064
a0001c0001t0011g0022
others(2): Show 
a0001c0001t0005g0056
a0001c0001t0008g0064
a0001c0001t0011g0022
a0001c0001t0032g0081
a0001c0001t0083g0013
 5 HG01081.hp2
HG02257.hp2
HG03490.hp1
others(2): Show 
HG01081.hp2
HG02257.hp2
HG03490.hp1
NA18942.hp1
NA18977.hp1
 intron_variant MODIFIER c.331-9736_331-9735d
others(4): Show 
c.331-9736_331-9735dupTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36948728
chr21:36948728 C
C
 CAAA
CAAA
 57 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(54): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0005g0003
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0065
a0001c0001t0014g0241
a0001c0001t0016g0047
a0001c0001t0019g0247
a0001c0001t0020g0034
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0034g0030
a0001c0001t0039g0033
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0075g0049
a0001c0001t0079g0026
a0001c0001t0081g0016
a0001c0001t0084g0075
a0001c0001t0090g0005
a0001c0001t0094g0031
a0001c0001t0096g0025
a0001c0001t0098g0035
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0110g0023
a0001c0004t0004g0046
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0010t0011g0020
a0001c0018t0004g0060
a0008c0012t0035g0069
 57 HG00280.hp1
HG00438.hp1
HG00639.hp2
others(54): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp2
HG00673.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01106.hp2
HG01123.hp2
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01515.hp1
HG01516.hp1
HG01975.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02300.hp1
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02717.hp1
HG02818.hp1
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp2
HG03492.hp1
HG03516.hp1
HG03704.hp1
HG03710.hp1
HG04204.hp2
NA18940.hp1
NA18941.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp2
NA18959.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18993.hp1
NA19009.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19240.hp1
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.331-9737_331-9735d
others(5): Show 
c.331-9737_331-9735dupTTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36948728
chr21:36948728 C
C
 CAAAA
CAAAA
 23 a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
others(20): Show 
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0071
a0001c0001t0004g0058
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0015g0190
a0001c0001t0020g0002
a0001c0001t0034g0070
a0001c0001t0056g0198
a0001c0001t0077g0039
a0001c0001t0086g0044
a0001c0001t0091g0042
a0001c0001t0097g0038
a0001c0001t0099g0124
a0001c0006t0023g0212
a0001c0008t0008g0001
a0001c0017t0108g0082
a0003c0005t0002g0195
a0003c0005t0058g0214
a0004c0019t0112g0258
 23 HG01099.hp1
HG01192.hp2
HG01361.hp1
others(20): Show 
HG01099.hp1
HG01192.hp2
HG01361.hp1
HG01433.hp1
HG01952.hp1
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02080.hp2
HG02683.hp1
HG02965.hp1
HG03195.hp1
HG03209.hp1
HG03540.hp2
HG04115.hp1
HG04228.hp1
NA18950.hp1
NA18961.hp2
NA18967.hp2
NA19004.hp1
NA19030.hp2
NA19043.hp2
NA20129.hp1
 intron_variant MODIFIER c.331-9738_331-9735d
others(6): Show 
c.331-9738_331-9735dupTTTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36948728
chr21:36948728 C
C
 CAAAAA
CAAAAA
 9 a0001c0001t0005g0052
a0001c0001t0015g0141
a0001c0001t0019g0061
others(6): Show 
a0001c0001t0005g0052
a0001c0001t0015g0141
a0001c0001t0019g0061
a0001c0001t0038g0054
a0001c0001t0105g0053
a0001c0004t0067g0067
a0001c0006t0023g0222
a0003c0005t0027g0218
a0009c0009t0012g0196
 9 HG01109.hp1
HG01884.hp2
HG01891.hp1
others(6): Show 
HG01109.hp1
HG01884.hp2
HG01891.hp1
HG02145.hp1
HG02647.hp1
HG02922.hp2
HG03453.hp1
HG03579.hp1
NA19043.hp1
 intron_variant MODIFIER c.331-9739_331-9735d
others(7): Show 
c.331-9739_331-9735dupTTTTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36948728
chr21:36948728 CA
CA
 C
C
 73 a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
others(70): Show 
a0001c0001t0001g0077
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0113
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0249
a0001c0001t0011g0103
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0101
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0030g0257
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0037g0254
a0001c0001t0038g0102
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0065g0252
a0001c0001t0069g0255
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0103g0100
a0001c0001t0106g0253
a0001c0001t0109g0119
a0001c0003t0111g0137
a0001c0004t0017g0219
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0013t0022g0177
a0003c0005t0092g0134
a0006c0016t0001g0116
a0007c0014t0070g0131
 73 HG00280.hp2
HG00323.hp2
HG00438.hp2
others(70): Show 
HG00280.hp2
HG00323.hp2
HG00438.hp2
HG00735.hp1
HG00741.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01168.hp2
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp1
HG01496.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02040.hp1
HG02083.hp2
HG02109.hp2
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp2
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03490.hp2
HG03492.hp2
HG03540.hp1
HG03669.hp2
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04204.hp1
HG06807.hp2
NA18612.hp2
NA18941.hp2
NA18944.hp1
NA18945.hp2
NA18951.hp2
NA18959.hp1
NA18968.hp2
NA18970.hp2
NA18975.hp2
NA18989.hp1
NA18993.hp2
NA19030.hp1
NA19074.hp2
NA20805.hp2
 intron_variant MODIFIER c.331-9735delT
c.331-9735delT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36948728
chr21:36948728 CAAAAAAA
others(3): Show 
CAAAAAAAAAA
 C
C
 26 a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0005g0086
others(23): Show 
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0006g0085
a0001c0001t0006g0125
a0001c0001t0008g0084
a0001c0001t0010g0213
a0001c0001t0011g0118
a0001c0001t0015g0197
a0001c0001t0016g0091
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0047g0188
a0001c0001t0063g0208
a0001c0001t0074g0087
a0001c0001t0076g0090
a0001c0001t0080g0093
a0001c0001t0087g0095
a0001c0001t0095g0117
a0001c0001t0104g0114
 26 HG00673.hp1
HG00735.hp2
HG01123.hp1
others(23): Show 
HG00673.hp1
HG00735.hp2
HG01123.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01891.hp2
HG02027.hp2
HG02040.hp2
HG02280.hp1
HG02723.hp2
HG02886.hp1
HG02895.hp2
NA18612.hp1
NA18940.hp2
NA18944.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp2
NA19057.hp1
NA19084.hp2
NA19088.hp2
 intron_variant MODIFIER c.331-9744_331-9735d
others(12): Show 
c.331-9744_331-9735delTTTTTTTTTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36948728
chr21:36948881 T
T
 C
C
 3 a0001c0001t0006g0109
a0001c0001t0032g0111
a0001c0001t0085g0110
a0001c0001t0006g0109
a0001c0001t0032g0111
a0001c0001t0085g0110
 3 HG01975.hp1
HG02145.hp2
HG06807.hp2
HG01975.hp1
HG02145.hp2
HG06807.hp2
 intron_variant MODIFIER c.331-9887A>G
c.331-9887A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36948881
chr21:36948900 A
A
 C
C
 126 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(123): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0058
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0125
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0084
a0001c0001t0010g0213
a0001c0001t0011g0022
a0001c0001t0011g0118
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0019g0061
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0038g0054
a0001c0001t0039g0033
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0004c0019t0112g0258
a0005c0011t0033g0139
a0008c0012t0035g0069
a0009c0009t0012g0196
 126 HG00280.hp1
HG00438.hp1
HG00639.hp2
others(123): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02300.hp1
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04204.hp2
HG04228.hp1
NA18612.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.331-9906T>G
c.331-9906T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36948900
chr21:36948932 A
A
 G
G
 1 a0002c0002t0043g0152
a0002c0002t0043g0152
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.331-9938T>C
c.331-9938T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36948932
chr21:36949158 C
C
 T
T
 5 a0001c0001t0002g0193
a0001c0001t0010g0249
a0001c0001t0028g0192
others(2): Show 
a0001c0001t0002g0193
a0001c0001t0010g0249
a0001c0001t0028g0192
a0001c0001t0044g0161
a0001c0004t0017g0224
 5 HG02486.hp2
HG02572.hp1
HG02647.hp2
others(2): Show 
HG02486.hp2
HG02572.hp1
HG02647.hp2
HG02922.hp1
HG03139.hp1
 intron_variant MODIFIER c.331-10164G>A
c.331-10164G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36949158
chr21:36949333 A
A
 C
C
 126 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(123): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0058
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0125
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0084
a0001c0001t0010g0213
a0001c0001t0011g0022
a0001c0001t0011g0118
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0019g0061
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0038g0054
a0001c0001t0039g0033
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0004c0019t0112g0258
a0005c0011t0033g0139
a0008c0012t0035g0069
a0009c0009t0012g0196
 126 HG00280.hp1
HG00438.hp1
HG00639.hp2
others(123): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02300.hp1
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04204.hp2
HG04228.hp1
NA18612.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.331-10339T>G
c.331-10339T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36949333
chr21:36949398 A
A
 C
C
 126 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(123): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0058
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0125
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0084
a0001c0001t0010g0213
a0001c0001t0011g0022
a0001c0001t0011g0118
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0019g0061
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0038g0054
a0001c0001t0039g0033
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0004c0019t0112g0258
a0005c0011t0033g0139
a0008c0012t0035g0069
a0009c0009t0012g0196
 126 HG00280.hp1
HG00438.hp1
HG00639.hp2
others(123): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02300.hp1
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04204.hp2
HG04228.hp1
NA18612.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.331-10404T>G
c.331-10404T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36949398
chr21:36949454 G
G
 T
T
 1 a0001c0003t0003g0199
a0001c0003t0003g0199
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.331-10460C>A
c.331-10460C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36949454
chr21:36949464 T
T
 A
A
 4 a0001c0001t0001g0006
a0001c0001t0004g0007
a0001c0001t0083g0013
others(1): Show 
a0001c0001t0001g0006
a0001c0001t0004g0007
a0001c0001t0083g0013
a0001c0001t0101g0008
 4 HG00738.hp1
HG01081.hp2
HG01243.hp2
others(1): Show 
HG00738.hp1
HG01081.hp2
HG01243.hp2
HG01516.hp1
 intron_variant MODIFIER c.331-10470A>T
c.331-10470A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36949464
chr21:36949609 A
A
 G
G
 126 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(123): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0058
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0125
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0084
a0001c0001t0010g0213
a0001c0001t0011g0022
a0001c0001t0011g0118
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0019g0061
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0038g0054
a0001c0001t0039g0033
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0004c0019t0112g0258
a0005c0011t0033g0139
a0008c0012t0035g0069
a0009c0009t0012g0196
 126 HG00280.hp1
HG00438.hp1
HG00639.hp2
others(123): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02300.hp1
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04204.hp2
HG04228.hp1
NA18612.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.331-10615T>C
c.331-10615T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36949609
chr21:36949804 C
C
 T
T
 3 a0001c0001t0005g0135
a0001c0001t0029g0136
a0001c0001t0093g0133
a0001c0001t0005g0135
a0001c0001t0029g0136
a0001c0001t0093g0133
 3 HG01099.hp2
HG02615.hp1
HG02809.hp1
HG01099.hp2
HG02615.hp1
HG02809.hp1
 intron_variant MODIFIER c.331-10810G>A
c.331-10810G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36949804
chr21:36950015 G
G
 C
C
 25 a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0005g0086
others(22): Show 
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0006g0085
a0001c0001t0006g0125
a0001c0001t0008g0084
a0001c0001t0011g0118
a0001c0001t0016g0091
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0071g0089
a0001c0001t0074g0087
a0001c0001t0076g0090
a0001c0001t0080g0093
a0001c0001t0087g0095
a0001c0001t0095g0117
a0001c0001t0099g0124
a0001c0001t0104g0114
a0001c0004t0068g0088
 25 HG00673.hp1
HG00735.hp2
HG01123.hp1
others(22): Show 
HG00673.hp1
HG00735.hp2
HG01123.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01891.hp2
HG02027.hp2
HG02040.hp2
HG03195.hp2
NA18612.hp1
NA18940.hp2
NA18944.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp2
NA19030.hp2
NA19057.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp2
 intron_variant MODIFIER c.331-11021C>G
c.331-11021C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36950015
chr21:36950072 C
C
 A
A
 126 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(123): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0058
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0125
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0084
a0001c0001t0010g0213
a0001c0001t0011g0022
a0001c0001t0011g0118
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0019g0061
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0038g0054
a0001c0001t0039g0033
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0004c0019t0112g0258
a0005c0011t0033g0139
a0008c0012t0035g0069
a0009c0009t0012g0196
 126 HG00280.hp1
HG00438.hp1
HG00639.hp2
others(123): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02300.hp1
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04204.hp2
HG04228.hp1
NA18612.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.331-11078G>T
c.331-11078G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36950072
chr21:36950081 T
T
 C
C
 160 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(157): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0125
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0084
a0001c0001t0010g0213
a0001c0001t0011g0022
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0039g0033
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0008c0012t0035g0069
a0009c0009t0012g0196
 160 HG00280.hp1
HG00438.hp1
HG00639.hp1
others(157): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.331-11087A>G
c.331-11087A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36950081
chr21:36950179 TA
TA
 T
T
 126 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(123): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0058
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0125
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0084
a0001c0001t0010g0213
a0001c0001t0011g0022
a0001c0001t0011g0118
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0019g0061
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0038g0054
a0001c0001t0039g0033
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0004c0019t0112g0258
a0005c0011t0033g0139
a0008c0012t0035g0069
a0009c0009t0012g0196
 126 HG00280.hp1
HG00438.hp1
HG00639.hp2
others(123): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02300.hp1
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04204.hp2
HG04228.hp1
NA18612.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.331-11186delT
c.331-11186delT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36950179
chr21:36950270 G
G
 GTCCATTT
others(4): Show 
GTCCATTTGCCA
 142 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(139): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0125
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0084
a0001c0001t0010g0213
a0001c0001t0011g0022
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0039g0033
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0008c0012t0035g0069
a0009c0009t0012g0196
 142 HG00280.hp1
HG00438.hp1
HG00639.hp2
others(139): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02300.hp1
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp1
NA18612.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.331-11277_331-1127
others(15): Show 
c.331-11277_331-11276insTGGCAAATGGA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36950270
chr21:36950381 T
T
 A
A
 2 a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0004g0045
a0001c0001t0004g0138
 2 HG01175.hp1
HG02486.hp1
HG01175.hp1
HG02486.hp1
 intron_variant MODIFIER c.331-11387A>T
c.331-11387A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36950381
chr21:36950467 C
C
 CT
CT
 28 a0001c0001t0001g0080
a0001c0001t0002g0158
a0001c0001t0002g0160
others(25): Show 
a0001c0001t0001g0080
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0008g0078
a0001c0001t0009g0178
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0018g0176
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0013t0022g0177
 28 HG00280.hp2
HG00323.hp2
HG01070.hp1
others(25): Show 
HG00280.hp2
HG00323.hp2
HG01070.hp1
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG01496.hp1
HG01978.hp1
HG02300.hp2
HG02683.hp2
HG02886.hp2
HG02896.hp2
HG03130.hp1
HG03490.hp2
HG03492.hp2
HG03669.hp2
HG03704.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
NA18944.hp1
NA18948.hp2
NA18951.hp2
NA18968.hp2
NA18993.hp2
NA19004.hp2
NA19068.hp2
NA20805.hp2
 intron_variant MODIFIER c.331-11474dupA
