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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

  Error connecting to IGV?   ASCL1_chr12_102952674_102965513  ASCL1_chr12_102952674_102965513 (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 429
ensemblid ENSG00000139352.4
hgncid 738
symbol ASCL1
name achaete-scute family bHLH transcription factor 1
refseq_nuc NM_004316.4
refseq_prot NP_004307.2
ensembl_nuc ENST00000266744.4
ensembl_prot ENSP00000266744.3
mane_status MANE Select
chr chr12
start 102957674
end 102960513
strand +
ver v1.2
region chr12:102957674-102960513
region5000 chr12:102952674-102965513
regionname0 ASCL1_chr12_102957674_102960513
regionname5000 ASCL1_chr12_102952674_102965513

ahapid grch38/
chm13v2 		alen total AFR AMR EAS EUR SAS JPT regionname genename aa chr start end
a0001 1/1 236 219 42 43 98 9 25 70 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0002 0/0 237 62 29 16 7 5 5 4 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0003 0/0 239 40 6 3 29 0 2 24 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0004 0/0 235 9 5 2 2 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0005 0/0 238 7 4 1 0 0 2 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0006 0/0 240 5 2 3 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0007 0/0 233 4 0 1 0 0 3 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0008 0/0 241 2 2 0 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0009 0/0 225 1 0 0 0 0 1 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0010 0/0 236 1 1 0 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0011 0/0 232 1 0 0 0 0 1 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0012 0/0 236 1 0 0 0 0 1 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0013 0/0 242 1 1 0 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0014 0/0 237 1 0 1 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513

chapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
c0001 1/1 711 213 36 43 98 9 25 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
c0002 0/0 714 48 23 11 7 2 5 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
c0003 0/0 720 40 6 3 29 0 2 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
c0004 0/0 717 7 4 1 0 0 2 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
c0005 0/0 714 6 3 1 0 2 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
c0006 0/0 711 6 6 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
c0007 0/0 708 6 4 2 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
c0008 0/0 702 4 0 1 0 0 3 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
c0009 0/0 714 4 0 4 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
c0010 0/0 723 3 0 3 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
c0011 0/0 714 3 3 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
c0012 0/0 723 2 2 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
c0013 0/0 708 2 0 0 2 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
c0014 0/0 714 1 0 1 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
c0015 0/0 678 1 0 0 0 0 1 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
c0016 0/0 729 1 1 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
c0017 0/0 726 1 1 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
c0018 0/0 726 1 1 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
c0019 0/0 711 1 0 0 0 0 1 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
c0020 0/0 708 1 1 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
c0021 0/0 699 1 0 0 0 0 1 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
c0022 0/0 711 1 1 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
c0023 0/0 714 1 0 0 0 1 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513

thapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
t0001 0/1 1769 169 15 38 84 3 28 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
t0002 0/0 1769 65 33 11 14 1 6 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
t0003 0/0 1770 49 9 7 25 4 4 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
t0004 0/0 1769 9 4 2 0 3 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
t0005 0/0 1765 8 6 2 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
t0006 0/0 1765 8 1 6 0 1 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
t0007 0/0 1769 6 6 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
t0008 0/0 1771 6 0 0 6 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
t0009 0/0 1769 6 6 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
t0010 1/0 1771 4 0 0 1 2 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
t0011 0/0 1769 4 3 1 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
t0012 0/0 1769 2 1 1 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
t0013 0/0 1769 2 2 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
t0014 0/0 1769 2 2 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
t0015 0/0 1769 2 0 0 2 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
t0016 0/0 1770 1 0 0 0 0 1 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
t0017 0/0 1765 1 1 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
t0018 0/0 1765 1 1 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
t0019 0/0 1770 1 1 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
t0020 0/0 1769 1 0 0 1 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
t0021 0/0 1769 1 0 0 0 0 1 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
t0022 0/0 1769 1 1 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
t0023 0/0 1770 1 0 1 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
t0024 0/0 1769 1 0 1 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
t0025 0/0 1770 1 0 0 1 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
t0026 0/0 1769 1 0 0 1 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
t0027 0/0 1769 1 0 0 1 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513

ghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
g0001 1/1 350 89 70 135 14 40 ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
g0002 0/0 2 2 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
g0003 0/0 1 1 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
g0004 0/0 1 0 0 1 0 0 ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513

achapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
a0001c0001 1/1 711 213 36 43 98 9 25 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0001c0006 0/0 711 6 6 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0002c0002 0/0 714 48 23 11 7 2 5 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0002c0005 0/0 714 6 3 1 0 2 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0002c0009 0/0 714 4 0 4 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0002c0011 0/0 714 3 3 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0002c0023 0/0 714 1 0 0 0 1 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0003c0003 0/0 720 40 6 3 29 0 2 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0004c0007 0/0 708 6 4 2 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0004c0013 0/0 708 2 0 0 2 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0004c0020 0/0 708 1 1 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0005c0004 0/0 717 7 4 1 0 0 2 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0006c0010 0/0 723 3 0 3 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0006c0012 0/0 723 2 2 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0007c0008 0/0 702 4 0 1 0 0 3 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0008c0017 0/0 726 1 1 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0008c0018 0/0 726 1 1 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0009c0015 0/0 678 1 0 0 0 0 1 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0010c0022 0/0 711 1 1 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0011c0021 0/0 699 1 0 0 0 0 1 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0012c0019 0/0 711 1 0 0 0 0 1 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0013c0016 0/0 729 1 1 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0014c0014 0/0 714 1 0 1 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513

acthapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
a0001c0001t0001 0/1 2479 147 15 33 72 3 23 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0001c0001t0002 0/0 2479 3 2 1 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0001c0001t0003 0/0 2480 40 7 7 21 4 1 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0001c0001t0007 0/0 2479 6 6 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0001c0001t0009 0/0 2479 1 1 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0001c0001t0010 1/0 2481 4 0 0 1 2 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0001c0001t0011 0/0 2479 4 3 1 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0001c0001t0014 0/0 2479 2 2 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0001c0001t0015 0/0 2479 2 0 0 2 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0001c0001t0021 0/0 2479 1 0 0 0 0 1 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0001c0001t0024 0/0 2479 1 0 1 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0001c0001t0025 0/0 2480 1 0 0 1 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0001c0001t0026 0/0 2479 1 0 0 1 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0001c0006t0003 0/0 2480 2 2 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0001c0006t0009 0/0 2479 4 4 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0002c0002t0001 0/0 2482 1 0 0 1 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0002c0002t0002 0/0 2482 35 20 8 1 1 5 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0002c0002t0003 0/0 2483 4 0 0 4 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0002c0002t0005 0/0 2478 2 1 1 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0002c0002t0006 0/0 2478 4 1 2 0 1 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0002c0002t0019 0/0 2483 1 1 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0002c0002t0027 0/0 2482 1 0 0 1 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0002c0005t0004 0/0 2482 2 0 0 0 2 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0002c0005t0005 0/0 2478 3 2 1 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0002c0005t0009 0/0 2482 1 1 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0002c0009t0006 0/0 2478 4 0 4 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0002c0011t0002 0/0 2482 3 3 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0002c0023t0004 0/0 2482 1 0 0 0 1 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0003c0003t0001 0/0 2488 12 0 2 9 0 1 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0003c0003t0002 0/0 2488 19 5 1 13 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0003c0003t0004 0/0 2488 1 1 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0003c0003t0008 0/0 2490 6 0 0 6 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0003c0003t0016 0/0 2489 1 0 0 0 0 1 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0003c0003t0020 0/0 2488 1 0 0 1 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0004c0007t0002 0/0 2476 1 1 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0004c0007t0004 0/0 2476 5 3 2 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0004c0013t0001 0/0 2476 2 0 0 2 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0004c0020t0002 0/0 2476 1 1 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0005c0004t0001 0/0 2485 1 0 0 0 0 1 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0005c0004t0002 0/0 2485 2 1 0 0 0 1 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0005c0004t0012 0/0 2485 1 0 1 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0005c0004t0013 0/0 2485 2 2 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0005c0004t0018 0/0 2481 1 1 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0006c0010t0001 0/0 2491 3 0 3 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0006c0012t0005 0/0 2487 2 2 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0007c0008t0003 0/0 2471 3 0 0 0 0 3 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0007c0008t0023 0/0 2471 1 0 1 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0008c0017t0012 0/0 2494 1 1 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0008c0018t0005 0/0 2490 1 1 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0009c0015t0001 0/0 2446 1 0 0 0 0 1 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0010c0022t0022 0/0 2479 1 1 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0011c0021t0001 0/0 2467 1 0 0 0 0 1 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0012c0019t0001 0/0 2479 1 0 0 0 0 1 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0013c0016t0017 0/0 2493 1 1 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513
a0014c0014t0002 0/0 2482 1 0 1 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 copy fasta chr12 102952674 102965513

actghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
a0001c0001t0001g0001 0/1 144 13 33 71 3 23 ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
a0001c0001t0001g0002 0/0 2 2 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
a0001c0001t0001g0004 0/0 1 0 0 1 0 0 ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
a0001c0001t0002g0001 0/0 3 2 1 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
a0001c0001t0003g0001 0/0 40 7 7 21 4 1 ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
a0001c0001t0007g0001 0/0 6 6 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
a0001c0001t0009g0001 0/0 1 1 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
a0001c0001t0010g0001 1/0 4 0 0 1 2 0 ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
a0001c0001t0011g0001 0/0 4 3 1 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
a0001c0001t0014g0001 0/0 2 2 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
a0001c0001t0015g0001 0/0 2 0 0 2 0 0 ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
a0001c0001t0021g0001 0/0 1 0 0 0 0 1 ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
a0001c0001t0024g0001 0/0 1 0 1 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
a0001c0001t0025g0001 0/0 1 0 0 1 0 0 ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
a0001c0001t0026g0001 0/0 1 0 0 1 0 0 ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
a0001c0006t0003g0001 0/0 2 2 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
a0001c0006t0009g0001 0/0 4 4 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
a0002c0002t0001g0001 0/0 1 0 0 1 0 0 ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
a0002c0002t0002g0001 0/0 35 20 8 1 1 5 ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
a0002c0002t0003g0001 0/0 4 0 0 4 0 0 ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
a0002c0002t0005g0001 0/0 2 1 1 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
a0002c0002t0006g0001 0/0 4 1 2 0 1 0 ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
a0002c0002t0019g0001 0/0 1 1 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
a0002c0002t0027g0001 0/0 1 0 0 1 0 0 ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
a0002c0005t0004g0001 0/0 2 0 0 0 2 0 ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
a0002c0005t0005g0001 0/0 3 2 1 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
a0002c0005t0009g0001 0/0 1 1 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
a0002c0009t0006g0001 0/0 4 0 4 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
a0002c0011t0002g0001 0/0 3 3 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
a0002c0023t0004g0001 0/0 1 0 0 0 1 0 ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
a0003c0003t0001g0001 0/0 12 0 2 9 0 1 ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
a0003c0003t0002g0001 0/0 19 5 1 13 0 0 ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
a0003c0003t0004g0001 0/0 1 1 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
a0003c0003t0008g0001 0/0 6 0 0 6 0 0 ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
a0003c0003t0016g0001 0/0 1 0 0 0 0 1 ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
a0003c0003t0020g0001 0/0 1 0 0 1 0 0 ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
a0004c0007t0002g0001 0/0 1 1 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
a0004c0007t0004g0001 0/0 5 3 2 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
a0004c0013t0001g0001 0/0 2 0 0 2 0 0 ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
a0004c0020t0002g0001 0/0 1 1 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
a0005c0004t0001g0001 0/0 1 0 0 0 0 1 ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
a0005c0004t0002g0001 0/0 2 1 0 0 0 1 ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
a0005c0004t0012g0001 0/0 1 0 1 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
a0005c0004t0013g0001 0/0 2 2 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
a0005c0004t0018g0001 0/0 1 1 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
a0006c0010t0001g0001 0/0 3 0 3 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