c.331-11474dupA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36950467
chr21:36950467 CT
CT
 C
C
 17 a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0006g0132
others(14): Show 
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0012g0234
a0001c0001t0018g0189
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0030g0257
a0001c0001t0037g0254
a0001c0001t0065g0252
a0001c0001t0069g0255
a0001c0001t0106g0253
a0001c0004t0017g0219
a0001c0004t0017g0220
a0003c0005t0092g0134
a0005c0011t0033g0139
 17 HG01175.hp1
HG01175.hp2
HG01952.hp2
others(14): Show 
HG01175.hp1
HG01175.hp2
HG01952.hp2
HG02109.hp2
HG02486.hp1
HG02615.hp2
HG02622.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03225.hp2
HG04204.hp1
 intron_variant MODIFIER c.331-11474delA
c.331-11474delA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36950467
chr21:36950491 G
G
 A
A
 1 a0001c0001t0100g0073
a0001c0001t0100g0073
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.331-11497C>T
c.331-11497C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36950491
chr21:36950492 G
G
 T
T
 126 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(123): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0058
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0125
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0084
a0001c0001t0010g0213
a0001c0001t0011g0022
a0001c0001t0011g0118
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0019g0061
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0038g0054
a0001c0001t0039g0033
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0004c0019t0112g0258
a0005c0011t0033g0139
a0008c0012t0035g0069
a0009c0009t0012g0196
 126 HG00280.hp1
HG00438.hp1
HG00639.hp2
others(123): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02300.hp1
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04204.hp2
HG04228.hp1
NA18612.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.331-11498C>A
c.331-11498C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36950492
chr21:36950527 T
T
 C
C
 1 a0001c0001t0031g0057
a0001c0001t0031g0057
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.330+11509A>G
c.330+11509A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36950527
chr21:36950582 A
A
 G
G
 14 a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0012g0234
others(11): Show 
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0012g0234
a0001c0001t0018g0189
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0030g0257
a0001c0001t0037g0254
a0001c0001t0065g0252
a0001c0001t0069g0255
a0001c0001t0106g0253
a0001c0004t0017g0219
a0001c0004t0017g0220
a0003c0005t0092g0134
 14 HG01175.hp2
HG01952.hp2
HG02109.hp2
others(11): Show 
HG01175.hp2
HG01952.hp2
HG02109.hp2
HG02615.hp2
HG02622.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03225.hp2
HG04204.hp1
 intron_variant MODIFIER c.330+11454T>C
c.330+11454T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36950582
chr21:36950637 AT
AT
 A
A
 126 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(123): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0058
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0125
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0084
a0001c0001t0010g0213
a0001c0001t0011g0022
a0001c0001t0011g0118
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0019g0061
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0038g0054
a0001c0001t0039g0033
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0004c0019t0112g0258
a0005c0011t0033g0139
a0008c0012t0035g0069
a0009c0009t0012g0196
 126 HG00280.hp1
HG00438.hp1
HG00639.hp2
others(123): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02300.hp1
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04204.hp2
HG04228.hp1
NA18612.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.330+11398delA
c.330+11398delA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36950637
chr21:36950677 A
A
 G
G
 129 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(126): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0058
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0125
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0084
a0001c0001t0010g0213
a0001c0001t0011g0022
a0001c0001t0011g0118
a0001c0001t0013g0223
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0019g0061
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0038g0054
a0001c0001t0039g0033
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0004c0019t0112g0258
a0005c0011t0033g0139
a0008c0012t0035g0069
a0009c0009t0012g0196
 129 HG00280.hp1
HG00438.hp1
HG00639.hp2
others(126): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02300.hp1
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04204.hp2
HG04228.hp1
NA18612.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.330+11359T>C
c.330+11359T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36950677
chr21:36950986 C
C
 T
T
 126 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(123): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0058
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0125
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0084
a0001c0001t0010g0213
a0001c0001t0011g0022
a0001c0001t0011g0118
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0019g0061
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0038g0054
a0001c0001t0039g0033
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0004c0019t0112g0258
a0005c0011t0033g0139
a0008c0012t0035g0069
a0009c0009t0012g0196
 126 HG00280.hp1
HG00438.hp1
HG00639.hp2
others(123): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02300.hp1
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04204.hp2
HG04228.hp1
NA18612.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.330+11050G>A
c.330+11050G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36950986
chr21:36951026 G
G
 A
A
 126 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(123): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0058
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0125
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0084
a0001c0001t0010g0213
a0001c0001t0011g0022
a0001c0001t0011g0118
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0019g0061
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0038g0054
a0001c0001t0039g0033
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0004c0019t0112g0258
a0005c0011t0033g0139
a0008c0012t0035g0069
a0009c0009t0012g0196
 126 HG00280.hp1
HG00438.hp1
HG00639.hp2
others(123): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02300.hp1
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04204.hp2
HG04228.hp1
NA18612.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.330+11010C>T
c.330+11010C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36951026
chr21:36951027 T
T
 C
C
 1 a0001c0001t0001g0074
a0001c0001t0001g0074
 1 HG01169.hp2
HG01169.hp2
 intron_variant MODIFIER c.330+11009A>G
c.330+11009A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36951027
chr21:36951228 G
G
 A
A
 126 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(123): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0058
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0125
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0084
a0001c0001t0010g0213
a0001c0001t0011g0022
a0001c0001t0011g0118
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0019g0061
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0038g0054
a0001c0001t0039g0033
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0004c0019t0112g0258
a0005c0011t0033g0139
a0008c0012t0035g0069
a0009c0009t0012g0196
 126 HG00280.hp1
HG00438.hp1
HG00639.hp2
others(123): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02300.hp1
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04204.hp2
HG04228.hp1
NA18612.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.330+10808C>T
c.330+10808C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36951228
chr21:36951266 C
C
 T
T
 126 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(123): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0058
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0125
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0084
a0001c0001t0010g0213
a0001c0001t0011g0022
a0001c0001t0011g0118
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0019g0061
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0038g0054
a0001c0001t0039g0033
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0004c0019t0112g0258
a0005c0011t0033g0139
a0008c0012t0035g0069
a0009c0009t0012g0196
 126 HG00280.hp1
HG00438.hp1
HG00639.hp2
others(123): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02300.hp1
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04204.hp2
HG04228.hp1
NA18612.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.330+10770G>A
c.330+10770G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36951266
chr21:36951590 G
G
 A
A
 1 a0001c0001t0010g0169
a0001c0001t0010g0169
 1 NA18944.hp1
NA18944.hp1
 intron_variant MODIFIER c.330+10446C>T
c.330+10446C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36951590
chr21:36951670 A
A
 C
C
 126 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(123): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0058
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0125
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0084
a0001c0001t0010g0213
a0001c0001t0011g0022
a0001c0001t0011g0118
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0019g0061
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0038g0054
a0001c0001t0039g0033
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0004c0019t0112g0258
a0005c0011t0033g0139
a0008c0012t0035g0069
a0009c0009t0012g0196
 126 HG00280.hp1
HG00438.hp1
HG00639.hp2
others(123): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02300.hp1
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04204.hp2
HG04228.hp1
NA18612.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.330+10366T>G
c.330+10366T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36951670
chr21:36951761 C
C
 A
A
 12 a0001c0001t0006g0256
a0001c0001t0012g0234
a0001c0001t0018g0189
others(9): Show 
a0001c0001t0006g0256
a0001c0001t0012g0234
a0001c0001t0018g0189
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0030g0257
a0001c0001t0037g0254
a0001c0001t0065g0252
a0001c0001t0069g0255
a0001c0001t0106g0253
a0001c0004t0017g0219
a0001c0004t0017g0220
 12 HG01952.hp2
HG02109.hp2
HG02615.hp2
others(9): Show 
HG01952.hp2
HG02109.hp2
HG02615.hp2
HG02622.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03225.hp2
HG04204.hp1
 intron_variant MODIFIER c.330+10275G>T
c.330+10275G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36951761
chr21:36951996 T
T
 G
G
 126 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(123): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0058
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0125
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0084
a0001c0001t0010g0213
a0001c0001t0011g0022
a0001c0001t0011g0118
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0019g0061
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0038g0054
a0001c0001t0039g0033
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0004c0019t0112g0258
a0005c0011t0033g0139
a0008c0012t0035g0069
a0009c0009t0012g0196
 126 HG00280.hp1
HG00438.hp1
HG00639.hp2
others(123): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02300.hp1
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04204.hp2
HG04228.hp1
NA18612.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.330+10040A>C
c.330+10040A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36951996
chr21:36952090 T
T
 A
A
 123 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(120): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0058
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0125
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0084
a0001c0001t0010g0213
a0001c0001t0011g0022
a0001c0001t0011g0118
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0019g0061
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0038g0054
a0001c0001t0039g0033
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0004c0019t0112g0258
a0005c0011t0033g0139
a0008c0012t0035g0069
a0009c0009t0012g0196
 123 HG00280.hp1
HG00438.hp1
HG00639.hp2
others(120): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02300.hp1
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02622.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04204.hp2
HG04228.hp1
NA18612.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.330+9946A>T
c.330+9946A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36952090
chr21:36952371 G
G
 A
A
 1 a0001c0001t0004g0138
a0001c0001t0004g0138
 1 HG01175.hp1
HG01175.hp1
 intron_variant MODIFIER c.330+9665C>T
c.330+9665C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36952371
chr21:36952424 T
T
 C
C
 126 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(123): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0058
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0125
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0084
a0001c0001t0010g0213
a0001c0001t0011g0022
a0001c0001t0011g0118
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0019g0061
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0038g0054
a0001c0001t0039g0033
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0004c0019t0112g0258
a0005c0011t0033g0139
a0008c0012t0035g0069
a0009c0009t0012g0196
 126 HG00280.hp1
HG00438.hp1
HG00639.hp2
others(123): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02300.hp1
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04204.hp2
HG04228.hp1
NA18612.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.330+9612A>G
c.330+9612A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36952424
chr21:36952516 G
G
 A
A
 4 a0001c0001t0019g0247
a0001c0001t0031g0245
a0001c0001t0073g0246
others(1): Show 
a0001c0001t0019g0247
a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0004t0072g0248
 4 HG02559.hp1
HG03471.hp2
HG03516.hp1
others(1): Show 
HG02559.hp1
HG03471.hp2
HG03516.hp1
NA19240.hp1
 intron_variant MODIFIER c.330+9520C>T
c.330+9520C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36952516
chr21:36952522 G
G
 A
A
 1 a0001c0001t0001g0043
a0001c0001t0001g0043
 1 HG02300.hp1
HG02300.hp1
 intron_variant MODIFIER c.330+9514C>T
c.330+9514C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36952522
chr21:36952564 C
C
 T
T
 13 a0001c0001t0005g0135
a0001c0001t0006g0256
a0001c0001t0012g0234
others(10): Show 
a0001c0001t0005g0135
a0001c0001t0006g0256
a0001c0001t0012g0234
a0001c0001t0018g0189
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0030g0257
a0001c0001t0037g0254
a0001c0001t0065g0252
a0001c0001t0069g0255
a0001c0001t0106g0253
a0001c0004t0017g0219
a0001c0004t0017g0220
 13 HG01952.hp2
HG02109.hp2
HG02615.hp1
others(10): Show 
HG01952.hp2
HG02109.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03225.hp2
HG04204.hp1
 intron_variant MODIFIER c.330+9472G>A
c.330+9472G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36952564
chr21:36952582 A
A
 G
G
 2 a0001c0001t0005g0021
a0001c0010t0011g0020
a0001c0001t0005g0021
a0001c0010t0011g0020
 2 NA18950.hp1
NA18970.hp1
NA18950.hp1
NA18970.hp1
 intron_variant MODIFIER c.330+9454T>C
c.330+9454T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36952582
chr21:36952706 G
G
 C
C
 10 a0001c0001t0001g0092
a0001c0001t0005g0094
a0001c0001t0011g0118
others(7): Show 
a0001c0001t0001g0092
a0001c0001t0005g0094
a0001c0001t0011g0118
a0001c0001t0016g0091
a0001c0001t0020g0121
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0076g0090
a0001c0001t0080g0093
a0001c0001t0095g0117
 10 HG00673.hp1
HG01496.hp2
HG02027.hp2
others(7): Show 
HG00673.hp1
HG01496.hp2
HG02027.hp2
NA18940.hp2
NA18947.hp1
NA18979.hp2
NA18984.hp2
NA19057.hp1
NA19084.hp2
NA19088.hp2
 intron_variant MODIFIER c.330+9330C>G
c.330+9330C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36952706
chr21:36952789 C
C
 CA
CA
 24 a0001c0001t0002g0171
a0001c0001t0002g0193
a0001c0001t0004g0045
others(21): Show 
a0001c0001t0002g0171
a0001c0001t0002g0193
a0001c0001t0004g0045
a0001c0001t0006g0125
a0001c0001t0010g0169
a0001c0001t0018g0176
a0001c0001t0030g0257
a0001c0001t0034g0070
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0075g0049
a0001c0001t0082g0112
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0004t0042g0209
a0001c0006t0023g0222
a0001c0007t0012g0207
a0001c0013t0022g0177
a0002c0002t0018g0153
a0002c0002t0043g0152
a0003c0005t0092g0134
a0008c0012t0035g0069
 24 HG00735.hp1
HG01123.hp1
HG01175.hp2
others(21): Show 
HG00735.hp1
HG01123.hp1
HG01175.hp2
HG01981.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp2
HG02886.hp2
HG02896.hp2
HG03130.hp1
HG03209.hp1
HG03471.hp1
HG03831.hp1
HG04115.hp1
NA18522.hp2
NA18940.hp1
NA18944.hp1
NA18961.hp2
NA18977.hp2
NA18979.hp1
NA18989.hp2
 intron_variant MODIFIER c.330+9246dupT
c.330+9246dupT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36952789
chr21:36952835 CAAG
CAAG
 C
C
 3 a0001c0001t0002g0171
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0002g0171
a0001c0001t0007g0162
a0001c0001t0007g0170
 3 HG00323.hp2
HG01496.hp1
HG03831.hp1
HG00323.hp2
HG01496.hp1
HG03831.hp1
 intron_variant MODIFIER c.330+9198_330+9200d
others(5): Show 
c.330+9198_330+9200delCTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36952835
chr21:36952894 C
C
 T
T
 126 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(123): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0058
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0125
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0084