a0006c0012t0005g0001 0/0 2 2 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
a0007c0008t0003g0001 0/0 3 0 0 0 0 3 ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
a0007c0008t0023g0001 0/0 1 0 1 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
a0008c0017t0012g0001 0/0 1 1 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
a0008c0018t0005g0001 0/0 1 1 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
a0009c0015t0001g0001 0/0 1 0 0 0 0 1 ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
a0010c0022t0022g0003 0/0 1 1 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
a0011c0021t0001g0001 0/0 1 0 0 0 0 1 ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
a0012c0019t0001g0001 0/0 1 0 0 0 0 1 ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
a0013c0016t0017g0001 0/0 1 1 0 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
a0014c0014t0002g0001 0/0 1 0 1 0 0 0 ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513

sampleid ID
haplotypeid
 ahapid chapid thapid ghapid gpopname popname regionname genename chr start end
HG00099 hp1 a0001 c0001 t0003 g0001 EUR GBR ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG00099 hp2 a0001 c0001 t0001 g0001 EUR GBR ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG00140 hp1 a0002 c0002 t0006 g0001 EUR GBR ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG00140 hp2 a0002 c0005 t0004 g0001 EUR GBR ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG00280 hp1 a0001 c0001 t0001 g0001 EUR FIN ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG00280 hp2 a0002 c0002 t0002 g0001 EUR FIN ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG00323 hp1 a0001 c0001 t0003 g0001 EUR FIN ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG00323 hp2 a0002 c0023 t0004 g0001 EUR FIN ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG00423 hp1 a0001 c0001 t0001 g0001 EAS CHS ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG00423 hp2 a0004 c0013 t0001 g0001 EAS CHS ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG00558 hp1 a0003 c0003 t0020 g0001 EAS CHS ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG00558 hp2 a0003 c0003 t0008 g0001 EAS CHS ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG00597 hp1 a0001 c0001 t0001 g0001 EAS CHS ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG00597 hp2 a0001 c0001 t0001 g0001 EAS CHS ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG00609 hp1 a0002 c0002 t0003 g0001 EAS CHS ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG00609 hp2 a0001 c0001 t0010 g0001 EAS CHS ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG00621 hp1 a0001 c0001 t0001 g0001 EAS CHS ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG00621 hp2 a0001 c0001 t0001 g0001 EAS CHS ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG00639 hp1 a0001 c0001 t0001 g0001 AMR PUR ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG00639 hp2 a0002 c0002 t0002 g0001 AMR PUR ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG00673 hp1 a0001 c0001 t0001 g0001 EAS CHS ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG00673 hp2 a0001 c0001 t0001 g0001 EAS CHS ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG00733 hp1 a0001 c0001 t0003 g0001 AMR PUR ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG00733 hp2 a0002 c0002 t0002 g0001 AMR PUR ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG00735 hp1 a0001 c0001 t0001 g0001 AMR PUR ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG00735 hp2 a0001 c0001 t0001 g0001 AMR PUR ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG00738 hp1 a0001 c0001 t0001 g0001 AMR PUR ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG00738 hp2 a0002 c0002 t0002 g0001 AMR PUR ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG00741 hp1 a0004 c0007 t0004 g0001 AMR PUR ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG00741 hp2 a0002 c0002 t0002 g0001 AMR PUR ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG01069 hp1 a0001 c0001 t0001 g0001 AMR PUR ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG01069 hp2 a0001 c0001 t0001 g0001 AMR PUR ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG01071 hp1 a0001 c0001 t0001 g0001 AMR PUR ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG01071 hp2 a0001 c0001 t0001 g0001 AMR PUR ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG01074 hp1 a0001 c0001 t0001 g0001 AMR PUR ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG01074 hp2 a0002 c0009 t0006 g0001 AMR PUR ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG01081 hp1 a0005 c0004 t0012 g0001 AMR PUR ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG01081 hp2 a0001 c0001 t0024 g0001 AMR PUR ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG01106 hp1 a0004 c0007 t0004 g0001 AMR PUR ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG01106 hp2 a0001 c0001 t0001 g0001 AMR PUR ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG01109 hp1 a0002 c0002 t0002 g0001 AMR PUR ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG01109 hp2 a0002 c0002 t0005 g0001 AMR PUR ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG01167 hp1 a0001 c0001 t0003 g0001 AMR PUR ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG01167 hp2 a0001 c0001 t0001 g0001 AMR PUR ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG01168 hp1 a0007 c0008 t0023 g0001 AMR PUR ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG01168 hp2 a0001 c0001 t0001 g0001 AMR PUR ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG01169 hp1 a0001 c0001 t0001 g0001 AMR PUR ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG01169 hp2 a0001 c0001 t0001 g0001 AMR PUR ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG01175 hp1 a0001 c0001 t0003 g0001 AMR PUR ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG01175 hp2 a0001 c0001 t0001 g0001 AMR PUR ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG01192 hp1 a0001 c0001 t0003 g0001 AMR PUR ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG01192 hp2 a0001 c0001 t0003 g0001 AMR PUR ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG01243 hp1 a0002 c0005 t0005 g0001 AMR PUR ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG01243 hp2 a0001 c0001 t0001 g0001 AMR PUR ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG01255 hp1 a0001 c0001 t0001 g0001 AMR CLM ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG01255 hp2 a0002 c0009 t0006 g0001 AMR CLM ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG01256 hp1 a0001 c0001 t0003 g0001 AMR CLM ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG01256 hp2 a0001 c0001 t0001 g0001 AMR CLM ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG01257 hp1 a0003 c0003 t0001 g0001 AMR CLM ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG01257 hp2 a0001 c0001 t0001 g0001 AMR CLM ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG01261 hp1 a0001 c0001 t0001 g0001 AMR CLM ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG01261 hp2 a0001 c0001 t0003 g0001 AMR CLM ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG01346 hp1 a0002 c0002 t0006 g0001 AMR CLM ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG01346 hp2 a0001 c0001 t0001 g0001 AMR CLM ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG01358 hp1 a0006 c0010 t0001 g0001 AMR CLM ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG01358 hp2 a0006 c0010 t0001 g0001 AMR CLM ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG01361 hp1 a0001 c0001 t0001 g0001 AMR CLM ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG01361 hp2 a0001 c0001 t0001 g0001 AMR CLM ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG01433 hp1 a0001 c0001 t0001 g0001 AMR CLM ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG01433 hp2 a0001 c0001 t0001 g0001 AMR CLM ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG01496 hp1 a0002 c0002 t0002 g0001 AMR CLM ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG01496 hp2 a0001 c0001 t0011 g0001 AMR CLM ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG01516 hp1 a0001 c0001 t0003 g0001 EUR IBS ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG01516 hp2 a0001 c0001 t0001 g0001 EUR IBS ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG01517 hp1 a0001 c0001 t0003 g0001 EUR IBS ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG01517 hp2 a0002 c0005 t0004 g0001 EUR IBS ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG01884 hp1 a0002 c0002 t0002 g0001 AFR ACB ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG01884 hp2 a0001 c0006 t0009 g0001 AFR ACB ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG01891 hp1 a0002 c0002 t0002 g0001 AFR ACB ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG01891 hp2 a0001 c0006 t0009 g0001 AFR ACB ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG01928 hp1 a0001 c0001 t0001 g0001 AMR PEL ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG01928 hp2 a0001 c0001 t0002 g0001 AMR PEL ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG01934 hp1 a0003 c0003 t0002 g0001 AMR PEL ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG01934 hp2 a0003 c0003 t0001 g0001 AMR PEL ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG01943 hp1 a0001 c0001 t0001 g0001 AMR PEL ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG01943 hp2 a0002 c0002 t0006 g0001 AMR PEL ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG01952 hp1 a0006 c0010 t0001 g0001 AMR PEL ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG01952 hp2 a0001 c0001 t0001 g0001 AMR PEL ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG01981 hp1 a0001 c0001 t0001 g0001 AMR PEL ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG01981 hp2 a0001 c0001 t0001 g0001 AMR PEL ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02004 hp1 a0002 c0009 t0006 g0001 AMR PEL ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02004 hp2 a0001 c0001 t0001 g0001 AMR PEL ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02015 hp1 a0001 c0001 t0001 g0001 EAS KHV ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02015 hp2 a0003 c0003 t0002 g0001 EAS KHV ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02027 hp1 a0003 c0003 t0002 g0001 EAS KHV ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02027 hp2 a0001 c0001 t0001 g0001 EAS KHV ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02055 hp1 a0001 c0001 t0003 g0001 AFR ACB ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02055 hp2 a0001 c0001 t0003 g0001 AFR ACB ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02056 hp1 a0001 c0001 t0015 g0001 EAS KHV ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02056 hp2 a0001 c0001 t0001 g0001 EAS KHV ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02071 hp1 a0003 c0003 t0002 g0001 EAS KHV ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02071 hp2 a0001 c0001 t0001 g0001 EAS KHV ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02080 hp1 a0001 c0001 t0003 g0001 EAS KHV ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02080 hp2 a0002 c0002 t0003 g0001 EAS KHV ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02083 hp1 a0001 c0001 t0001 g0001 EAS KHV ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02083 hp2 a0002 c0002 t0002 g0001 EAS KHV ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02129 hp1 a0001 c0001 t0001 g0001 EAS KHV ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02129 hp2 a0001 c0001 t0015 g0001 EAS KHV ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02135 hp1 a0001 c0001 t0001 g0001 EAS KHV ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02135 hp2 a0004 c0013 t0001 g0001 EAS KHV ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02145 hp1 a0002 c0002 t0006 g0001 AFR ACB ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02145 hp2 a0002 c0002 t0002 g0001 AFR ACB ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02148 hp1 a0002 c0002 t0002 g0001 AMR PEL ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02148 hp2 a0001 c0001 t0001 g0001 AMR PEL ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02155 hp1 a0001 c0001 t0001 g0001 EAS CDX ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02155 hp2 a0001 c0001 t0001 g0001 EAS CDX ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02165 hp1 a0001 c0001 t0003 g0001 EAS CDX ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02165 hp2 a0001 c0001 t0001 g0001 EAS CDX ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02257 hp1 a0001 c0001 t0001 g0001 AFR ACB ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02257 hp2 a0008 c0017 t0012 g0001 AFR ACB ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02258 hp1 a0001 c0001 t0007 g0001 AFR ACB ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02258 hp2 a0002 c0002 t0019 g0001 AFR ACB ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02273 hp1 a0001 c0001 t0001 g0001 AMR PEL ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02273 hp2 a0014 c0014 t0002 g0001 AMR PEL ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02280 hp1 a0008 c0018 t0005 g0001 AFR ACB ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02280 hp2 a0002 c0002 t0002 g0001 AFR ACB ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02523 hp1 a0001 c0001 t0001 g0001 EAS KHV ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02523 hp2 a0001 c0001 t0001 g0001 EAS KHV ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02572 hp1 a0001 c0001 t0001 g0001 AFR GWD ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02572 hp2 a0001 c0006 t0003 g0001 AFR GWD ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02615 hp1 a0001 c0001 t0002 g0001 AFR GWD ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02615 hp2 a0002 c0002 t0002 g0001 AFR GWD ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02622 hp1 a0002 c0002 t0002 g0001 AFR GWD ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02622 hp2 a0001 c0001 t0009 g0001 AFR GWD ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02630 hp1 a0002 c0002 t0002 g0001 AFR GWD ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02630 hp2 a0001 c0001 t0001 g0001 AFR GWD ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02647 hp1 a0005 c0004 t0013 g0001 AFR GWD ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02647 hp2 a0001 c0001 t0001 g0001 AFR GWD ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02683 hp1 a0001 c0001 t0001 g0001 SAS PJL ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02683 hp2 a0001 c0001 t0001 g0001 SAS PJL ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02717 hp1 a0005 c0004 t0002 g0001 AFR GWD ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02717 hp2 a0002 c0002 t0002 g0001 AFR GWD ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02723 hp1 a0013 c0016 t0017 g0001 AFR GWD ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02723 hp2 a0005 c0004 t0013 g0001 AFR GWD ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02735 hp1 a0001 c0001 t0001 g0001 SAS PJL ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02735 hp2 a0001 c0001 t0001 g0001 SAS PJL ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02738 hp1 a0002 c0002 t0002 g0001 SAS PJL ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02738 hp2 a0005 c0004 t0001 g0001 SAS PJL ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02809 hp1 a0002 c0011 t0002 g0001 AFR GWD ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02809 hp2 a0002 c0002 t0002 g0001 AFR GWD ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02818 hp1 a0006 c0012 t0005 g0001 AFR GWD ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02818 hp2 a0003 c0003 t0004 g0001 AFR GWD ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02886 hp1 a0001 c0001 t0011 g0001 AFR GWD ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02886 hp2 a0003 c0003 t0002 g0001 AFR GWD ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02895 hp1 a0002 c0002 t0002 g0001 AFR GWD ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02895 hp2 a0001 c0001 t0007 g0001 AFR GWD ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02896 hp1 a0001 c0001 t0011 g0001 AFR GWD ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02896 hp2 a0001 c0001 t0014 g0001 AFR GWD ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02897 hp1 a0001 c0001 t0014 g0001 AFR GWD ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02897 hp2 a0001 c0001 t0007 g0001 AFR GWD ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02922 hp1 a0004 c0007 t0004 g0001 AFR ESN ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02922 hp2 a0002 c0005 t0009 g0001 AFR ESN ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02965 hp1 a0002 c0002 t0002 g0001 AFR ESN ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02965 hp2 a0001 c0001 t0002 g0001 AFR ESN ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02970 hp1 a0001 c0001 t0003 g0001 AFR ESN ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02970 hp2 a0001 c0001 t0001 g0001 AFR