a0001c0001t0010g0213
a0001c0001t0011g0022
a0001c0001t0011g0118
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0019g0061
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0038g0054
a0001c0001t0039g0033
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0004c0019t0112g0258
a0005c0011t0033g0139
a0008c0012t0035g0069
a0009c0009t0012g0196
 126 HG00280.hp1
HG00438.hp1
HG00639.hp2
others(123): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02300.hp1
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04204.hp2
HG04228.hp1
NA18612.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.330+9142G>A
c.330+9142G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36952894
chr21:36953033 G
G
 A
A
 1 a0001c0001t0018g0189
a0001c0001t0018g0189
 1 HG01952.hp2
HG01952.hp2
 intron_variant MODIFIER c.330+9003C>T
c.330+9003C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36953033
chr21:36953145 C
C
 G
G
 1 a0001c0001t0006g0019
a0001c0001t0006g0019
 1 NA19009.hp1
NA19009.hp1
 intron_variant MODIFIER c.330+8891G>C
c.330+8891G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36953145
chr21:36953401 G
G
 A
A
 1 a0002c0002t0046g0150
a0002c0002t0046g0150
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.330+8635C>T
c.330+8635C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36953401
chr21:36953574 T
T
 C
C
 1 a0001c0001t0009g0178
a0001c0001t0009g0178
 1 HG00280.hp2
HG00280.hp2
 intron_variant MODIFIER c.330+8462A>G
c.330+8462A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36953574
chr21:36953802 C
C
 T
T
 64 a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
others(61): Show 
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0003g0244
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0058
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0056
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0011g0022
a0001c0001t0014g0241
a0001c0001t0016g0047
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0030g0048
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0039g0033
a0001c0001t0075g0049
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0081g0016
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0094g0031
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0100g0073
a0001c0001t0102g0063
a0001c0001t0110g0023
a0001c0004t0004g0046
a0001c0008t0008g0001
a0001c0010t0011g0020
a0004c0019t0112g0258
a0008c0012t0035g0069
 64 HG00280.hp1
HG00438.hp1
HG00639.hp2
others(61): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp2
HG00673.hp2
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01099.hp1
HG01123.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp1
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01515.hp1
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02300.hp1
HG02523.hp1
HG02602.hp2
HG02683.hp1
HG02818.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp1
HG03492.hp1
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04204.hp2
HG04228.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18948.hp1
NA18950.hp1
NA18952.hp2
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.330+8234G>A
c.330+8234G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36953802
chr21:36953834 T
T
 C
C
 126 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(123): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0058
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0125
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0084
a0001c0001t0010g0213
a0001c0001t0011g0022
a0001c0001t0011g0118
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0019g0061
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0038g0054
a0001c0001t0039g0033
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0004c0019t0112g0258
a0005c0011t0033g0139
a0008c0012t0035g0069
a0009c0009t0012g0196
 126 HG00280.hp1
HG00438.hp1
HG00639.hp2
others(123): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02300.hp1
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04204.hp2
HG04228.hp1
NA18612.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.330+8202A>G
c.330+8202A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36953834
chr21:36953844 T
T
 C
C
 1 a0001c0001t0056g0198
a0001c0001t0056g0198
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.330+8192A>G
c.330+8192A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36953844
chr21:36953915 C
C
 T
T
 14 a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0012g0234
others(11): Show 
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0012g0234
a0001c0001t0018g0189
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0030g0257
a0001c0001t0037g0254
a0001c0001t0065g0252
a0001c0001t0069g0255
a0001c0001t0106g0253
a0001c0004t0017g0219
a0001c0004t0017g0220
a0003c0005t0092g0134
 14 HG01175.hp2
HG01952.hp2
HG02109.hp2
others(11): Show 
HG01175.hp2
HG01952.hp2
HG02109.hp2
HG02615.hp2
HG02622.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03225.hp2
HG04204.hp1
 intron_variant MODIFIER c.330+8121G>A
c.330+8121G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36953915
chr21:36953979 CA
CA
 C
C
 3 a0001c0001t0031g0057
a0001c0001t0066g0059
a0001c0018t0004g0060
a0001c0001t0031g0057
a0001c0001t0066g0059
a0001c0018t0004g0060
 3 HG01106.hp2
HG02622.hp1
HG02717.hp1
HG01106.hp2
HG02622.hp1
HG02717.hp1
 intron_variant MODIFIER c.330+8056delT
c.330+8056delT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36953979
chr21:36954108 C
C
 T
T
 1 a0002c0002t0045g0151
a0002c0002t0045g0151
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.330+7928G>A
c.330+7928G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36954108
chr21:36954164 G
G
 A
A
 6 a0001c0001t0002g0193
a0001c0001t0010g0249
a0001c0001t0022g0187
others(3): Show 
a0001c0001t0002g0193
a0001c0001t0010g0249
a0001c0001t0022g0187
a0001c0001t0028g0192
a0001c0001t0044g0161
a0001c0004t0017g0224
 6 HG01884.hp1
HG02486.hp2
HG02572.hp1
others(3): Show 
HG01884.hp1
HG02486.hp2
HG02572.hp1
HG02647.hp2
HG02922.hp1
HG03139.hp1
 intron_variant MODIFIER c.330+7872C>T
c.330+7872C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36954164
chr21:36954165 G
G
 A
A
 12 a0001c0001t0006g0256
a0001c0001t0012g0234
a0001c0001t0018g0189
others(9): Show 
a0001c0001t0006g0256
a0001c0001t0012g0234
a0001c0001t0018g0189
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0030g0257
a0001c0001t0037g0254
a0001c0001t0065g0252
a0001c0001t0069g0255
a0001c0001t0106g0253
a0001c0004t0017g0219
a0001c0004t0017g0220
 12 HG01952.hp2
HG02109.hp2
HG02615.hp2
others(9): Show 
HG01952.hp2
HG02109.hp2
HG02615.hp2
HG02622.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03225.hp2
HG04204.hp1
 intron_variant MODIFIER c.330+7871C>T
c.330+7871C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36954165
chr21:36954223 T
T
 A
A
 1 a0006c0016t0001g0116
a0006c0016t0001g0116
 1 NA18989.hp1
NA18989.hp1
 intron_variant MODIFIER c.330+7813A>T
c.330+7813A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36954223
chr21:36954403 A
A
 G
G
 3 a0001c0001t0005g0135
a0001c0001t0029g0136
a0001c0001t0093g0133
a0001c0001t0005g0135
a0001c0001t0029g0136
a0001c0001t0093g0133
 3 HG01099.hp2
HG02615.hp1
HG02809.hp1
HG01099.hp2
HG02615.hp1
HG02809.hp1
 intron_variant MODIFIER c.330+7633T>C
c.330+7633T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36954403
chr21:36954421 T
T
 C
C
 1 a0001c0001t0087g0095
a0001c0001t0087g0095
 1 NA18989.hp2
NA18989.hp2
 intron_variant MODIFIER c.330+7615A>G
c.330+7615A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36954421
chr21:36954430 T
T
 A
A
 1 a0004c0019t0112g0258
a0004c0019t0112g0258
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.330+7606A>T
c.330+7606A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36954430
chr21:36954478 T
T
 C
C
 1 a0001c0003t0111g0137
a0001c0003t0111g0137
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.330+7558A>G
c.330+7558A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36954478
chr21:36954485 G
G
 A
A
 16 a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0006g0132
others(13): Show 
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0012g0234
a0001c0001t0018g0189
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0030g0257
a0001c0001t0037g0254
a0001c0001t0065g0252
a0001c0001t0069g0255
a0001c0001t0106g0253
a0001c0004t0017g0219
a0001c0004t0017g0220
a0003c0005t0092g0134
 16 HG01175.hp1
HG01175.hp2
HG01952.hp2
others(13): Show 
HG01175.hp1
HG01175.hp2
HG01952.hp2
HG02109.hp2
HG02486.hp1
HG02615.hp2
HG02622.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03225.hp2
HG04204.hp1
 intron_variant MODIFIER c.330+7551C>T
c.330+7551C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36954485
chr21:36954489 G
G
 A
A
 1 a0001c0001t0101g0008
a0001c0001t0101g0008
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.330+7547C>T
c.330+7547C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36954489
chr21:36954632 T
T
 C
C
 3 a0001c0001t0005g0135
a0001c0001t0029g0136
a0001c0001t0093g0133
a0001c0001t0005g0135
a0001c0001t0029g0136
a0001c0001t0093g0133
 3 HG01099.hp2
HG02615.hp1
HG02809.hp1
HG01099.hp2
HG02615.hp1
HG02809.hp1
 intron_variant MODIFIER c.330+7404A>G
c.330+7404A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36954632
chr21:36954743 TA
TA
 T
T
 126 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(123): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0058
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0125
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0084
a0001c0001t0010g0213
a0001c0001t0011g0022
a0001c0001t0011g0118
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0019g0061
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0038g0054
a0001c0001t0039g0033
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0004c0019t0112g0258
a0005c0011t0033g0139
a0008c0012t0035g0069
a0009c0009t0012g0196
 126 HG00280.hp1
HG00438.hp1
HG00639.hp2
others(123): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02300.hp1
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04204.hp2
HG04228.hp1
NA18612.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.330+7292delT
c.330+7292delT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36954743
chr21:36954746 A
A
 AAAAAC
AAAAAC
 15 a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
others(12): Show 
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0005g0115
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0229
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0049g0233
a0001c0001t0057g0225
a0001c0015t0052g0239
 15 HG01255.hp1
HG01361.hp2
HG02080.hp1
others(12): Show 
HG01255.hp1
HG01361.hp2
HG02080.hp1
HG03710.hp2
HG04115.hp2
HG04228.hp2
NA18939.hp1
NA18950.hp2
NA18967.hp1
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19084.hp1
NA20129.hp2
 intron_variant MODIFIER c.330+7285_330+7289d
others(7): Show 
c.330+7285_330+7289dupGTTTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36954746
chr21:36954800 T
T
 C
C
 3 a0001c0001t0006g0256
a0001c0001t0030g0257
a0001c0001t0069g0255
a0001c0001t0006g0256
a0001c0001t0030g0257
a0001c0001t0069g0255
 3 HG02615.hp2
HG02809.hp2
HG03130.hp2
HG02615.hp2
HG02809.hp2
HG03130.hp2
 intron_variant MODIFIER c.330+7236A>G
c.330+7236A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36954800
chr21:36954850 G
G
 T
T
 3 a0001c0001t0013g0223
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0013g0223
a0001c0001t0026g0250
a0001c0001t0026g0251
 3 HG01257.hp2
HG01258.hp1
HG03098.hp1
HG01257.hp2
HG01258.hp1
HG03098.hp1
 intron_variant MODIFIER c.330+7186C>A
c.330+7186C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36954850
chr21:36954993 G
G
 A
A
 3 a0001c0001t0005g0135
a0001c0001t0029g0136
a0001c0001t0093g0133
a0001c0001t0005g0135
a0001c0001t0029g0136
a0001c0001t0093g0133
 3 HG01099.hp2
HG02615.hp1
HG02809.hp1
HG01099.hp2
HG02615.hp1
HG02809.hp1
 intron_variant MODIFIER c.330+7043C>T
c.330+7043C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36954993
chr21:36955017 T
T
 C
C
 14 a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0012g0234
others(11): Show 
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0012g0234
a0001c0001t0018g0189
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0030g0257
a0001c0001t0037g0254
a0001c0001t0065g0252
a0001c0001t0069g0255
a0001c0001t0106g0253
a0001c0004t0017g0219
a0001c0004t0017g0220
a0003c0005t0092g0134
 14 HG01175.hp2
HG01952.hp2
HG02109.hp2
others(11): Show 
HG01175.hp2
HG01952.hp2
HG02109.hp2
HG02615.hp2
HG02622.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03225.hp2
HG04204.hp1
 intron_variant MODIFIER c.330+7019A>G
c.330+7019A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36955017
chr21:36955052 T
T
 G
G
 1 a0001c0001t0021g0076
a0001c0001t0021g0076
 1 HG01433.hp2
HG01433.hp2
 intron_variant MODIFIER c.330+6984A>C
c.330+6984A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36955052
chr21:36955177 G
G
 A
A
 125 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(122): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0058
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0125
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0084
a0001c0001t0010g0213
a0001c0001t0011g0022
a0001c0001t0011g0118
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0019g0061
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0038g0054
a0001c0001t0039g0033
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0004c0019t0112g0258
a0005c0011t0033g0139
a0008c0012t0035g0069
a0009c0009t0012g0196
 125 HG00280.hp1
HG00438.hp1
HG00673.hp1
others(122): Show 
HG00280.hp1
HG00438.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02300.hp1
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04204.hp2
HG04228.hp1
NA18612.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.330+6859C>T
c.330+6859C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36955177
chr21:36955542 AT
AT
 A
A
 125 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(122): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0058
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0125
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0084
a0001c0001t0010g0213
a0001c0001t0011g0022
a0001c0001t0011g0118
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0019g0061
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0038g0054
a0001c0001t0039g0033
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0004c0019t0112g0258
a0005c0011t0033g0139
a0008c0012t0035g0069
a0009c0009t0012g0196
 125 HG00280.hp1
HG00438.hp1
HG00673.hp1
others(122): Show 
HG00280.hp1
HG00438.hp1
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02300.hp1
HG02523.hp1
HG02559.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04204.hp2
HG04228.hp1
NA18612.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.330+6493delA
c.330+6493delA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36955542
chr21:36955585 C
C
 T
T
 1 a0001c0001t0004g0138
a0001c0001t0004g0138
 1 HG01175.hp1
HG01175.hp1
 intron_variant MODIFIER c.330+6451G>A
c.330+6451G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36955585
chr21:36955603 T
T
 TA
TA
 8 a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
others(5): Show 
a0001c0001t0010g0213
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0047g0188
a0001c0001t0056g0198
a0001c0001t0063g0208
a0003c0005t0058g0214
 8 HG02280.hp1
HG02723.hp2
HG02886.hp1
others(5): Show 
HG02280.hp1
HG02723.hp2
HG02886.hp1
HG02895.hp2
HG02965.hp1
HG03209.hp1
HG03453.hp1
HG03540.hp2
 intron_variant MODIFIER c.330+6432dupT
c.330+6432dupT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36955603
chr21:36955622 A
A
 C
C
 3 a0001c0001t0005g0135
a0001c0001t0029g0136
a0001c0001t0093g0133
a0001c0001t0005g0135
a0001c0001t0029g0136
a0001c0001t0093g0133
 3 HG01099.hp2
HG02615.hp1
HG02809.hp1
HG01099.hp2
HG02615.hp1
HG02809.hp1
 intron_variant MODIFIER c.330+6414T>G
c.330+6414T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36955622
chr21:36955623 GT
GT
 G
G
 3 a0001c0001t0005g0135
a0001c0001t0029g0136
a0001c0001t0093g0133
a0001c0001t0005g0135
a0001c0001t0029g0136
a0001c0001t0093g0133
 3 HG01099.hp2
HG02615.hp1
HG02809.hp1
HG01099.hp2
HG02615.hp1
HG02809.hp1
 intron_variant MODIFIER c.330+6412delA
c.330+6412delA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36955623
chr21:36956022 C
C
 T
T
 242 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(239): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0002g0193
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0178
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0176
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0028g0167
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0017g0224
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0013t0022g0177
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 242 HG00280.hp1
HG00280.hp2
HG00323.hp2
others(239): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.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
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA18993.hp2
NA19004.hp1
NA19004.hp2
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.330+6014G>A
c.330+6014G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36956022
chr21:36956027 A
A
 G
G
 179 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(176): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0125
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0084
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0213
a0001c0001t0010g0229
a0001c0001t0011g0022
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0223
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0015g0190
a0001c0001t0015g0197
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0018g0189
a0001c0001t0019g0061
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0039g0033
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0056g0198
a0001c0001t0057g0225
a0001c0001t0063g0208
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0004t0004g0046
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0002g0195
a0003c0005t0027g0218
a0003c0005t0058g0214
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0008c0012t0035g0069
a0009c0009t0012g0196
 179 HG00280.hp1
HG00438.hp1
HG00639.hp1
others(176): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18939.hp1
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp1
NA18944.hp2
NA18945.hp1
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19009.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.330+6009T>C
c.330+6009T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36956027
chr21:36956096 C
C
 T
T
 1 a0005c0011t0033g0139
a0005c0011t0033g0139
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.330+5940G>A
c.330+5940G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36956096
chr21:36956446 A
A
 G
G
 63 a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
others(60): Show 
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0079
a0001c0001t0003g0184
a0001c0001t0003g0228
a0001c0001t0003g0244
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0032
a0001c0001t0004g0058
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0056
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0010g0229
a0001c0001t0011g0022
a0001c0001t0013g0240
a0001c0001t0014g0241
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0036g0123
a0001c0001t0039g0033
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0094g0031
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0100g0073
a0001c0001t0102g0063
a0001c0001t0110g0023
a0001c0008t0008g0001
a0001c0010t0011g0020
a0004c0019t0112g0258
a0008c0012t0035g0069
 63 HG00280.hp1
HG00438.hp1
HG00639.hp2
others(60): Show 
HG00280.hp1
HG00438.hp1
HG00639.hp2
HG00673.hp2
HG00738.hp2
HG01081.hp1
HG01099.hp1
HG01123.hp2
HG01169.hp2
HG01192.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01515.hp1
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02080.hp2
HG02083.hp1
HG02129.hp2
HG02135.hp1
HG02300.hp1
HG02523.hp1
HG02602.hp2
HG02683.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp1
HG03492.hp1
HG04115.hp1
HG04204.hp2
HG04228.hp1
NA18939.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18948.hp1
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp2
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19057.hp2
NA19068.hp1
NA19068.hp2
NA19074.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.330+5590T>C
c.330+5590T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36956446
chr21:36956449 C
C
 T
T
 1 a0001c0001t0005g0113
a0001c0001t0005g0113
 1 NA18970.hp2
NA18970.hp2
 intron_variant MODIFIER c.330+5587G>A
c.330+5587G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36956449
chr21:36956454 T
T
 C
C
 1 a0001c0001t0005g0113
a0001c0001t0005g0113
 1 NA18970.hp2
NA18970.hp2
 intron_variant MODIFIER c.330+5582A>G
c.330+5582A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36956454
chr21:36956455 G
G
 A
A
 1 a0001c0001t0005g0113
a0001c0001t0005g0113
 1 NA18970.hp2
NA18970.hp2
 intron_variant MODIFIER c.330+5581C>T
c.330+5581C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36956455
chr21:36956456 T
T
 C
C
 5 a0001c0001t0005g0113
a0001c0001t0006g0256
a0001c0001t0030g0257
others(2): Show 
a0001c0001t0005g0113
a0001c0001t0006g0256
a0001c0001t0030g0257
a0001c0001t0037g0254
a0001c0001t0069g0255
 5 HG02109.hp2
HG02615.hp2
HG02809.hp2
others(2): Show 
HG02109.hp2
HG02615.hp2
HG02809.hp2
HG03130.hp2
NA18970.hp2
 intron_variant MODIFIER c.330+5580A>G
c.330+5580A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36956456
chr21:36956544 C
C
 T
T
 1 a0001c0001t0002g0174
a0001c0001t0002g0174
 1 NA20805.hp2
NA20805.hp2
 intron_variant MODIFIER c.330+5492G>A
c.330+5492G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36956544
chr21:36956586 C
C
 A
A
 177 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(174): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0007g0227
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0229
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0049g0233
a0001c0001t0057g0225
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0042g0209
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0006t0023g0212
a0001c0006t0023g0222
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0041g0148
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0003c0005t0002g0195
a0003c0005t0027g0218
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
a0009c0009t0012g0196
 177 HG00280.hp1
HG00438.hp1
HG00438.hp2
others(174): Show 
HG00280.hp1
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02280.hp2
HG02300.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03927.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.330+5450G>T
c.330+5450G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36956586
chr21:36956590 T
T
 C
C
 5 a0001c0001t0002g0193
a0001c0001t0010g0249
a0001c0001t0028g0192
others(2): Show 
a0001c0001t0002g0193
a0001c0001t0010g0249
a0001c0001t0028g0192
a0001c0001t0044g0161
a0001c0004t0017g0224
 5 HG02486.hp2
HG02572.hp1
HG02647.hp2
others(2): Show 
HG02486.hp2
HG02572.hp1
HG02647.hp2
HG02922.hp1
HG03139.hp1
 intron_variant MODIFIER c.330+5446A>G
c.330+5446A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36956590
chr21:36956598 T
T
 C
C
 1 a0002c0002t0048g0144
a0002c0002t0048g0144
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.330+5438A>G
c.330+5438A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36956598
chr21:36956684 C
C
 T
T
 3 a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0008g0078
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0008g0078
 3 HG01070.hp2
HG01346.hp1
HG03927.hp1
HG01070.hp2
HG01346.hp1
HG03927.hp1
 intron_variant MODIFIER c.330+5352G>A
c.330+5352G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36956684
chr21:36956716 C
C
 T
T
 1 a0001c0001t0001g0071
a0001c0001t0001g0071
 1 HG01361.hp1
HG01361.hp1
 intron_variant MODIFIER c.330+5320G>A
c.330+5320G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36956716
chr21:36956821 C
C
 T
T
 2 a0001c0001t0007g0227
a0001c0006t0023g0212
a0001c0001t0007g0227
a0001c0006t0023g0212
 2 HG02040.hp1
NA19043.hp2
HG02040.hp1
NA19043.hp2
 intron_variant MODIFIER c.330+5215G>A
c.330+5215G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36956821
chr21:36956824 G
G
 A
A
 1 a0001c0001t0104g0114
a0001c0001t0104g0114
 1 HG02040.hp2
HG02040.hp2
 intron_variant MODIFIER c.330+5212C>T
c.330+5212C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36956824
chr21:36956832 C
C
 T
T
 1 a0001c0001t0003g0226
a0001c0001t0003g0226
 1 NA18984.hp1
NA18984.hp1
 intron_variant MODIFIER c.330+5204G>A
c.330+5204G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36956832
chr21:36956858 C
C
 A
A
 69 a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
others(66): Show 
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0011g0022
a0001c0001t0016g0047
a0001c0001t0019g0061
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0029g0051
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0034g0030
a0001c0001t0038g0054
a0001c0001t0039g0033
a0001c0001t0066g0059
a0001c0001t0075g0049
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0081g0016
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0094g0031
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0100g0073
a0001c0001t0102g0063
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0018t0004g0060
a0004c0019t0112g0258
a0008c0012t0035g0069
 69 HG00280.hp1
HG00438.hp1
HG00738.hp2
others(66): Show 
HG00280.hp1
HG00438.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp1
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01515.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02300.hp1
HG02486.hp1
HG02523.hp1
HG02602.hp2
HG02622.hp1
HG02683.hp1
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02922.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03704.hp1
HG03710.hp1
HG04204.hp2
HG04228.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18948.hp1
NA18950.hp1
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19043.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.330+5178G>T
c.330+5178G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36956858
chr21:36957052 C
C
 CA
CA
 7 a0001c0001t0002g0179
a0001c0001t0002g0237
a0001c0001t0013g0223
others(4): Show 
a0001c0001t0002g0179
a0001c0001t0002g0237
a0001c0001t0013g0223
a0001c0001t0063g0208
a0001c0004t0042g0209
a0002c0002t0040g0242
a0002c0002t0064g0243
 7 HG00735.hp1
HG02280.hp1
HG02559.hp2
others(4): Show 
HG00735.hp1
HG02280.hp1
HG02559.hp2
HG03041.hp1
HG03098.hp1
NA18968.hp2
NA19084.hp1
 intron_variant MODIFIER c.330+4983dupT
c.330+4983dupT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36957052
chr21:36957052 CA
CA
 C
C
 6 a0001c0001t0001g0071
a0001c0001t0005g0115
a0001c0001t0007g0162
others(3): Show 
a0001c0001t0001g0071
a0001c0001t0005g0115
a0001c0001t0007g0162
a0001c0001t0008g0055
a0001c0001t0010g0164
a0006c0016t0001g0116
 6 HG00323.hp2
HG01361.hp1
HG02602.hp2
others(3): Show 
HG00323.hp2
HG01361.hp1
HG02602.hp2
HG04115.hp2
NA18989.hp1
NA18993.hp2
 intron_variant MODIFIER c.330+4983delT
c.330+4983delT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36957052
chr21:36957052 CAA
CAA
 C
C
 143 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(140): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0256
a0001c0001t0008g0018
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0007c0014t0070g0131
a0008c0012t0035g0069
 143 HG00280.hp1
HG00438.hp1
HG00438.hp2
others(140): Show 
HG00280.hp1
HG00438.hp1
HG00438.hp2
HG00639.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02257.hp2
HG02300.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03704.hp1
HG03710.hp1
HG03927.hp1
HG04115.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.330+4982_330+4983d
others(4): Show 
c.330+4982_330+4983delTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36957052
chr21:36957100 T
T
 C
C
 68 a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
others(65): Show 
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0004g0138
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0019g0101
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0030g0257
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0102
a0001c0001t0039g0126
a0001c0001t0065g0252
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0074g0087
a0001c0001t0076g0090
a0001c0001t0078g0108
a0001c0001t0080g0093
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0095g0117
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0106g0253
a0001c0001t0109g0119
a0001c0003t0111g0137
a0001c0004t0068g0088
a0001c0017t0108g0082
a0003c0005t0092g0134
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
 68 HG00438.hp2
HG00639.hp2
HG00673.hp1
others(65): Show 
HG00438.hp2
HG00639.hp2
HG00673.hp1
HG00735.hp2
HG00741.hp1
HG01070.hp2
HG01071.hp1
HG01123.hp1
HG01175.hp1
HG01175.hp2
HG01346.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01891.hp2
HG01975.hp1
HG01981.hp1
HG02027.hp2
HG02040.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp2
HG02523.hp2
HG02572.hp2
HG02615.hp2
HG02622.hp2
HG02717.hp2
HG02809.hp2
HG02895.hp1
HG02897.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03540.hp1
HG03927.hp1
HG04115.hp2
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp2
NA18940.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp2
NA18945.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18959.hp1
NA18970.hp2
NA18975.hp2
NA18979.hp2
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19074.hp2
NA19084.hp2
NA19088.hp2
NA19240.hp2
 intron_variant MODIFIER c.330+4936A>G
c.330+4936A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36957100
chr21:36957165 G
G
 A
A
 19 a0001c0001t0015g0141
a0001c0001t0019g0247
a0001c0001t0031g0245
others(16): Show 
a0001c0001t0015g0141
a0001c0001t0019g0247
a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0004t0072g0248
a0002c0002t0002g0143
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
 19 HG00639.hp1
HG02135.hp2
HG02280.hp2
others(16): Show 
HG00639.hp1
HG02135.hp2
HG02280.hp2
HG02559.hp1
HG02723.hp1
HG03041.hp1
HG03139.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA19088.hp1
NA19240.hp1
 intron_variant MODIFIER c.330+4871C>T
c.330+4871C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36957165
chr21:36957493 C
C
 T
T
 3 a0001c0001t0013g0223
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0013g0223
a0001c0001t0026g0250
a0001c0001t0026g0251
 3 HG01257.hp2
HG01258.hp1
HG03098.hp1
HG01257.hp2
HG01258.hp1
HG03098.hp1
 intron_variant MODIFIER c.330+4543G>A
c.330+4543G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36957493
chr21:36957494 C
C
 T
T
 2 a0001c0001t0015g0141
a0002c0002t0015g0142
a0001c0001t0015g0141
a0002c0002t0015g0142
 2 HG02723.hp1
HG03453.hp1
HG02723.hp1
HG03453.hp1
 intron_variant MODIFIER c.330+4542G>A
c.330+4542G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36957494
chr21:36957736 C
C
 T
T
 146 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(143): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
 146 HG00280.hp1
HG00438.hp1
HG00438.hp2
others(143): Show 
HG00280.hp1
HG00438.hp1
HG00438.hp2
HG00639.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02257.hp2
HG02300.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03490.hp1
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03710.hp1
HG03927.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19084.hp2
NA19088.hp2
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.330+4300G>A
c.330+4300G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36957736
chr21:36957799 C
C
 G
G
 147 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(144): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
 147 HG00280.hp1
HG00438.hp1
HG00438.hp2
others(144): Show 
HG00280.hp1
HG00438.hp1
HG00438.hp2
HG00639.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02257.hp2
HG02300.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03490.hp1
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03710.hp1
HG03927.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19084.hp2
NA19088.hp2
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.330+4237G>C
c.330+4237G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36957799
chr21:36957807 C
C
 T
T
 147 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(144): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
 147 HG00280.hp1
HG00438.hp1
HG00438.hp2
others(144): Show 
HG00280.hp1
HG00438.hp1
HG00438.hp2
HG00639.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02257.hp2
HG02300.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03490.hp1
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03710.hp1
HG03927.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19084.hp2
NA19088.hp2
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.330+4229G>A
c.330+4229G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36957807
chr21:36957853 C
C
 T
T
 2 a0001c0001t0006g0132
a0003c0005t0092g0134
a0001c0001t0006g0132
a0003c0005t0092g0134
 2 HG01175.hp2
HG02976.hp1
HG01175.hp2
HG02976.hp1
 intron_variant MODIFIER c.330+4183G>A
c.330+4183G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36957853
chr21:36957877 C
C
 T
T
 1 a0001c0001t0020g0121
a0001c0001t0020g0121
 1 NA19057.hp1
NA19057.hp1
 intron_variant MODIFIER c.330+4159G>A
c.330+4159G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36957877
chr21:36957878 G
G
 A
A
 1 a0001c0001t0084g0075
a0001c0001t0084g0075
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.330+4158C>T
c.330+4158C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36957878
chr21:36957887 C
C
 G
G
 1 a0001c0001t0031g0057
a0001c0001t0031g0057
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.330+4149G>C
c.330+4149G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36957887
chr21:36957929 G
G
 A
A
 1 a0001c0001t0109g0119
a0001c0001t0109g0119
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.330+4107C>T
c.330+4107C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36957929
chr21:36957952 G
G
 A
A
 1 a0001c0001t0090g0005
a0001c0001t0090g0005
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.330+4084C>T
c.330+4084C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36957952
chr21:36958053 C
C
 T
T
 147 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(144): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
 147 HG00280.hp1
HG00438.hp1
HG00438.hp2
others(144): Show 
HG00280.hp1
HG00438.hp1
HG00438.hp2
HG00639.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02257.hp2
HG02300.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03490.hp1
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03710.hp1
HG03927.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19084.hp2
NA19088.hp2
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.330+3983G>A
c.330+3983G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36958053
chr21:36958074 T
T
 A
A
 188 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(185): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0007g0227
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0229
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0019g0247
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0031g0245
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0049g0233
a0001c0001t0057g0225
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0073g0246
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0004t0072g0248