ESN ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02976 hp1 a0004 c0007 t0004 g0001 AFR ESN ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02976 hp2 a0002 c0011 t0002 g0001 AFR ESN ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG03017 hp1 a0001 c0001 t0001 g0001 SAS PJL ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG03017 hp2 a0001 c0001 t0001 g0001 SAS PJL ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG03041 hp1 a0001 c0001 t0011 g0001 AFR GWD ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG03041 hp2 a0002 c0002 t0002 g0001 AFR GWD ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG03098 hp1 a0003 c0003 t0002 g0001 AFR MSL ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG03098 hp2 a0002 c0002 t0005 g0001 AFR MSL ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG03130 hp1 a0001 c0001 t0001 g0001 AFR ESN ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG03130 hp2 a0001 c0001 t0001 g0002 AFR ESN ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG03139 hp1 a0001 c0001 t0003 g0001 AFR ESN ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG03139 hp2 a0001 c0001 t0007 g0001 AFR ESN ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG03209 hp1 a0004 c0020 t0002 g0001 AFR MSL ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG03209 hp2 a0002 c0002 t0002 g0001 AFR MSL ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG03225 hp1 a0001 c0001 t0001 g0001 AFR MSL ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG03225 hp2 a0004 c0007 t0004 g0001 AFR MSL ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG03239 hp1 a0001 c0001 t0001 g0001 SAS PJL ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG03239 hp2 a0001 c0001 t0021 g0001 SAS PJL ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG03453 hp1 a0002 c0002 t0002 g0001 AFR MSL ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG03453 hp2 a0002 c0011 t0002 g0001 AFR MSL ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG03486 hp1 a0002 c0002 t0002 g0001 AFR MSL ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG03486 hp2 a0001 c0006 t0003 g0001 AFR MSL ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG03490 hp1 a0001 c0001 t0001 g0001 SAS PJL ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG03490 hp2 a0002 c0002 t0002 g0001 SAS PJL ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG03491 hp1 a0003 c0003 t0001 g0001 SAS PJL ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG03491 hp2 a0007 c0008 t0003 g0001 SAS PJL ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG03492 hp1 a0007 c0008 t0003 g0001 SAS PJL ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG03492 hp2 a0001 c0001 t0001 g0001 SAS PJL ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG03516 hp1 a0001 c0006 t0009 g0001 AFR ESN ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG03516 hp2 a0002 c0005 t0005 g0001 AFR ESN ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG03540 hp1 a0006 c0012 t0005 g0001 AFR GWD ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG03540 hp2 a0001 c0001 t0001 g0001 AFR GWD ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG03579 hp1 a0001 c0001 t0007 g0001 AFR MSL ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG03579 hp2 a0003 c0003 t0002 g0001 AFR MSL ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG03654 hp1 a0001 c0001 t0001 g0001 SAS PJL ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG03654 hp2 a0001 c0001 t0001 g0001 SAS PJL ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG03688 hp1 a0009 c0015 t0001 g0001 SAS STU ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG03688 hp2 a0001 c0001 t0001 g0001 SAS STU ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG03704 hp1 a0011 c0021 t0001 g0001 SAS PJL ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG03704 hp2 a0001 c0001 t0001 g0001 SAS PJL ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG03710 hp1 a0001 c0001 t0001 g0001 SAS PJL ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG03710 hp2 a0001 c0001 t0001 g0001 SAS PJL ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG03831 hp1 a0001 c0001 t0001 g0001 SAS BEB ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG03831 hp2 a0001 c0001 t0001 g0001 SAS BEB ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG03834 hp1 a0002 c0002 t0002 g0001 SAS BEB ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG03834 hp2 a0001 c0001 t0001 g0001 SAS BEB ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG04115 hp1 a0003 c0003 t0016 g0001 SAS STU ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG04115 hp2 a0001 c0001 t0001 g0001 SAS STU ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG04184 hp1 a0005 c0004 t0002 g0001 SAS BEB ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG04184 hp2 a0001 c0001 t0001 g0001 SAS BEB ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG04199 hp1 a0002 c0002 t0002 g0001 SAS STU ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG04199 hp2 a0007 c0008 t0003 g0001 SAS STU ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG04204 hp1 a0001 c0001 t0003 g0001 SAS STU ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG04204 hp2 a0002 c0002 t0002 g0001 SAS STU ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG04228 hp1 a0001 c0001 t0001 g0001 SAS STU ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG04228 hp2 a0001 c0001 t0001 g0001 SAS STU ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA18522 hp1 a0002 c0002 t0002 g0001 AFR YRI ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA18522 hp2 a0003 c0003 t0002 g0001 AFR YRI ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA18612 hp1 a0001 c0001 t0001 g0001 EAS CHB ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA18612 hp2 a0001 c0001 t0003 g0001 EAS CHB ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA18747 hp1 a0001 c0001 t0003 g0001 EAS CHB ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA18747 hp2 a0001 c0001 t0001 g0001 EAS CHB ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA18939 hp1 a0001 c0001 t0001 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA18939 hp2 a0001 c0001 t0003 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA18941 hp1 a0003 c0003 t0002 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA18941 hp2 a0001 c0001 t0001 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA18943 hp1 a0003 c0003 t0001 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA18943 hp2 a0001 c0001 t0001 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA18944 hp1 a0001 c0001 t0003 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA18944 hp2 a0001 c0001 t0001 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA18946 hp1 a0001 c0001 t0003 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA18946 hp2 a0001 c0001 t0001 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA18948 hp1 a0003 c0003 t0001 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA18948 hp2 a0001 c0001 t0001 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA18950 hp1 a0003 c0003 t0008 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA18950 hp2 a0001 c0001 t0001 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA18951 hp1 a0001 c0001 t0003 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA18951 hp2 a0003 c0003 t0008 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA18953 hp1 a0001 c0001 t0001 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA18953 hp2 a0003 c0003 t0002 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA18954 hp1 a0001 c0001 t0001 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA18954 hp2 a0001 c0001 t0003 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA18960 hp1 a0001 c0001 t0001 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA18960 hp2 a0001 c0001 t0003 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA18961 hp1 a0003 c0003 t0002 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA18961 hp2 a0001 c0001 t0001 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA18962 hp1 a0001 c0001 t0001 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA18962 hp2 a0003 c0003 t0008 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA18964 hp1 a0001 c0001 t0001 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA18964 hp2 a0001 c0001 t0001 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA18968 hp1 a0001 c0001 t0003 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA18968 hp2 a0001 c0001 t0001 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA18969 