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0015t0052g0239
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
a0003c0005t0092g0134
a0004c0019t0112g0258
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
 188 HG00280.hp1
HG00438.hp1
HG00438.hp2
others(185): Show 
HG00280.hp1
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02257.hp2
HG02280.hp2
HG02300.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03927.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18952.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.330+3962A>T
c.330+3962A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36958074
chr21:36958099 C
C
 T
T
 1 a0001c0001t0031g0057
a0001c0001t0031g0057
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.330+3937G>A
c.330+3937G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36958099
chr21:36958138 G
G
 C
C
 1 a0002c0002t0013g0147
a0002c0002t0013g0147
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.330+3898C>G
c.330+3898C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36958138
chr21:36958157 G
G
 A
A
 1 a0001c0001t0022g0187
a0001c0001t0022g0187
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.330+3879C>T
c.330+3879C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36958157
chr21:36958249 A
A
 AAAAG
AAAAG
 83 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(80): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0011g0022
a0001c0001t0016g0047
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0039g0033
a0001c0001t0065g0252
a0001c0001t0069g0255
a0001c0001t0075g0049
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0008t0008g0001
a0001c0010t0011g0020
a0003c0005t0092g0134
a0008c0012t0035g0069
 83 HG00280.hp1
HG00438.hp1
HG00738.hp1
others(80): Show 
HG00280.hp1
HG00438.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01123.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01515.hp1
HG01516.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG02027.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02135.hp1
HG02300.hp1
HG02486.hp1
HG02523.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02683.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp2
HG02976.hp1
HG03041.hp2
HG03130.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03490.hp1
HG03492.hp1
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04204.hp2
HG04228.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18948.hp1
NA18950.hp1
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19043.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.330+3786_330+3787i
others(6): Show 
c.330+3786_330+3787insCTTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36958249
chr21:36958249 A
A
 AAAAGAAA
others(9): Show 
AAAAGAAAGAAAGAAAG
 1 a0005c0011t0033g0139
a0005c0011t0033g0139
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.330+3786_330+3787i
others(18): Show 
c.330+3786_330+3787insCTTTCTTTCTTTCTTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36958249
chr21:36958253 A
A
 G
G
 146 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(143): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0003c0005t0092g0134
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
 146 HG00280.hp1
HG00438.hp1
HG00438.hp2
others(143): Show 
HG00280.hp1
HG00438.hp1
HG00438.hp2
HG00639.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02257.hp2
HG02300.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03490.hp1
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03710.hp1
HG03927.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19084.hp2
NA19088.hp2
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.330+3783T>C
c.330+3783T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36958253
chr21:36958304 G
G
 A
A
 18 a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
others(15): Show 
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0007g0227
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0229
a0001c0001t0012g0234
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0241
a0001c0001t0049g0233
a0001c0001t0057g0225
a0001c0015t0052g0239
 18 HG00673.hp2
HG01255.hp1
HG01361.hp2
others(15): Show 
HG00673.hp2
HG01255.hp1
HG01361.hp2
HG02040.hp1
HG02080.hp1
HG03710.hp2
HG04204.hp1
HG04228.hp2
NA18939.hp1
NA18950.hp2
NA18952.hp2
NA18967.hp1
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19084.hp1
NA20129.hp2
 intron_variant MODIFIER c.330+3732C>T
c.330+3732C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36958304
chr21:36958320 G
G
 T
T
 146 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(143): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0003c0005t0092g0134
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
 146 HG00280.hp1
HG00438.hp1
HG00438.hp2
others(143): Show 
HG00280.hp1
HG00438.hp1
HG00438.hp2
HG00639.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02257.hp2
HG02300.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03490.hp1
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03710.hp1
HG03927.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19084.hp2
NA19088.hp2
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.330+3716C>A
c.330+3716C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36958320
chr21:36958484 G
G
 C
C
 5 a0001c0001t0018g0189
a0001c0001t0024g0191
a0001c0001t0024g0211
others(2): Show 
a0001c0001t0018g0189
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0004t0017g0219
a0001c0004t0017g0220
 5 HG01952.hp2
HG02896.hp1
HG02897.hp2
others(2): Show 
HG01952.hp2
HG02896.hp1
HG02897.hp2
HG03098.hp2
HG03225.hp2
 intron_variant MODIFIER c.330+3552C>G
c.330+3552C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36958484
chr21:36958579 A
A
 G
G
 1 a0001c0001t0003g0173
a0001c0001t0003g0173
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.330+3457T>C
c.330+3457T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36958579
chr21:36958617 G
G
 A
A
 4 a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0041g0148
others(1): Show 
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0041g0148
a0002c0002t0062g0145
 4 HG00639.hp1
HG02280.hp2
HG03209.hp2
others(1): Show 
HG00639.hp1
HG02280.hp2
HG03209.hp2
HG06807.hp1
 intron_variant MODIFIER c.330+3419C>T
c.330+3419C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36958617
chr21:36958724 GGTTGCAG
others(30): Show 
GGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGC
 G
G
 4 a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0041g0148
others(1): Show 
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0041g0148
a0002c0002t0062g0145
 4 HG00639.hp1
HG02280.hp2
HG03209.hp2
others(1): Show 
HG00639.hp1
HG02280.hp2
HG03209.hp2
HG06807.hp1
 intron_variant MODIFIER c.330+3275_330+3311d
others(39): Show 
c.330+3275_330+3311delGCTGGAGTGCAGTGGTGCGATCTCAGCT
CACTGCAAC
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36958724
chr21:36958768 A
A
 G
G
 146 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(143): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0003c0005t0092g0134
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
 146 HG00280.hp1
HG00438.hp1
HG00438.hp2
others(143): Show 
HG00280.hp1
HG00438.hp1
HG00438.hp2
HG00639.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02257.hp2
HG02300.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03490.hp1
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03710.hp1
HG03927.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19084.hp2
NA19088.hp2
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.330+3268T>C
c.330+3268T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36958768
chr21:36958785 T
T
 A
A
 75 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(72): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0011g0022
a0001c0001t0016g0047
a0001c0001t0019g0061
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0029g0051
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0038g0054
a0001c0001t0039g0033
a0001c0001t0066g0059
a0001c0001t0075g0049
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0094g0031
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0018t0004g0060
a0008c0012t0035g0069
 75 HG00280.hp1
HG00438.hp1
HG00738.hp1
others(72): Show 
HG00280.hp1
HG00438.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01515.hp1
HG01516.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG02027.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02300.hp1
HG02486.hp1
HG02523.hp1
HG02602.hp2
HG02622.hp1
HG02683.hp1
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02922.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03490.hp1
HG03492.hp1
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04204.hp2
HG04228.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18948.hp1
NA18950.hp1
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19043.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.330+3251A>T
c.330+3251A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36958785
chr21:36958789 CA
CA
 C
C
 145 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(142): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0003c0005t0092g0134
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
 145 HG00280.hp1
HG00438.hp1
HG00438.hp2
others(142): Show 
HG00280.hp1
HG00438.hp1
HG00438.hp2
HG00639.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02257.hp2
HG02300.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03490.hp1
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03710.hp1
HG03927.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19084.hp2
NA19088.hp2
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.330+3246delT
c.330+3246delT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36958789
chr21:36958894 G
G
 T
T
 1 a0001c0001t0006g0127
a0001c0001t0006g0127
 1 HG02897.hp1
HG02897.hp1
 intron_variant MODIFIER c.330+3142C>A
c.330+3142C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36958894
chr21:36958988 A
A
 G
G
 4 a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0004t0017g0219
others(1): Show 
a0001c0001t0024g0191
a0001c0001t0024g0211
a0001c0004t0017g0219
a0001c0004t0017g0220
 4 HG02896.hp1
HG02897.hp2
HG03098.hp2
others(1): Show 
HG02896.hp1
HG02897.hp2
HG03098.hp2
HG03225.hp2
 intron_variant MODIFIER c.330+3048T>C
c.330+3048T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36958988
chr21:36959139 A
A
 C
C
 1 a0001c0001t0001g0017
a0001c0001t0001g0017
 1 NA19068.hp1
NA19068.hp1
 intron_variant MODIFIER c.330+2897T>G
c.330+2897T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36959139
chr21:36959181 G
G
 A
A
 1 a0001c0001t0001g0062
a0001c0001t0001g0062
 1 HG01975.hp2
HG01975.hp2
 intron_variant MODIFIER c.330+2855C>T
c.330+2855C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36959181
chr21:36959256 G
G
 A
A
 7 a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0025g0149
others(4): Show 
a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0041g0148
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0062g0145
 7 HG00639.hp1
HG02280.hp2
HG03139.hp2
others(4): Show 
HG00639.hp1
HG02280.hp2
HG03139.hp2
HG03209.hp2
HG03579.hp2
HG06807.hp1
NA18522.hp1
 intron_variant MODIFIER c.330+2780C>T
c.330+2780C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36959256
chr21:36959272 G
G
 A
A
 146 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(143): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0003c0005t0092g0134
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
 146 HG00280.hp1
HG00438.hp1
HG00438.hp2
others(143): Show 
HG00280.hp1
HG00438.hp1
HG00438.hp2
HG00639.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02257.hp2
HG02300.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03490.hp1
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03710.hp1
HG03927.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19084.hp2
NA19088.hp2
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.330+2764C>T
c.330+2764C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36959272
chr21:36959329 G
G
 T
T
 146 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(143): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0003c0005t0092g0134
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
 146 HG00280.hp1
HG00438.hp1
HG00438.hp2
others(143): Show 
HG00280.hp1
HG00438.hp1
HG00438.hp2
HG00639.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02257.hp2
HG02300.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03490.hp1
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03710.hp1
HG03927.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19084.hp2
NA19088.hp2
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.330+2707C>A
c.330+2707C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36959329
chr21:36959357 G
G
 A
A
 1 a0001c0001t0020g0002
a0001c0001t0020g0002
 1 NA19004.hp1
NA19004.hp1
 intron_variant MODIFIER c.330+2679C>T
c.330+2679C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36959357
chr21:36959434 G
G
 A
A
 70 a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
others(67): Show 
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0004g0138
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0019g0101
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0136
a0001c0001t0030g0257
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0102
a0001c0001t0039g0126
a0001c0001t0065g0252
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0074g0087
a0001c0001t0076g0090
a0001c0001t0078g0108
a0001c0001t0080g0093
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0093g0133
a0001c0001t0095g0117
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0106g0253
a0001c0001t0109g0119
a0001c0003t0111g0137
a0001c0004t0068g0088
a0001c0017t0108g0082
a0003c0005t0092g0134
a0006c0016t0001g0116
a0007c0014t0070g0131
 70 HG00438.hp2
HG00639.hp2
HG00673.hp1
others(67): Show 
HG00438.hp2
HG00639.hp2
HG00673.hp1
HG00735.hp2
HG00741.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp2
HG01123.hp1
HG01175.hp1
HG01175.hp2
HG01346.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01891.hp2
HG01975.hp1
HG01981.hp1
HG02027.hp2
HG02040.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp2
HG02523.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02897.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03540.hp1
HG03927.hp1
HG04115.hp2
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp2
NA18940.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp2
NA18945.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18959.hp1
NA18970.hp2
NA18975.hp2
NA18979.hp2
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19074.hp2
NA19084.hp2
NA19088.hp2
NA19240.hp2
 intron_variant MODIFIER c.330+2602C>T
c.330+2602C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36959434
chr21:36959492 C
C
 T
T
 70 a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
others(67): Show 
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0004g0138
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0019g0101
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0136
a0001c0001t0030g0257
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0102
a0001c0001t0039g0126
a0001c0001t0065g0252
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0074g0087
a0001c0001t0076g0090
a0001c0001t0078g0108
a0001c0001t0080g0093
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0093g0133
a0001c0001t0095g0117
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0106g0253
a0001c0001t0109g0119
a0001c0003t0111g0137
a0001c0004t0068g0088
a0001c0017t0108g0082
a0003c0005t0092g0134
a0006c0016t0001g0116
a0007c0014t0070g0131
 70 HG00438.hp2
HG00639.hp2
HG00673.hp1
others(67): Show 
HG00438.hp2
HG00639.hp2
HG00673.hp1
HG00735.hp2
HG00741.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp2
HG01123.hp1
HG01175.hp1
HG01175.hp2
HG01346.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01891.hp2
HG01975.hp1
HG01981.hp1
HG02027.hp2
HG02040.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp2
HG02523.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02897.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03540.hp1
HG03927.hp1
HG04115.hp2
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp2
NA18940.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp2
NA18945.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18959.hp1
NA18970.hp2
NA18975.hp2
NA18979.hp2
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19074.hp2
NA19084.hp2
NA19088.hp2
NA19240.hp2
 intron_variant MODIFIER c.330+2544G>A
c.330+2544G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36959492
chr21:36959766 G
G
 A
A
 1 a0001c0003t0007g0210
a0001c0003t0007g0210
 1 NA20805.hp1
NA20805.hp1
 intron_variant MODIFIER c.330+2270C>T
c.330+2270C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36959766
chr21:36959844 G
G
 A
A
 8 a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0172
others(5): Show 
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0172
a0001c0001t0002g0183
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0059g0180
 8 HG01070.hp1
HG01071.hp2
HG01168.hp2
others(5): Show 
HG01070.hp1
HG01071.hp2
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG02300.hp2
HG03490.hp2
HG03669.hp2
 intron_variant MODIFIER c.330+2192C>T
c.330+2192C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36959844
chr21:36959992 C
C
 A
A
 18 a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
others(15): Show 
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0007g0227
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0229
a0001c0001t0012g0234
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0241
a0001c0001t0049g0233
a0001c0001t0057g0225
a0001c0015t0052g0239
 18 HG00673.hp2
HG01255.hp1
HG01361.hp2
others(15): Show 
HG00673.hp2
HG01255.hp1
HG01361.hp2
HG02040.hp1
HG02080.hp1
HG03710.hp2
HG04204.hp1
HG04228.hp2
NA18939.hp1
NA18950.hp2
NA18952.hp2
NA18967.hp1
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19084.hp1
NA20129.hp2
 intron_variant MODIFIER c.330+2044G>T
c.330+2044G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36959992
chr21:36960018 G
G
 C
C
 3 a0001c0001t0013g0223
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0013g0223
a0001c0001t0026g0250
a0001c0001t0026g0251
 3 HG01257.hp2
HG01258.hp1
HG03098.hp1
HG01257.hp2
HG01258.hp1
HG03098.hp1
 intron_variant MODIFIER c.330+2018C>G
c.330+2018C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36960018
chr21:36960131 A
A
 AC
AC
 20 a0001c0001t0002g0237
a0001c0001t0009g0201
a0001c0001t0009g0202
others(17): Show 
a0001c0001t0002g0237
a0001c0001t0009g0201
a0001c0001t0009g0202
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0015g0197
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0053g0186
a0001c0001t0056g0198
a0001c0001t0063g0208
a0001c0003t0003g0199
a0001c0003t0003g0204
a0001c0003t0007g0210
a0001c0003t0012g0205
a0001c0003t0050g0206
a0001c0003t0060g0203
a0001c0004t0042g0209
a0001c0007t0007g0200
a0001c0007t0012g0207
 20 HG00735.hp1
HG01106.hp1
HG01109.hp2
others(17): Show 
HG00735.hp1
HG01106.hp1
HG01109.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01361.hp2
HG02257.hp1
HG02280.hp1
HG02886.hp1
HG03209.hp1
HG03669.hp1
HG03927.hp2
NA18947.hp2
NA18971.hp2
NA19084.hp1
NA20805.hp1
 intron_variant MODIFIER c.330+1904dupG
c.330+1904dupG
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36960131
chr21:36960131 A
A
 ACC
ACC
 14 a0001c0001t0002g0158
a0001c0001t0002g0232
a0001c0001t0003g0226
others(11): Show 
a0001c0001t0002g0158
a0001c0001t0002g0232
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0007g0194
a0001c0001t0007g0227
a0001c0001t0010g0229
a0001c0001t0012g0234
a0001c0001t0013g0231
a0001c0001t0049g0233
a0003c0005t0002g0195
a0009c0009t0012g0196
 14 HG02040.hp1
HG02080.hp1
HG02647.hp1
others(11): Show 
HG02040.hp1
HG02080.hp1
HG02647.hp1
HG03490.hp2
HG03831.hp2
HG04204.hp1
HG04228.hp2
NA18950.hp2
NA18952.hp2
NA18967.hp1
NA18977.hp2
NA18984.hp1
NA19009.hp2
NA20129.hp1
 intron_variant MODIFIER c.330+1903_330+1904d
others(4): Show 
c.330+1903_330+1904dupGG
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36960131
chr21:36960131 AC
AC
 A
A
 24 a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
others(21): Show 
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0007g0162
a0001c0001t0009g0178
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0015g0190
a0001c0001t0018g0176
a0001c0001t0024g0191
a0001c0001t0059g0180
a0001c0003t0007g0221
a0001c0004t0017g0219
a0001c0004t0017g0220
a0001c0013t0022g0177
a0002c0002t0013g0147
a0002c0002t0025g0146
a0002c0002t0043g0152
a0002c0002t0048g0144
a0002c0002t0062g0145
a0003c0005t0092g0134
 24 HG00280.hp2
HG00323.hp2
HG01070.hp1
others(21): Show 
HG00280.hp2
HG00323.hp2
HG01070.hp1
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG02280.hp2
HG02300.hp2
HG02683.hp2
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG03098.hp2
HG03139.hp2
HG03209.hp2
HG03471.hp1
HG03516.hp2
NA18951.hp2
NA18968.hp2
NA19068.hp2
NA20805.hp2
 intron_variant MODIFIER c.330+1904delG
c.330+1904delG
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36960131
chr21:36960131 ACC
ACC
 A
A
 161 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(158): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0193
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0022g0187
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0224
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0064g0243
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
 161 HG00280.hp1
HG00438.hp1
HG00438.hp2
others(158): Show 
HG00280.hp1
HG00438.hp1
HG00438.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02257.hp2
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03490.hp1
HG03492.hp1
HG03540.hp1
HG03579.hp2
HG03704.hp1
HG03710.hp1
HG03927.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19084.hp2
NA19088.hp2
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.330+1903_330+1904d
others(4): Show 
c.330+1903_330+1904delGG
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36960131
chr21:36960137 C
C
 A
A
 1 a0001c0001t0013g0240
a0001c0001t0013g0240
 1 NA18939.hp1
NA18939.hp1
 intron_variant MODIFIER c.330+1899G>T
c.330+1899G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36960137
chr21:36960140 C
C
 A
A
 1 a0002c0002t0045g0151
a0002c0002t0045g0151
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.330+1896G>T
c.330+1896G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36960140
chr21:36960140 C
C
 G
G
 152 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(149): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0002g0193
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0010g0249
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0028g0192
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0044g0161
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0017g0224
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0002c0002t0048g0144
a0003c0005t0092g0134
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
 152 HG00280.hp1
HG00438.hp1
HG00438.hp2
others(149): Show 
HG00280.hp1
HG00438.hp1
HG00438.hp2
HG00639.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02257.hp2
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03490.hp1
HG03492.hp1
HG03516.hp2
HG03540.hp1
HG03704.hp1
HG03710.hp1
HG03927.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19084.hp2
NA19088.hp2
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.330+1896G>C
c.330+1896G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36960140
chr21:36960143 C
C
 G
G
 2 a0001c0001t0024g0191
a0001c0001t0061g0163
a0001c0001t0024g0191
a0001c0001t0061g0163
 2 HG03098.hp2
HG03704.hp2
HG03098.hp2
HG03704.hp2
 intron_variant MODIFIER c.330+1893G>C
c.330+1893G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36960143
chr21:36960146 G
G
 C
C
 1 a0001c0001t0014g0241
a0001c0001t0014g0241
 1 HG00673.hp2
HG00673.hp2
 intron_variant MODIFIER c.330+1890C>G
c.330+1890C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36960146
chr21:36960371 C
C
 T
T
 28 a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
others(25): Show 
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0009g0178
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0018g0176
a0001c0001t0028g0167
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0013t0022g0177
 28 HG00280.hp2
HG00323.hp2
HG01070.hp1
others(25): Show 
HG00280.hp2
HG00323.hp2
HG01070.hp1
HG01071.hp2
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG01496.hp1
HG01978.hp1
HG02300.hp2
HG02683.hp2
HG02886.hp2
HG02896.hp2
HG03130.hp1
HG03225.hp1
HG03490.hp2
HG03492.hp2
HG03669.hp2
HG03704.hp2
HG03831.hp1
HG03927.hp2
NA18944.hp1
NA18951.hp2
NA18968.hp2
NA18993.hp2
NA19004.hp2
NA19068.hp2
NA20805.hp2
 intron_variant MODIFIER c.330+1665G>A
c.330+1665G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36960371
chr21:36960465 G
G
 C
C
 6 a0001c0001t0006g0256
a0001c0001t0030g0257
a0001c0001t0037g0254
others(3): Show 
a0001c0001t0006g0256
a0001c0001t0030g0257
a0001c0001t0037g0254
a0001c0001t0065g0252
a0001c0001t0069g0255
a0001c0001t0106g0253
 6 HG02109.hp2
HG02615.hp2
HG02622.hp2
others(3): Show 
HG02109.hp2
HG02615.hp2
HG02622.hp2
HG02809.hp2
HG03041.hp2
HG03130.hp2
 intron_variant MODIFIER c.330+1571C>G
c.330+1571C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36960465
chr21:36960468 C
C
 A
A
 28 a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
others(25): Show 
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0009g0178
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0018g0176
a0001c0001t0028g0167
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0013t0022g0177
 28 HG00280.hp2
HG00323.hp2
HG01070.hp1
others(25): Show 
HG00280.hp2
HG00323.hp2
HG01070.hp1
HG01071.hp2
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG01496.hp1
HG01978.hp1
HG02300.hp2
HG02683.hp2
HG02886.hp2
HG02896.hp2
HG03130.hp1
HG03225.hp1
HG03490.hp2
HG03492.hp2
HG03669.hp2
HG03704.hp2
HG03831.hp1
HG03927.hp2
NA18944.hp1
NA18951.hp2
NA18968.hp2
NA18993.hp2
NA19004.hp2
NA19068.hp2
NA20805.hp2
 intron_variant MODIFIER c.330+1568G>T
c.330+1568G>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36960468
chr21:36961083 G
G
 A
A
 1 a0001c0001t0102g0063
a0001c0001t0102g0063
 1 HG02135.hp1
HG02135.hp1
 intron_variant MODIFIER c.330+953C>T
c.330+953C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36961083
chr21:36961116 G
G
 C
C
 2 a0002c0002t0018g0153
a0002c0002t0043g0152
a0002c0002t0018g0153
a0002c0002t0043g0152
 2 HG03471.hp1
NA18522.hp2
HG03471.hp1
NA18522.hp2
 intron_variant MODIFIER c.330+920C>G
c.330+920C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36961116
chr21:36961225 T
T
 C
C
 1 a0001c0001t0021g0130
a0001c0001t0021g0130
 1 HG02027.hp2
HG02027.hp2
 intron_variant MODIFIER c.330+811A>G
c.330+811A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36961225
chr21:36961308 C
C
 T
T
 1 a0001c0001t0057g0225
a0001c0001t0057g0225
 1 NA18979.hp1
NA18979.hp1
 intron_variant MODIFIER c.330+728G>A
c.330+728G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36961308
chr21:36961568 G
G
 A
A
 1 a0005c0011t0033g0139
a0005c0011t0033g0139
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.330+468C>T
c.330+468C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36961568
chr21:36961649 C
C
 T
T
 1 a0001c0001t0081g0016
a0001c0001t0081g0016
 1 HG03704.hp1
HG03704.hp1
 intron_variant MODIFIER c.330+387G>A
c.330+387G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36961649
chr21:36961680 G
G
 A
A
 1 a0001c0001t0001g0120
a0001c0001t0001g0120
 1 HG02083.hp2
HG02083.hp2
 intron_variant MODIFIER c.330+356C>T
c.330+356C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36961680
chr21:36961719 C
C
 T
T
 2 a0001c0001t0006g0132
a0003c0005t0092g0134
a0001c0001t0006g0132
a0003c0005t0092g0134
 2 HG01175.hp2
HG02976.hp1
HG01175.hp2
HG02976.hp1
 intron_variant MODIFIER c.330+317G>A
c.330+317G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36961719
chr21:36961728 T
T
 C
C
 1 a0001c0001t0020g0002
a0001c0001t0020g0002
 1 NA19004.hp1
NA19004.hp1
 intron_variant MODIFIER c.330+308A>G
c.330+308A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36961728
chr21:36961948 T
T
 C
C
 1 a0001c0001t0022g0187
a0001c0001t0022g0187
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.330+88A>G
c.330+88A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36961948
chr21:36961956 G
G
 GA
GA
 44 a0001c0001t0001g0066
a0001c0001t0001g0071
a0001c0001t0002g0232
others(41): Show 
a0001c0001t0001g0066
a0001c0001t0001g0071
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0184
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0007g0227
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0229
a0001c0001t0012g0234
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0034g0070
a0001c0001t0049g0233
a0001c0001t0057g0225
a0001c0004t0067g0067
a0001c0006t0023g0222
a0001c0015t0052g0239
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0062g0145
a0002c0002t0064g0243
 44 HG00639.hp1
HG00673.hp2
HG01255.hp1
others(41): Show 
HG00639.hp1
HG00673.hp2
HG01255.hp1
HG01361.hp1
HG01361.hp2
HG01891.hp1
HG02040.hp1
HG02080.hp1
HG02135.hp2
HG02145.hp1
HG02280.hp2
HG02559.hp2
HG02602.hp1
HG02723.hp1
HG03041.hp1
HG03139.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03579.hp2
HG03710.hp2
HG04115.hp1
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp2
NA18961.hp1
NA18967.hp1
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA18993.hp1
NA19009.hp2
NA19068.hp2
NA19084.hp1
NA19088.hp1
NA20129.hp2
 intron_variant MODIFIER c.330+79dupT
c.330+79dupT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36961956
chr21:36961956 G
G
 GAAAAAAA
GAAAAAAA
 62 a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
others(59): Show 
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0128
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0019g0101
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0136
a0001c0001t0030g0257
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0102
a0001c0001t0065g0252
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0074g0087
a0001c0001t0076g0090
a0001c0001t0078g0108
a0001c0001t0080g0093
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0093g0133
a0001c0001t0095g0117
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0106g0253
a0001c0001t0109g0119
a0001c0003t0111g0137
a0001c0004t0068g0088
a0001c0017t0108g0082
a0003c0005t0092g0134
a0005c0011t0033g0139
a0006c0016t0001g0116
 62 HG00438.hp2
HG00639.hp2
HG00673.hp1
others(59): Show 
HG00438.hp2
HG00639.hp2
HG00673.hp1
HG00735.hp2
HG01070.hp2
HG01071.hp1
HG01099.hp2
HG01175.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01891.hp2
HG01975.hp1
HG01981.hp1
HG02027.hp2
HG02040.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp2
HG02523.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02897.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03540.hp1
HG03927.hp1
HG04115.hp2
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp2
NA18940.hp2
NA18942.hp2
NA18944.hp2
NA18945.hp2
NA18947.hp1
NA18948.hp2
NA18970.hp2
NA18975.hp2
NA18979.hp2
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA19030.hp1
NA19074.hp2
NA19084.hp2
NA19088.hp2
NA19240.hp2
 intron_variant MODIFIER c.330+73_330+79dupTT
others(5): Show 
c.330+73_330+79dupTTTTTTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36961956
chr21:36961956 G
G
 GAAAAAAA
others(1): Show 
GAAAAAAAA
 8 a0001c0001t0001g0122
a0001c0001t0004g0138
a0001c0001t0006g0125
others(5): Show 
a0001c0001t0001g0122
a0001c0001t0004g0138
a0001c0001t0006g0125
a0001c0001t0020g0121
a0001c0001t0036g0123
a0001c0001t0039g0126
a0001c0001t0099g0124
a0007c0014t0070g0131
 8 HG00741.hp1
HG01123.hp1
HG01175.hp1
others(5): Show 
HG00741.hp1
HG01123.hp1
HG01175.hp1
HG01346.hp1
NA18941.hp2
NA18952.hp1
NA19030.hp2
NA19057.hp1
 intron_variant MODIFIER c.330+72_330+79dupTT
others(6): Show 
c.330+72_330+79dupTTTTTTTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36961956
chr21:36961992 G
G
 C
C
 2 a0001c0001t0006g0132
a0003c0005t0092g0134
a0001c0001t0006g0132
a0003c0005t0092g0134
 2 HG01175.hp2
HG02976.hp1
HG01175.hp2
HG02976.hp1
 intron_variant MODIFIER c.330+44C>G
c.330+44C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 2/10 chr21 36961992
chr21:36962319 C
C
 T
T
 1 a0001c0001t0021g0076
a0001c0001t0021g0076
 1 HG01433.hp2
HG01433.hp2
 intron_variant MODIFIER c.196-149G>A
c.196-149G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 1/10 chr21 36962319
chr21:36962369 C
C
 T
T
 2 a0001c0001t0006g0132
a0003c0005t0092g0134
a0001c0001t0006g0132
a0003c0005t0092g0134
 2 HG01175.hp2
HG02976.hp1
HG01175.hp2
HG02976.hp1
 intron_variant MODIFIER c.196-199G>A
c.196-199G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 1/10 chr21 36962369
chr21:36962462 G
G
 C
C
 18 a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
others(15): Show 
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0007g0227
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0229
a0001c0001t0012g0234
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0241
a0001c0001t0049g0233
a0001c0001t0057g0225
a0001c0015t0052g0239
 18 HG00673.hp2
HG01255.hp1
HG01361.hp2
others(15): Show 
HG00673.hp2
HG01255.hp1
HG01361.hp2
HG02040.hp1
HG02080.hp1
HG03710.hp2
HG04204.hp1
HG04228.hp2
NA18939.hp1
NA18950.hp2
NA18952.hp2
NA18967.hp1
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19084.hp1
NA20129.hp2
 intron_variant MODIFIER c.196-292C>G
c.196-292C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 1/10 chr21 36962462
chr21:36962551 G
G
 A
A
 1 a0001c0001t0055g0185
a0001c0001t0055g0185
 1 HG03492.hp2
HG03492.hp2
 intron_variant MODIFIER c.196-381C>T
c.196-381C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 1/10 chr21 36962551
chr21:36962563 A
A
 G
G
 146 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(143): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0003c0005t0092g0134
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
 146 HG00280.hp1
HG00438.hp1
HG00438.hp2
others(143): Show 
HG00280.hp1
HG00438.hp1
HG00438.hp2
HG00639.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02257.hp2
HG02300.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03490.hp1
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03710.hp1
HG03927.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19084.hp2
NA19088.hp2
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.196-393T>C
c.196-393T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 1/10 chr21 36962563
chr21:36962793 C
C
 CA
CA
 11 a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0013g0223
others(8): Show 
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0013g0223
a0001c0001t0053g0186
a0001c0001t0083g0013
a0001c0001t0090g0005
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0027g0157
 11 HG01081.hp1
HG01081.hp2
HG01243.hp1
others(8): Show 
HG01081.hp1
HG01081.hp2
HG01243.hp1
HG02135.hp2
HG02602.hp1
HG03098.hp1
HG03927.hp2
HG04204.hp2
NA18951.hp1
NA18961.hp1
NA19088.hp1
 intron_variant MODIFIER c.196-624dupT
c.196-624dupT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 1/10 chr21 36962793
chr21:36962793 C
C
 CAAAA
CAAAA
 57 a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
others(54): Show 
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0011g0022
a0001c0001t0016g0047
a0001c0001t0019g0061
a0001c0001t0020g0034
a0001c0001t0029g0051
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0034g0030