hp1 a0001 c0001 t0001 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA18969 hp2 a0003 c0003 t0002 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA18970 hp1 a0001 c0001 t0001 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA18970 hp2 a0001 c0001 t0003 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA18971 hp1 a0001 c0001 t0001 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA18971 hp2 a0001 c0001 t0001 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA18975 hp1 a0001 c0001 t0001 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA18975 hp2 a0002 c0002 t0003 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA18977 hp1 a0003 c0003 t0001 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA18977 hp2 a0001 c0001 t0001 g0004 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA18979 hp1 a0001 c0001 t0001 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA18979 hp2 a0001 c0001 t0001 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA18982 hp1 a0002 c0002 t0003 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA18982 hp2 a0001 c0001 t0026 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA18983 hp1 a0003 c0003 t0002 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA18983 hp2 a0001 c0001 t0003 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA18984 hp1 a0001 c0001 t0001 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA18984 hp2 a0003 c0003 t0001 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA18985 hp1 a0001 c0001 t0003 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA18985 hp2 a0001 c0001 t0001 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA18986 hp1 a0003 c0003 t0008 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA18986 hp2 a0001 c0001 t0001 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA18989 hp1 a0003 c0003 t0001 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA18989 hp2 a0001 c0001 t0001 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA18993 hp1 a0003 c0003 t0008 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA18993 hp2 a0001 c0001 t0001 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA18999 hp1 a0001 c0001 t0001 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA18999 hp2 a0001 c0001 t0001 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA19000 hp1 a0001 c0001 t0001 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA19000 hp2 a0001 c0001 t0001 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA19006 hp1 a0001 c0001 t0001 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA19006 hp2 a0003 c0003 t0002 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA19007 hp1 a0001 c0001 t0001 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA19007 hp2 a0001 c0001 t0001 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA19009 hp1 a0001 c0001 t0001 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA19009 hp2 a0001 c0001 t0001 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA19011 hp1 a0002 c0002 t0027 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA19011 hp2 a0001 c0001 t0001 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA19012 hp1 a0003 c0003 t0002 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA19012 hp2 a0001 c0001 t0001 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA19043 hp1 a0001 c0001 t0003 g0001 AFR LWK ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA19043 hp2 a0002 c0002 t0002 g0001 AFR LWK ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA19054 hp1 a0001 c0001 t0003 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA19054 hp2 a0003 c0003 t0002 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA19058 hp1 a0001 c0001 t0001 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA19058 hp2 a0003 c0003 t0001 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA19062 hp1 a0001 c0001 t0003 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA19062 hp2 a0001 c0001 t0001 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA19064 hp1 a0001 c0001 t0001 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA19064 hp2 a0001 c0001 t0001 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA19065 hp1 a0001 c0001 t0001 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA19065 hp2 a0001 c0001 t0003 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA19066 hp1 a0003 c0003 t0001 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA19066 hp2 a0001 c0001 t0003 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA19068 hp1 a0001 c0001 t0001 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA19068 hp2 a0001 c0001 t0003 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA19070 hp1 a0001 c0001 t0001 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA19070 hp2 a0001 c0001 t0025 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA19077 hp1 a0001 c0001 t0003 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA19077 hp2 a0003 c0003 t0002 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA19078 hp1 a0003 c0003 t0001 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA19078 hp2 a0001 c0001 t0001 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA19084 hp1 a0001 c0001 t0001 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA19084 hp2 a0003 c0003 t0001 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA19085 hp1 a0001 c0001 t0001 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA19085 hp2 a0003 c0003 t0002 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA19088 hp1 a0001 c0001 t0001 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA19088 hp2 a0002 c0002 t0001 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA19089 hp1 a0001 c0001 t0001 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA19089 hp2 a0001 c0001 t0003 g0001 EAS JPT ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA19240 hp1 a0002 c0005 t0005 g0001 AFR YRI ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA19240 hp2 a0002 c0002 t0002 g0001 AFR YRI ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA20129 hp1 a0001 c0006 t0009 g0001 AFR ASW ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA20129 hp2 a0001 c0001 t0001 g0001 AFR ASW ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA20805 hp1 a0001 c0001 t0010 g0001 EUR TSI ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA20805 hp2 a0001 c0001 t0010 g0001 EUR TSI ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA20905 hp1 a0001 c0001 t0001 g0001 SAS GIH ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA20905 hp2 a0012 c0019 t0001 g0001 SAS GIH ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG01123 hp1 a0002 c0009 t0006 g0001 AMR CLM ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG01123 hp2 a0002 c0002 t0002 g0001 AMR CLM ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02109 hp1 a0010 c0022 t0022 g0003 AFR ACB ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02109 hp2 a0005 c0004 t0018 g0001 AFR ACB ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02486 hp1 a0003 c0003 t0002 g0001 AFR ACB ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02486 hp2 a0001 c0001 t0001 g0002 AFR ACB ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02559 hp1 a0001 c0001 t0003 g0001 AFR ACB ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG02559 hp2 a0001 c0001 t0003 g0001 AFR ACB ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG03471 hp1 a0001 c0001 t0001 g0001 AFR MSL ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG03471 hp2 a0002 c0002 t0002 g0001 AFR MSL ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG06807 hp1 a0001 c0001 t0001 g0001 AFR USA ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
HG06807 hp2 a0001 c0001 t0007 g0001 AFR USA ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA20300 hp1 a0001 c0001 t0001 g0001 AFR USA ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA20300 hp2 a0002 c0002 t0002 g0001 AFR USA ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA21309 hp1 a0001 c0001 t0001 g0001 AFR LWK ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
NA21309 hp2 a0004 c0007 t0002 g0001 AFR LWK ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
homoSapiens_chm13v2 hp1 a0001 c0001 t0001 g0001 REF REF ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513
homoSapiens_grch38 hp1 a0001 c0001 t0010 g0001 REF REF ASCL1_chr12_102952674_102965513 ASCL1 chr12 102952674 102965513

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
chr12:102958321 C
C
 A
A
 1 a0014
a0014
 1 HG02273.hp2