a0001c0001t0038g0054
a0001c0001t0039g0033
a0001c0001t0066g0059
a0001c0001t0075g0049
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0081g0016
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0091g0042
a0001c0001t0094g0031
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0100g0073
a0001c0001t0102g0063
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0018t0004g0060
 57 HG00280.hp1
HG00738.hp2
HG00741.hp2
others(54): Show 
HG00280.hp1
HG00738.hp2
HG00741.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp2
HG01169.hp2
HG01192.hp2
HG01257.hp1
HG01346.hp2
HG01433.hp1
HG01515.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG02027.hp1
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02300.hp1
HG02486.hp1
HG02602.hp2
HG02622.hp1
HG02683.hp1
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02922.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03490.hp1
HG03492.hp1
HG03704.hp1
HG03710.hp1
HG04228.hp1
NA18941.hp1
NA18942.hp1
NA18948.hp1
NA18950.hp1
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18993.hp1
NA19009.hp1
NA19043.hp1
NA19057.hp2
NA19068.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.196-627_196-624dup
others(4): Show 
c.196-627_196-624dupTTTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 1/10 chr21 36962793
chr21:36962793 C
C
 CAAAAA
CAAAAA
 7 a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0005g0003
others(4): Show 
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0020g0002
a0001c0001t0034g0070
a0008c0012t0035g0069
 7 HG00438.hp1
HG01361.hp1
HG02080.hp2
others(4): Show 
HG00438.hp1
HG01361.hp1
HG02080.hp2
HG04115.hp1
NA18940.hp1
NA18945.hp1
NA19004.hp1
 intron_variant MODIFIER c.196-628_196-624dup
others(5): Show 
c.196-628_196-624dupTTTTT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 1/10 chr21 36962793
chr21:36962793 CA
CA
 C
C
 77 a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
others(74): Show 
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0132
a0001c0001t0007g0162
a0001c0001t0007g0227
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0229
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0012g0234
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0241
a0001c0001t0015g0190
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0018g0189
a0001c0001t0019g0101
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0038g0102
a0001c0001t0039g0126
a0001c0001t0047g0188
a0001c0001t0049g0233
a0001c0001t0057g0225
a0001c0001t0071g0089
a0001c0001t0074g0087
a0001c0001t0076g0090
a0001c0001t0078g0108
a0001c0001t0080g0093
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0093g0133
a0001c0001t0095g0117
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0109g0119
a0001c0004t0068g0088
a0001c0015t0052g0239
a0001c0017t0108g0082
a0002c0002t0048g0144
a0005c0011t0033g0139
a0006c0016t0001g0116
 77 HG00323.hp2
HG00438.hp2
HG00639.hp2
others(74): Show 
HG00323.hp2
HG00438.hp2
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00735.hp2
HG01071.hp1
HG01099.hp2
HG01123.hp1
HG01255.hp1
HG01346.hp1
HG01361.hp2
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01891.hp2
HG01952.hp2
HG01975.hp1
HG01981.hp1
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02083.hp2
HG02145.hp2
HG02257.hp2
HG02523.hp2
HG02572.hp2
HG02895.hp1
HG02895.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03195.hp1
HG03195.hp2
HG03516.hp2
HG03540.hp1
HG03710.hp2
HG03927.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp2
NA18945.hp2
NA18947.hp1
NA18948.hp2
NA18950.hp2
NA18952.hp1
NA18959.hp1
NA18967.hp1
NA18970.hp2
NA18975.hp2
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18989.hp1
NA18989.hp2
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19074.hp2
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.196-624delT
c.196-624delT
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 1/10 chr21 36962793
chr21:36962816 G
G
 A
A
 1 a0001c0001t0090g0005
a0001c0001t0090g0005
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.196-646C>T
c.196-646C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 1/10 chr21 36962816
chr21:36962818 T
T
 A
A
 1 a0001c0001t0090g0005
a0001c0001t0090g0005
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.196-648A>T
c.196-648A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 1/10 chr21 36962818
chr21:36962821 G
G
 T
T
 1 a0001c0001t0090g0005
a0001c0001t0090g0005
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.196-651C>A
c.196-651C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 1/10 chr21 36962821
chr21:36962855 T
T
 G
G
 1 a0001c0001t0022g0187
a0001c0001t0022g0187
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.196-685A>C
c.196-685A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 1/10 chr21 36962855
chr21:36962975 G
G
 A
A
 1 a0001c0004t0017g0224
a0001c0004t0017g0224
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.196-805C>T
c.196-805C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 1/10 chr21 36962975
chr21:36963115 T
T
 A
A
 37 a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
others(34): Show 
a0001c0001t0002g0232
a0001c0001t0002g0237
a0001c0001t0002g0238
a0001c0001t0003g0226
a0001c0001t0003g0228
a0001c0001t0003g0230
a0001c0001t0003g0244
a0001c0001t0007g0227
a0001c0001t0009g0235
a0001c0001t0009g0236
a0001c0001t0010g0229
a0001c0001t0012g0234
a0001c0001t0013g0231
a0001c0001t0013g0240
a0001c0001t0014g0241
a0001c0001t0015g0141
a0001c0001t0049g0233
a0001c0001t0057g0225
a0001c0015t0052g0239
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0040g0242
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
a0002c0002t0064g0243
 37 HG00639.hp1
HG00673.hp2
HG01255.hp1
others(34): Show 
HG00639.hp1
HG00673.hp2
HG01255.hp1
HG01361.hp2
HG02040.hp1
HG02080.hp1
HG02135.hp2
HG02280.hp2
HG02559.hp2
HG02602.hp1
HG02723.hp1
HG03041.hp1
HG03139.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03516.hp2
HG03579.hp2
HG03710.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp2
NA18961.hp1
NA18967.hp1
NA18977.hp2
NA18979.hp1
NA18984.hp1
NA19009.hp2
NA19084.hp1
NA19088.hp1
NA20129.hp2
 intron_variant MODIFIER c.196-945A>T
c.196-945A>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 1/10 chr21 36963115
chr21:36963287 G
G
 A
A
 4 a0001c0001t0019g0247
a0001c0001t0031g0245
a0001c0001t0073g0246
others(1): Show 
a0001c0001t0019g0247
a0001c0001t0031g0245
a0001c0001t0073g0246
a0001c0004t0072g0248
 4 HG02559.hp1
HG03471.hp2
HG03516.hp1
others(1): Show 
HG02559.hp1
HG03471.hp2
HG03516.hp1
NA19240.hp1
 intron_variant MODIFIER c.196-1117C>T
c.196-1117C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 1/10 chr21 36963287
chr21:36963310 A
A
 G
G
 146 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(143): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0003c0005t0092g0134
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
 146 HG00280.hp1
HG00438.hp1
HG00438.hp2
others(143): Show 
HG00280.hp1
HG00438.hp1
HG00438.hp2
HG00639.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02257.hp2
HG02300.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03490.hp1
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03710.hp1
HG03927.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19084.hp2
NA19088.hp2
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.196-1140T>C
c.196-1140T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 1/10 chr21 36963310
chr21:36963353 A
A
 G
G
 1 a0001c0001t0022g0187
a0001c0001t0022g0187
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.196-1183T>C
c.196-1183T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 1/10 chr21 36963353
chr21:36963424 C
C
 T
T
 70 a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
others(67): Show 
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0004g0138
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0019g0101
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0136
a0001c0001t0030g0257
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0102
a0001c0001t0039g0126
a0001c0001t0065g0252
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0074g0087
a0001c0001t0076g0090
a0001c0001t0078g0108
a0001c0001t0080g0093
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0093g0133
a0001c0001t0095g0117
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0106g0253
a0001c0001t0109g0119
a0001c0003t0111g0137
a0001c0004t0068g0088
a0001c0017t0108g0082
a0003c0005t0092g0134
a0006c0016t0001g0116
a0007c0014t0070g0131
 70 HG00438.hp2
HG00639.hp2
HG00673.hp1
others(67): Show 
HG00438.hp2
HG00639.hp2
HG00673.hp1
HG00735.hp2
HG00741.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp2
HG01123.hp1
HG01175.hp1
HG01175.hp2
HG01346.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01891.hp2
HG01975.hp1
HG01981.hp1
HG02027.hp2
HG02040.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp2
HG02523.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02897.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03540.hp1
HG03927.hp1
HG04115.hp2
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp2
NA18940.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp2
NA18945.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18959.hp1
NA18970.hp2
NA18975.hp2
NA18979.hp2
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19074.hp2
NA19084.hp2
NA19088.hp2
NA19240.hp2
 intron_variant MODIFIER c.196-1254G>A
c.196-1254G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 1/10 chr21 36963424
chr21:36963458 G
G
 A
A
 6 a0001c0001t0006g0256
a0001c0001t0030g0257
a0001c0001t0037g0254
others(3): Show 
a0001c0001t0006g0256
a0001c0001t0030g0257
a0001c0001t0037g0254
a0001c0001t0065g0252
a0001c0001t0069g0255
a0001c0001t0106g0253
 6 HG02109.hp2
HG02615.hp2
HG02622.hp2
others(3): Show 
HG02109.hp2
HG02615.hp2
HG02622.hp2
HG02809.hp2
HG03041.hp2
HG03130.hp2
 intron_variant MODIFIER c.196-1288C>T
c.196-1288C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 1/10 chr21 36963458
chr21:36963655 G
G
 A
A
 57 a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
others(54): Show 
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0019g0101
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0038g0102
a0001c0001t0039g0126
a0001c0001t0071g0089
a0001c0001t0074g0087
a0001c0001t0076g0090
a0001c0001t0078g0108
a0001c0001t0080g0093
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0095g0117
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0109g0119
a0001c0004t0068g0088
a0001c0017t0108g0082
a0006c0016t0001g0116
a0007c0014t0070g0131
 57 HG00438.hp2
HG00639.hp2
HG00673.hp1
others(54): Show 
HG00438.hp2
HG00639.hp2
HG00673.hp1
HG00735.hp2
HG00741.hp1
HG01070.hp2
HG01071.hp1
HG01123.hp1
HG01346.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01891.hp2
HG01975.hp1
HG01981.hp1
HG02027.hp2
HG02040.hp2
HG02083.hp2
HG02145.hp2
HG02257.hp2
HG02523.hp2
HG02572.hp2
HG02895.hp1
HG02897.hp1
HG02965.hp2
HG03195.hp1
HG03195.hp2
HG03540.hp1
HG03927.hp1
HG04115.hp2
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp2
NA18940.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp2
NA18945.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18959.hp1
NA18970.hp2
NA18975.hp2
NA18979.hp2
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19074.hp2
NA19084.hp2
NA19088.hp2
NA19240.hp2
 intron_variant MODIFIER c.196-1485C>T
c.196-1485C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 1/10 chr21 36963655
chr21:36963820 C
C
 T
T
 146 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(143): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0003c0005t0092g0134
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
 146 HG00280.hp1
HG00438.hp1
HG00438.hp2
others(143): Show 
HG00280.hp1
HG00438.hp1
HG00438.hp2
HG00639.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02257.hp2
HG02300.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03490.hp1
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03710.hp1
HG03927.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19084.hp2
NA19088.hp2
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.196-1650G>A
c.196-1650G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 1/10 chr21 36963820
chr21:36963953 G
G
 A
A
 146 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(143): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0003c0005t0092g0134
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
 146 HG00280.hp1
HG00438.hp1
HG00438.hp2
others(143): Show 
HG00280.hp1
HG00438.hp1
HG00438.hp2
HG00639.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02257.hp2
HG02300.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03490.hp1
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03710.hp1
HG03927.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19084.hp2
NA19088.hp2
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.196-1783C>T
c.196-1783C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 1/10 chr21 36963953
chr21:36964368 C
C
 G
G
 28 a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
others(25): Show 
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0002g0165
a0001c0001t0002g0171
a0001c0001t0002g0172
a0001c0001t0002g0174
a0001c0001t0002g0179
a0001c0001t0002g0183
a0001c0001t0003g0166
a0001c0001t0003g0173
a0001c0001t0003g0175
a0001c0001t0003g0184
a0001c0001t0007g0162
a0001c0001t0007g0170
a0001c0001t0009g0178
a0001c0001t0010g0164
a0001c0001t0010g0169
a0001c0001t0014g0159
a0001c0001t0014g0181
a0001c0001t0014g0182
a0001c0001t0018g0176
a0001c0001t0028g0167
a0001c0001t0051g0168
a0001c0001t0053g0186
a0001c0001t0055g0185
a0001c0001t0059g0180
a0001c0001t0061g0163
a0001c0013t0022g0177
 28 HG00280.hp2
HG00323.hp2
HG01070.hp1
others(25): Show 
HG00280.hp2
HG00323.hp2
HG01070.hp1
HG01071.hp2
HG01168.hp2
HG01169.hp1
HG01192.hp1
HG01496.hp1
HG01978.hp1
HG02300.hp2
HG02683.hp2
HG02886.hp2
HG02896.hp2
HG03130.hp1
HG03225.hp1
HG03490.hp2
HG03492.hp2
HG03669.hp2
HG03704.hp2
HG03831.hp1
HG03927.hp2
NA18944.hp1
NA18951.hp2
NA18968.hp2
NA18993.hp2
NA19004.hp2
NA19068.hp2
NA20805.hp2
 intron_variant MODIFIER c.195+2076G>C
c.195+2076G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 1/10 chr21 36964368
chr21:36964528 G
G
 C
C
 1 a0002c0002t0002g0143
a0002c0002t0002g0143
 1 NA19088.hp1
NA19088.hp1
 intron_variant MODIFIER c.195+1916C>G
c.195+1916C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 1/10 chr21 36964528
chr21:36964529 G
G
 A
A
 1 a0002c0002t0002g0143
a0002c0002t0002g0143
 1 NA19088.hp1
NA19088.hp1
 intron_variant MODIFIER c.195+1915C>T
c.195+1915C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 1/10 chr21 36964529
chr21:36964531 T
T
 G
G
 1 a0002c0002t0002g0143
a0002c0002t0002g0143
 1 NA19088.hp1
NA19088.hp1
 intron_variant MODIFIER c.195+1913A>C
c.195+1913A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 1/10 chr21 36964531
chr21:36964534 A
A
 G
G
 146 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(143): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0003c0005t0092g0134
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
 146 HG00280.hp1
HG00438.hp1
HG00438.hp2
others(143): Show 
HG00280.hp1
HG00438.hp1
HG00438.hp2
HG00639.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02257.hp2
HG02300.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03490.hp1
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03710.hp1
HG03927.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19084.hp2
NA19088.hp2
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.195+1910T>C
c.195+1910T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 1/10 chr21 36964534
chr21:36964535 G
G
 C
C
 1 a0002c0002t0002g0143
a0002c0002t0002g0143
 1 NA19088.hp1
NA19088.hp1
 intron_variant MODIFIER c.195+1909C>G
c.195+1909C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 1/10 chr21 36964535
chr21:36964543 G
G
 T
T
 1 a0002c0002t0002g0143
a0002c0002t0002g0143
 1 NA19088.hp1
NA19088.hp1
 intron_variant MODIFIER c.195+1901C>A
c.195+1901C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 1/10 chr21 36964543
chr21:36964544 A
A
 T
T
 1 a0002c0002t0002g0143
a0002c0002t0002g0143
 1 NA19088.hp1
NA19088.hp1
 intron_variant MODIFIER c.195+1900T>A
c.195+1900T>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 1/10 chr21 36964544
chr21:36964666 A
A
 G
G
 1 a0001c0001t0044g0161
a0001c0001t0044g0161
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.195+1778T>C
c.195+1778T>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 1/10 chr21 36964666
chr21:36964823 C
C
 G
G
 57 a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
others(54): Show 
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0019g0101
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0038g0102
a0001c0001t0039g0126
a0001c0001t0071g0089
a0001c0001t0074g0087
a0001c0001t0076g0090
a0001c0001t0078g0108
a0001c0001t0080g0093
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0095g0117
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0109g0119
a0001c0004t0068g0088
a0001c0017t0108g0082
a0006c0016t0001g0116
a0007c0014t0070g0131
 57 HG00438.hp2
HG00639.hp2
HG00673.hp1
others(54): Show 
HG00438.hp2
HG00639.hp2
HG00673.hp1
HG00735.hp2
HG00741.hp1
HG01070.hp2
HG01071.hp1
HG01123.hp1
HG01346.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01891.hp2
HG01975.hp1
HG01981.hp1
HG02027.hp2
HG02040.hp2
HG02083.hp2
HG02145.hp2
HG02257.hp2
HG02523.hp2
HG02572.hp2
HG02895.hp1
HG02897.hp1
HG02965.hp2
HG03195.hp1
HG03195.hp2
HG03540.hp1
HG03927.hp1
HG04115.hp2
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp2
NA18940.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp2
NA18945.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18959.hp1
NA18970.hp2
NA18975.hp2
NA18979.hp2
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19074.hp2
NA19084.hp2
NA19088.hp2
NA19240.hp2
 intron_variant MODIFIER c.195+1621G>C
c.195+1621G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 1/10 chr21 36964823
chr21:36964896 T
T
 C
C
 146 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(143): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0003c0005t0092g0134
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
 146 HG00280.hp1
HG00438.hp1
HG00438.hp2
others(143): Show 
HG00280.hp1
HG00438.hp1
HG00438.hp2
HG00639.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02257.hp2
HG02300.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03490.hp1
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03710.hp1
HG03927.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19084.hp2
NA19088.hp2
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.195+1548A>G
c.195+1548A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 1/10 chr21 36964896
chr21:36964924 C
C
 T
T
 2 a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0003
a0001c0001t0005g0004
 2 HG02080.hp2
NA18945.hp1
HG02080.hp2
NA18945.hp1
 intron_variant MODIFIER c.195+1520G>A
c.195+1520G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 1/10 chr21 36964924
chr21:36965058 G
G
 A
A
 75 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(72): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0011g0022
a0001c0001t0016g0047
a0001c0001t0019g0061
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0029g0051
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0038g0054
a0001c0001t0039g0033
a0001c0001t0066g0059
a0001c0001t0075g0049
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0094g0031
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0018t0004g0060
a0008c0012t0035g0069
 75 HG00280.hp1
HG00438.hp1
HG00738.hp1
others(72): Show 
HG00280.hp1
HG00438.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01515.hp1
HG01516.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG02027.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02300.hp1
HG02486.hp1
HG02523.hp1
HG02602.hp2
HG02622.hp1
HG02683.hp1
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02922.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03490.hp1
HG03492.hp1
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04204.hp2
HG04228.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18948.hp1
NA18950.hp1
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19043.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.195+1386C>T
c.195+1386C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 1/10 chr21 36965058
chr21:36965104 T
T
 C
C
 146 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(143): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0003c0005t0092g0134
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
 146 HG00280.hp1
HG00438.hp1
HG00438.hp2
others(143): Show 
HG00280.hp1
HG00438.hp1
HG00438.hp2
HG00639.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02257.hp2
HG02300.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03490.hp1
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03710.hp1
HG03927.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19084.hp2
NA19088.hp2
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.195+1340A>G
c.195+1340A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 1/10 chr21 36965104
chr21:36965303 A
A
 C
C
 3 a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0014g0159
a0001c0001t0002g0158
a0001c0001t0002g0160
a0001c0001t0014g0159
 3 HG01192.hp1
HG03490.hp2
HG03669.hp2
HG01192.hp1
HG03490.hp2
HG03669.hp2
 intron_variant MODIFIER c.195+1141T>G
c.195+1141T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 1/10 chr21 36965303
chr21:36965565 G
G
 T
T
 17 a0001c0001t0015g0141
a0002c0002t0002g0143
a0002c0002t0002g0154
others(14): Show 
a0001c0001t0015g0141
a0002c0002t0002g0143
a0002c0002t0002g0154
a0002c0002t0002g0155
a0002c0002t0003g0156
a0002c0002t0013g0147
a0002c0002t0015g0142
a0002c0002t0018g0153
a0002c0002t0025g0146
a0002c0002t0025g0149
a0002c0002t0027g0157
a0002c0002t0041g0148
a0002c0002t0043g0152
a0002c0002t0045g0151
a0002c0002t0046g0150
a0002c0002t0048g0144
a0002c0002t0062g0145
 17 HG00639.hp1
HG02135.hp2
HG02280.hp2
others(14): Show 
HG00639.hp1
HG02135.hp2
HG02280.hp2
HG02602.hp1
HG02723.hp1
HG03139.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03516.hp2
HG03579.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18951.hp1
NA18961.hp1
NA19088.hp1
 intron_variant MODIFIER c.195+879C>A
c.195+879C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 1/10 chr21 36965565
chr21:36965616 G
G
 C
C
 146 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(143): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0003c0005t0092g0134
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
 146 HG00280.hp1
HG00438.hp1
HG00438.hp2
others(143): Show 
HG00280.hp1
HG00438.hp1
HG00438.hp2
HG00639.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02257.hp2
HG02300.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03490.hp1
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03710.hp1
HG03927.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19084.hp2
NA19088.hp2
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.195+828C>G
c.195+828C>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 1/10 chr21 36965616
chr21:36965655 G
G
 A
A
 71 a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
others(68): Show 
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0004g0138
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0019g0101
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0136
a0001c0001t0030g0257
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0102
a0001c0001t0039g0126
a0001c0001t0065g0252
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0074g0087
a0001c0001t0076g0090
a0001c0001t0078g0108
a0001c0001t0080g0093
a0001c0001t0082g0112
a0001c0001t0085g0110
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0093g0133
a0001c0001t0095g0117
a0001c0001t0099g0124
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0106g0253
a0001c0001t0109g0119
a0001c0003t0111g0137
a0001c0004t0068g0088
a0001c0017t0108g0082
a0003c0005t0092g0134
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
 71 HG00438.hp2
HG00639.hp2
HG00673.hp1
others(68): Show 
HG00438.hp2
HG00639.hp2
HG00673.hp1
HG00735.hp2
HG00741.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp2
HG01123.hp1
HG01175.hp1
HG01175.hp2
HG01346.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01891.hp2
HG01975.hp1
HG01981.hp1
HG02027.hp2
HG02040.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp2
HG02523.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02897.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03540.hp1
HG03927.hp1
HG04115.hp2
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp2
NA18940.hp2
NA18941.hp2
NA18942.hp2
NA18944.hp2
NA18945.hp2
NA18947.hp1
NA18948.hp2
NA18952.hp1
NA18959.hp1
NA18970.hp2
NA18975.hp2
NA18979.hp2
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19074.hp2
NA19084.hp2
NA19088.hp2
NA19240.hp2
 intron_variant MODIFIER c.195+789C>T
c.195+789C>T
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 1/10 chr21 36965655
chr21:36965731 A
A
 AT
AT
 141 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(138): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0003c0005t0092g0134
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
 141 HG00438.hp1
HG00438.hp2
HG00639.hp2
others(138): Show 
HG00438.hp1
HG00438.hp2
HG00639.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02257.hp2
HG02300.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03490.hp1
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03710.hp1
HG03927.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19084.hp2
NA19088.hp2
NA19240.hp2
 intron_variant MODIFIER c.195+712dupA
c.195+712dupA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 1/10 chr21 36965731
chr21:36965749 T
T
 G
G
 146 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(143): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0003c0005t0092g0134
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
 146 HG00280.hp1
HG00438.hp1
HG00438.hp2
others(143): Show 
HG00280.hp1
HG00438.hp1
HG00438.hp2
HG00639.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02257.hp2
HG02300.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03490.hp1
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03710.hp1
HG03927.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19084.hp2
NA19088.hp2
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.195+695A>C
c.195+695A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 1/10 chr21 36965749
chr21:36965821 T
T
 C
C
 1 a0001c0001t0010g0249
a0001c0001t0010g0249
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.195+623A>G
c.195+623A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 1/10 chr21 36965821
chr21:36965924 T
T
 TTTTTG
TTTTTG
 145 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(142): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0003c0005t0092g0134
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
 145 HG00280.hp1
HG00438.hp1
HG00438.hp2
others(142): Show 
HG00280.hp1
HG00438.hp1
HG00438.hp2
HG00639.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02257.hp2
HG02300.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03490.hp1
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03710.hp1
HG03927.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19084.hp2
NA19088.hp2
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.195+515_195+519dup
others(5): Show 
c.195+515_195+519dupCAAAA
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 1/10 chr21 36965924
chr21:36965940 T
T
 G
G
 1 a0001c0001t0084g0075
a0001c0001t0084g0075
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.195+504A>C
c.195+504A>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 1/10 chr21 36965940
chr21:36966004 T
T
 C
C
 148 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(145): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0006g0256
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0026g0250
a0001c0001t0026g0251
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0030g0257
a0001c0001t0031g0057
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0037g0254
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0065g0252
a0001c0001t0066g0059
a0001c0001t0069g0255
a0001c0001t0071g0089
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0106g0253
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0003c0005t0092g0134
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
 148 HG00280.hp1
HG00438.hp1
HG00438.hp2
others(145): Show 
HG00280.hp1
HG00438.hp1
HG00438.hp2
HG00639.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02257.hp2
HG02300.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03490.hp1
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03710.hp1
HG03927.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19084.hp2
NA19088.hp2
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.195+440A>G
c.195+440A>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 1/10 chr21 36966004
chr21:36966029 G
G
 T
T
 75 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(72): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0011g0022
a0001c0001t0016g0047
a0001c0001t0019g0061
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0029g0051
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0038g0054
a0001c0001t0039g0033
a0001c0001t0066g0059
a0001c0001t0075g0049
a0001c0001t0077g0039
a0001c0001t0079g0026
a0001c0001t0081g0016
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0086g0044
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0094g0031
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0110g0023
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0018t0004g0060
a0008c0012t0035g0069
 75 HG00280.hp1
HG00438.hp1
HG00738.hp1
others(72): Show 
HG00280.hp1
HG00438.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01515.hp1
HG01516.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG02027.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02300.hp1
HG02486.hp1
HG02523.hp1
HG02602.hp2
HG02622.hp1
HG02683.hp1
HG02717.hp1
HG02818.hp1
HG02818.hp2
HG02922.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03490.hp1
HG03492.hp1
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04204.hp2
HG04228.hp1
NA18940.hp1
NA18941.hp1
NA18942.hp1
NA18945.hp1
NA18948.hp1
NA18950.hp1
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19043.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.195+415C>A
c.195+415C>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 1/10 chr21 36966029
chr21:36966188 A
A
 C
C
 2 a0001c0001t0015g0141
a0002c0002t0015g0142
a0001c0001t0015g0141
a0002c0002t0015g0142
 2 HG02723.hp1
HG03453.hp1
HG02723.hp1
HG03453.hp1
 intron_variant MODIFIER c.195+256T>G
c.195+256T>G
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 1/10 chr21 36966188
chr21:36966351 C
C
 T
T
 140 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(137): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0003c0005t0092g0134
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
 140 HG00280.hp1
HG00438.hp1
HG00438.hp2
others(137): Show 
HG00280.hp1
HG00438.hp1
HG00438.hp2
HG00639.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02257.hp2
HG02300.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03490.hp1
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03710.hp1
HG03927.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19084.hp2
NA19088.hp2
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.195+93G>A
c.195+93G>A
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 1/10 chr21 36966351
chr21:36966365 C
C
 G
G
 140 a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
others(137): Show 
a0001c0001t0001g0006
a0001c0001t0001g0010
a0001c0001t0001g0011
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0028
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0062
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0077
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0120
a0001c0001t0001g0122
a0001c0001t0001g0128
a0001c0001t0004g0007
a0001c0001t0004g0009
a0001c0001t0004g0014
a0001c0001t0004g0015
a0001c0001t0004g0032
a0001c0001t0004g0045
a0001c0001t0004g0058
a0001c0001t0004g0138
a0001c0001t0005g0003
a0001c0001t0005g0004
a0001c0001t0005g0021
a0001c0001t0005g0052
a0001c0001t0005g0056
a0001c0001t0005g0086
a0001c0001t0005g0094
a0001c0001t0005g0113
a0001c0001t0005g0115
a0001c0001t0005g0135
a0001c0001t0006g0012
a0001c0001t0006g0019
a0001c0001t0006g0029
a0001c0001t0006g0085
a0001c0001t0006g0096
a0001c0001t0006g0109
a0001c0001t0006g0125
a0001c0001t0006g0127
a0001c0001t0006g0132
a0001c0001t0008g0018
a0001c0001t0008g0055
a0001c0001t0008g0064
a0001c0001t0008g0065
a0001c0001t0008g0078
a0001c0001t0008g0084
a0001c0001t0011g0022
a0001c0001t0011g0103
a0001c0001t0011g0107
a0001c0001t0011g0118
a0001c0001t0016g0047
a0001c0001t0016g0091
a0001c0001t0016g0098
a0001c0001t0016g0106
a0001c0001t0019g0061
a0001c0001t0019g0101
a0001c0001t0020g0002
a0001c0001t0020g0034
a0001c0001t0020g0121
a0001c0001t0021g0076
a0001c0001t0021g0129
a0001c0001t0021g0130
a0001c0001t0029g0051
a0001c0001t0029g0136
a0001c0001t0030g0048
a0001c0001t0031g0057
a0001c0001t0032g0081
a0001c0001t0032g0111
a0001c0001t0033g0104
a0001c0001t0034g0030
a0001c0001t0034g0070
a0001c0001t0035g0097
a0001c0001t0036g0123
a0001c0001t0036g0140
a0001c0001t0037g0083
a0001c0001t0038g0054
a0001c0001t0038g0102
a0001c0001t0039g0033
a0001c0001t0039g0126
a0001c0001t0066g0059
a0001c0001t0071g0089
a0001c0001t0074g0087
a0001c0001t0075g0049
a0001c0001t0076g0090
a0001c0001t0077g0039
a0001c0001t0078g0108
a0001c0001t0079g0026
a0001c0001t0080g0093
a0001c0001t0081g0016
a0001c0001t0082g0112
a0001c0001t0083g0013
a0001c0001t0084g0075
a0001c0001t0085g0110
a0001c0001t0086g0044
a0001c0001t0087g0095
a0001c0001t0088g0105
a0001c0001t0089g0099
a0001c0001t0090g0005
a0001c0001t0091g0042
a0001c0001t0093g0133
a0001c0001t0094g0031
a0001c0001t0095g0117
a0001c0001t0096g0025
a0001c0001t0097g0038
a0001c0001t0098g0035
a0001c0001t0099g0124
a0001c0001t0100g0073
a0001c0001t0101g0008
a0001c0001t0102g0063
a0001c0001t0103g0100
a0001c0001t0104g0114
a0001c0001t0105g0053
a0001c0001t0107g0050
a0001c0001t0109g0119
a0001c0001t0110g0023
a0001c0003t0111g0137
a0001c0004t0004g0046
a0001c0004t0067g0067
a0001c0004t0068g0088
a0001c0008t0008g0001
a0001c0010t0011g0020
a0001c0017t0108g0082
a0001c0018t0004g0060
a0003c0005t0092g0134
a0005c0011t0033g0139
a0006c0016t0001g0116
a0007c0014t0070g0131
a0008c0012t0035g0069
 140 HG00280.hp1
HG00438.hp1
HG00438.hp2
others(137): Show 
HG00280.hp1
HG00438.hp1
HG00438.hp2
HG00639.hp2
HG00673.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01257.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02257.hp2
HG02300.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03195.hp1
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03490.hp1
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03710.hp1
HG03927.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18952.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp2
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18979.hp2
NA18984.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp1
NA19004.hp1
NA19009.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19057.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19084.hp2
NA19088.hp2
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.195+79G>C
c.195+79G>C
HLCS ENSG00000159267.17 transcript ENST00000674895.3 protein_coding 1/10 chr21 36966365

  • 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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