HG02273.hp2
 missense_variant MODERATE c.77C>A
c.77C>A
 p.Pro26Gln
p.Pro26Gln
 ASCL1 ENSG00000139352.4 transcript ENST00000266744.4 protein_coding 1/2 648/2481 77/711 26/236 chr12 102958321
chr12:102958340 TGCCACGG
others(26): Show 
TGCCACGGCCGCAGCCGCGGCGGCCGCAGCCGCC
 T
T
 1 a0009
a0009
 1 HG03688.hp1
HG03688.hp1
 disruptive_inframe_deletion MODERATE c.99_131delCACGGCCGC
others(24): Show 
c.99_131delCACGGCCGCAGCCGCGGCGGCCGCAGCCGCCGC
 p.Thr34_Ala44del
p.Thr34_Ala44del
 ASCL1 ENSG00000139352.4 transcript ENST00000266744.4 protein_coding 1/2 670/2481 99/711 33/236 INFO_REALIGN_3_PRIME chr12 102958340
chr12:102958389 A
A
 C
C
 1 a0010
a0010
 1 HG02109.hp1
HG02109.hp1
 missense_variant MODERATE c.145A>C
c.145A>C
 p.Ser49Arg
p.Ser49Arg
 ASCL1 ENSG00000139352.4 transcript ENST00000266744.4 protein_coding 1/2 716/2481 145/711 49/236 chr12 102958389
chr12:102958393 C
C
 CGCA
CGCA
 2 a0002
a0014
a0002
a0014
 63 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(60): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00609.hp1
HG00639.hp2
HG00733.hp2
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01243.hp1
HG01255.hp2
HG01346.hp1
HG01496.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01943.hp2
HG02004.hp1
HG02080.hp2
HG02083.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp2
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03516.hp2
HG03834.hp1
HG04199.hp1
HG04204.hp2
NA18522.hp1
NA18975.hp2
NA18982.hp1
NA19011.hp1
NA19043.hp2
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
 conservative_inframe_insertion MODERATE c.184_186dupCAG
c.184_186dupCAG
 p.Gln62dup
p.Gln62dup
 ASCL1 ENSG00000139352.4 transcript ENST00000266744.4 protein_coding 1/2 758/2481 187/711 63/236 INFO_REALIGN_3_PRIME chr12 102958393
chr12:102958393 C
C
 CGCAGCA
CGCAGCA
 1 a0005
a0005
 7 HG01081.hp1
HG02109.hp2
HG02647.hp1
others(4): Show 
HG01081.hp1
HG02109.hp2
HG02647.hp1
HG02717.hp1
HG02723.hp2
HG02738.hp2
HG04184.hp1
 conservative_inframe_insertion MODERATE c.181_186dupCAGCAG
c.181_186dupCAGCAG
 p.Gln61_Gln62dup
p.Gln61_Gln62dup
 ASCL1 ENSG00000139352.4 transcript ENST00000266744.4 protein_coding 1/2 758/2481 187/711 63/236 INFO_REALIGN_3_PRIME chr12 102958393
chr12:102958393 C
C
 CGCAGCAG
others(2): Show 
CGCAGCAGCA
 1 a0003
a0003
 40 HG00558.hp1
HG00558.hp2
HG01257.hp1
others(37): Show 
HG00558.hp1
HG00558.hp2
HG01257.hp1
HG01934.hp1
HG01934.hp2
HG02015.hp2
HG02027.hp1
HG02071.hp1
HG02486.hp1
HG02818.hp2
HG02886.hp2
HG03098.hp1
HG03491.hp1
HG03579.hp2
HG04115.hp1
NA18522.hp2
NA18941.hp1
NA18943.hp1
NA18948.hp1
NA18950.hp1
NA18951.hp2
NA18953.hp2
NA18961.hp1
NA18962.hp2
NA18969.hp2
NA18977.hp1
NA18983.hp1
NA18984.hp2
NA18986.hp1
NA18989.hp1
NA18993.hp1
NA19006.hp2
NA19012.hp1
NA19054.hp2
NA19058.hp2
NA19066.hp1
NA19077.hp2
NA19078.hp1
NA19084.hp2
NA19085.hp2
 conservative_inframe_insertion MODERATE c.178_186dupCAGCAGCA
others(1): Show 
c.178_186dupCAGCAGCAG
 p.Gln60_Gln62dup
p.Gln60_Gln62dup
 ASCL1 ENSG00000139352.4 transcript ENST00000266744.4 protein_coding 1/2 758/2481 187/711 63/236 INFO_REALIGN_3_PRIME chr12 102958393
chr12:102958393 C
C
 CGCAGCAG
others(5): Show 
CGCAGCAGCAGCA
 1 a0006
a0006
 5 HG01358.hp1
HG01358.hp2
HG01952.hp1
others(2): Show 
HG01358.hp1
HG01358.hp2
HG01952.hp1
HG02818.hp1
HG03540.hp1
 conservative_inframe_insertion MODERATE c.175_186dupCAGCAGCA
others(4): Show 
c.175_186dupCAGCAGCAGCAG
 p.Gln59_Gln62dup
p.Gln59_Gln62dup
 ASCL1 ENSG00000139352.4 transcript ENST00000266744.4 protein_coding 1/2 758/2481 187/711 63/236 INFO_REALIGN_3_PRIME chr12 102958393
chr12:102958393 C
C
 CGCAGCAG
others(8): Show 
CGCAGCAGCAGCAGCA
 1 a0008
a0008
 2 HG02257.hp2
HG02280.hp1
HG02257.hp2
HG02280.hp1
 conservative_inframe_insertion MODERATE c.172_186dupCAGCAGCA
others(7): Show 
c.172_186dupCAGCAGCAGCAGCAG
 p.Gln58_Gln62dup
p.Gln58_Gln62dup
 ASCL1 ENSG00000139352.4 transcript ENST00000266744.4 protein_coding 1/2 758/2481 187/711 63/236 INFO_REALIGN_3_PRIME chr12 102958393
chr12:102958393 C
C
 CGCAGCAG
others(11): Show 
CGCAGCAGCAGCAGCAGCA
 1 a0013
a0013
 1 HG02723.hp1
HG02723.hp1
 conservative_inframe_insertion MODERATE c.169_186dupCAGCAGCA
others(10): Show 
c.169_186dupCAGCAGCAGCAGCAGCAG
 p.Gln57_Gln62dup
p.Gln57_Gln62dup
 ASCL1 ENSG00000139352.4 transcript ENST00000266744.4 protein_coding 1/2 758/2481 187/711 63/236 INFO_REALIGN_3_PRIME chr12 102958393
chr12:102958393 CGCA
CGCA
 C
C
 1 a0004
a0004
 9 HG00423.hp2
HG00741.hp1
HG01106.hp1
others(6): Show 
HG00423.hp2
HG00741.hp1
HG01106.hp1
HG02135.hp2
HG02922.hp1
HG02976.hp1
HG03209.hp1
HG03225.hp2
NA21309.hp2
 conservative_inframe_deletion MODERATE c.184_186delCAG
c.184_186delCAG
 p.Gln62del
p.Gln62del
 ASCL1 ENSG00000139352.4 transcript ENST00000266744.4 protein_coding 1/2 755/2481 184/711 62/236 INFO_REALIGN_3_PRIME chr12 102958393
chr12:102958393 CGCAGCAG
others(2): Show 
CGCAGCAGCA
 C
C
 1 a0007
a0007
 4 HG01168.hp1
HG03491.hp2
HG03492.hp1
others(1): Show 
HG01168.hp1
HG03491.hp2
HG03492.hp1
HG04199.hp2
 conservative_inframe_deletion MODERATE c.178_186delCAGCAGCA
others(1): Show 
c.178_186delCAGCAGCAG
 p.Gln60_Gln62del
p.Gln60_Gln62del
 ASCL1 ENSG00000139352.4 transcript ENST00000266744.4 protein_coding 1/2 749/2481 178/711 60/236 INFO_REALIGN_3_PRIME chr12 102958393
chr12:102958393 CGCAGCAG
others(5): Show 
CGCAGCAGCAGCA
 C
C
 1 a0011
a0011
 1 HG03704.hp1
HG03704.hp1
 conservative_inframe_deletion MODERATE c.175_186delCAGCAGCA
others(4): Show 
c.175_186delCAGCAGCAGCAG
 p.Gln59_Gln62del
p.Gln59_Gln62del
 ASCL1 ENSG00000139352.4 transcript ENST00000266744.4 protein_coding 1/2 746/2481 175/711 59/236 INFO_REALIGN_3_PRIME chr12 102958393
chr12:102958429 A
A
 T
T
 1 a0012
a0012
 1 NA20905.hp2
NA20905.hp2
 missense_variant MODERATE c.185A>T
c.185A>T
 p.Gln62Leu
p.Gln62Leu
 ASCL1 ENSG00000139352.4 transcript ENST00000266744.4 protein_coding 1/2 756/2481 185/711 62/236 chr12 102958429

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
chr12:102958367 A
A
 G
G
 1 a0002c0023
a0002c0023
 1 HG00323.hp2
HG00323.hp2
 synonymous_variant LOW c.123A>G
c.123A>G
 p.Ala41Ala
p.Ala41Ala
 ASCL1 ENSG00000139352.4 transcript ENST00000266744.4 protein_coding 1/2 694/2481 123/711 41/236 chr12 102958367
chr12:102958382 A
A
 T
T
 1 a0002c0009
a0002c0009
 4 HG01074.hp2
HG01123.hp1
HG01255.hp2
others(1): Show 
HG01074.hp2
HG01123.hp1
HG01255.hp2
HG02004.hp1
 synonymous_variant LOW c.138A>T
c.138A>T
 p.Ala46Ala
p.Ala46Ala
 ASCL1 ENSG00000139352.4 transcript ENST00000266744.4 protein_coding 1/2 709/2481 138/711 46/236 chr12 102958382
chr12:102958433 G
G
 C
C
 2 a0002c0011
a0004c0020
a0002c0011
a0004c0020
 4 HG02809.hp1
HG02976.hp2
HG03209.hp1
others(1): Show 
HG02809.hp1
HG02976.hp2
HG03209.hp1
HG03453.hp2
 synonymous_variant LOW c.189G>C
c.189G>C
 p.Ala63Ala
p.Ala63Ala
 ASCL1 ENSG00000139352.4 transcript ENST00000266744.4 protein_coding 1/2 760/2481 189/711 63/236 chr12 102958433
chr12:102958871 C
C
 G
G
 7 a0001c0006
a0002c0005
a0002c0023
others(4): Show 
a0001c0006
a0002c0005
a0002c0023
a0004c0007
a0006c0012
a0008c0018
a0013c0016
 23 HG00140.hp2
HG00323.hp2
HG00741.hp1
others(20): Show 
HG00140.hp2
HG00323.hp2
HG00741.hp1
HG01106.hp1
HG01243.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG02280.hp1
HG02572.hp2
HG02723.hp1
HG02818.hp1
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG03225.hp2
HG03486.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
NA19240.hp1
NA20129.hp1
NA21309.hp2
 synonymous_variant LOW c.627C>G
c.627C>G
 p.Val209Val
p.Val209Val
 ASCL1 ENSG00000139352.4 transcript ENST00000266744.4 protein_coding 1/2 1198/2481 627/711 209/236 chr12 102958871

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
chr12:102957677 A
A
 G
G
 1 a0002c0002t0027
a0002c0002t0027
 1 NA19011.hp1
NA19011.hp1
 5_prime_UTR_variant MODIFIER c.-568A>G
c.-568A>G
ASCL1 ENSG00000139352.4 transcript ENST00000266744.4 protein_coding 1/2 568 chr12 102957677
chr12:102957907 CT
CT
 C
C
 1 a0001c0001t0007
a0001c0001t0007
 6 HG02258.hp1
HG02895.hp2
HG02897.hp2
others(3): Show 
HG02258.hp1
HG02895.hp2
HG02897.hp2
HG03139.hp2
HG03579.hp1
HG06807.hp2
 5_prime_UTR_variant MODIFIER c.-328delT
c.-328delT
ASCL1 ENSG00000139352.4 transcript ENST00000266744.4 protein_coding 1/2 328 INFO_REALIGN_3_PRIME chr12 102957907
chr12:102958048 T
T
 C
C
 28 a0001c0001t0002
a0001c0001t0014
a0002c0002t0002
others(25): Show 
a0001c0001t0002
a0001c0001t0014
a0002c0002t0002
a0002c0002t0005
a0002c0002t0006
a0002c0002t0019
a0002c0005t0004
a0002c0005t0005
a0002c0009t0006
a0002c0011t0002
a0002c0023t0004
a0003c0003t0002
a0003c0003t0004
a0003c0003t0008
a0003c0003t0016
a0003c0003t0020
a0004c0007t0002
a0004c0007t0004
a0004c0020t0002
a0005c0004t0002
a0005c0004t0012
a0005c0004t0013
a0005c0004t0018
a0006c0012t0005
a0008c0017t0012
a0008c0018t0005
a0013c0016t0017
a0014c0014t0002
 107 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(104): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00558.hp1
HG00558.hp2
HG00639.hp2
HG00733.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01243.hp1
HG01255.hp2
HG01346.hp1
HG01496.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp2
HG01934.hp1
HG01943.hp2
HG02004.hp1
HG02015.hp2
HG02027.hp1
HG02071.hp1
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG03834.hp1
HG04115.hp1
HG04184.hp1
HG04199.hp1
HG04204.hp2
NA18522.hp1
NA18522.hp2
NA18941.hp1
NA18950.hp1
NA18951.hp2
NA18953.hp2
NA18961.hp1
NA18962.hp2
NA18969.hp2
NA18983.hp1
NA18986.hp1
NA18993.hp1
NA19006.hp2
NA19012.hp1
NA19043.hp2
NA19054.hp2
NA19077.hp2
NA19085.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA21309.hp2
 5_prime_UTR_variant MODIFIER c.-197T>C
c.-197T>C
ASCL1 ENSG00000139352.4 transcript ENST00000266744.4 protein_coding 1/2 197 chr12 102958048
chr12:102958093 A
A
 T
T
 1 a0001c0001t0026
a0001c0001t0026
 1 NA18982.hp2
NA18982.hp2
 5_prime_UTR_variant MODIFIER c.-152A>T
c.-152A>T
ASCL1 ENSG00000139352.4 transcript ENST00000266744.4 protein_coding 1/2 152 chr12 102958093
chr12:102958179 C
C
 T
T
 1 a0001c0001t0015
a0001c0001t0015
 2 HG02056.hp1
HG02129.hp2
HG02056.hp1
HG02129.hp2
 5_prime_UTR_variant MODIFIER c.-66C>T
c.-66C>T
ASCL1 ENSG00000139352.4 transcript ENST00000266744.4 protein_coding 1/2 66 chr12 102958179
chr12:102959430 GA
GA
 G
G
 52 a0001c0001t0001
a0001c0001t0002
a0001c0001t0003
others(49): Show 
a0001c0001t0001
a0001c0001t0002
a0001c0001t0003
a0001c0001t0007
a0001c0001t0009
a0001c0001t0011
a0001c0001t0014
a0001c0001t0015
a0001c0001t0021
a0001c0001t0024
a0001c0001t0025
a0001c0001t0026
a0001c0006t0003
a0001c0006t0009
a0002c0002t0001
a0002c0002t0002
a0002c0002t0003
a0002c0002t0005
a0002c0002t0006
a0002c0002t0019
a0002c0002t0027
a0002c0005t0004
a0002c0005t0005
a0002c0005t0009
a0002c0009t0006
a0002c0011t0002
a0002c0023t0004
a0003c0003t0001
a0003c0003t0002
a0003c0003t0004
a0003c0003t0020
a0004c0007t0002
a0004c0007t0004
a0004c0013t0001
a0004c0020t0002
a0005c0004t0001
a0005c0004t0002
a0005c0004t0012
a0005c0004t0013
a0005c0004t0018
a0006c0010t0001
a0006c0012t0005
a0007c0008t0003
a0007c0008t0023
a0008c0017t0012
a0008c0018t0005
a0009c0015t0001
a0010c0022t0022
a0011c0021t0001
a0012c0019t0001
a0013c0016t0017
a0014c0014t0002
 343 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(340): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.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
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.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
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18951.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19058.hp1
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19078.hp1
NA19078.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*126delA
c.*126delA
ASCL1 ENSG00000139352.4 transcript ENST00000266744.4 protein_coding 2/2 485 INFO_REALIGN_3_PRIME chr12 102959430
chr12:102959438 A
A
 G
G
 4 a0001c0001t0009
a0001c0001t0014
a0001c0006t0009
others(1): Show 
a0001c0001t0009
a0001c0001t0014
a0001c0006t0009
a0002c0005t0009
 8 HG01884.hp2
HG01891.hp2
HG02622.hp2
others(5): Show 
HG01884.hp2
HG01891.hp2
HG02622.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG03516.hp1
NA20129.hp1
 3_prime_UTR_variant MODIFIER c.*124A>G
c.*124A>G
ASCL1 ENSG00000139352.4 transcript ENST00000266744.4 protein_coding 2/2 483 chr12 102959438
chr12:102959526 C
C
 G
G
 1 a0005c0004t0013
a0005c0004t0013
 2 HG02647.hp1
HG02723.hp2
HG02647.hp1
HG02723.hp2
 3_prime_UTR_variant MODIFIER c.*212C>G
c.*212C>G
ASCL1 ENSG00000139352.4 transcript ENST00000266744.4 protein_coding 2/2 571 chr12 102959526
chr12:102959590 T
T
 A
A
 1 a0013c0016t0017
a0013c0016t0017
 1 HG02723.hp1
HG02723.hp1
 3_prime_UTR_variant MODIFIER c.*276T>A
c.*276T>A
ASCL1 ENSG00000139352.4 transcript ENST00000266744.4 protein_coding 2/2 635 chr12 102959590
chr12:102959606 G
G
 A
A
 1 a0001c0001t0021
a0001c0001t0021
 1 HG03239.hp2
HG03239.hp2
 3_prime_UTR_variant MODIFIER c.*292G>A
c.*292G>A
ASCL1 ENSG00000139352.4 transcript ENST00000266744.4 protein_coding 2/2 651 chr12 102959606
chr12:102959744 T
T
 G
G
 1 a0010c0022t0022
a0010c0022t0022
 1 HG02109.hp1
HG02109.hp1
 3_prime_UTR_variant MODIFIER c.*430T>G
c.*430T>G
ASCL1 ENSG00000139352.4 transcript ENST00000266744.4 protein_coding 2/2 789 chr12 102959744
chr12:102959747 T
T
 C
C
 53 a0001c0001t0001
a0001c0001t0002
a0001c0001t0003
others(50): Show 
a0001c0001t0001
a0001c0001t0002
a0001c0001t0003
a0001c0001t0007
a0001c0001t0009
a0001c0001t0011
a0001c0001t0014
a0001c0001t0015
a0001c0001t0021
a0001c0001t0024
a0001c0001t0025
a0001c0001t0026
a0001c0006t0003
a0001c0006t0009
a0002c0002t0001
a0002c0002t0002
a0002c0002t0003
a0002c0002t0005
a0002c0002t0006
a0002c0002t0019
a0002c0002t0027
a0002c0005t0004
a0002c0005t0005
a0002c0005t0009
a0002c0009t0006
a0002c0011t0002
a0002c0023t0004
a0003c0003t0001
a0003c0003t0002
a0003c0003t0004
a0003c0003t0016
a0003c0003t0020
a0004c0007t0002
a0004c0007t0004
a0004c0013t0001
a0004c0020t0002
a0005c0004t0001
a0005c0004t0002
a0005c0004t0012
a0005c0004t0013
a0005c0004t0018
a0006c0010t0001
a0006c0012t0005
a0007c0008t0003
a0007c0008t0023
a0008c0017t0012
a0008c0018t0005
a0009c0015t0001
a0010c0022t0022
a0011c0021t0001
a0012c0019t0001
a0013c0016t0017
a0014c0014t0002
 344 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(341): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.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
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.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
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18939.hp1
NA18939.hp2
NA18941.hp1
NA18941.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18951.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19058.hp1
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19078.hp1
NA19078.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*433T>C
c.*433T>C
ASCL1 ENSG00000139352.4 transcript ENST00000266744.4 protein_coding 2/2 792 chr12 102959747
chr12:102959760 A
A
 G
G
 40 a0001c0001t0001
a0001c0001t0002
a0001c0001t0009
others(37): Show 
a0001c0001t0001
a0001c0001t0002
a0001c0001t0009
a0001c0001t0014
a0001c0001t0015
a0001c0001t0021
a0001c0001t0024
a0001c0001t0025
a0001c0001t0026
a0001c0006t0009
a0002c0002t0001
a0002c0002t0002
a0002c0002t0005
a0002c0002t0006
a0002c0002t0027
a0002c0005t0005
a0002c0005t0009
a0002c0009t0006
a0002c0011t0002
a0003c0003t0001
a0003c0003t0002
a0003c0003t0016
a0003c0003t0020
a0004c0007t0002
a0004c0013t0001
a0004c0020t0002
a0005c0004t0001
a0005c0004t0002
a0005c0004t0012
a0005c0004t0013
a0006c0010t0001
a0006c0012t0005
a0008c0017t0012
a0008c0018t0005
a0009c0015t0001
a0010c0022t0022
a0011c0021t0001
a0012c0019t0001
a0013c0016t0017
a0014c0014t0002
 273 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(270): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp2
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18985.hp2
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp2
NA19054.hp2
NA19058.hp1
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19070.hp2
NA19077.hp2
NA19078.hp1
NA19078.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*446A>G
c.*446A>G
ASCL1 ENSG00000139352.4 transcript ENST00000266744.4 protein_coding 2/2 805 chr12 102959760
chr12:102959816 C
C
 A
A
 1 a0010c0022t0022
a0010c0022t0022
 1 HG02109.hp1
HG02109.hp1
 3_prime_UTR_variant MODIFIER c.*502C>A
c.*502C>A
ASCL1 ENSG00000139352.4 transcript ENST00000266744.4 protein_coding 2/2 861 chr12 102959816
chr12:102959817 A
A
 C
C
 1 a0010c0022t0022
a0010c0022t0022
 1 HG02109.hp1
HG02109.hp1
 3_prime_UTR_variant MODIFIER c.*503A>C
c.*503A>C
ASCL1 ENSG00000139352.4 transcript ENST00000266744.4 protein_coding 2/2 862 chr12 102959817
chr12:102959837 T
T
 C
C
 1 a0001c0001t0024
a0001c0001t0024
 1 HG01081.hp2
HG01081.hp2
 3_prime_UTR_variant MODIFIER c.*523T>C
c.*523T>C
ASCL1 ENSG00000139352.4 transcript ENST00000266744.4 protein_coding 2/2 882 chr12 102959837
chr12:102959929 C
C
 T
T
 3 a0005c0004t0012
a0005c0004t0013
a0008c0017t0012
a0005c0004t0012
a0005c0004t0013
a0008c0017t0012
 4 HG01081.hp1
HG02257.hp2
HG02647.hp1
others(1): Show 
HG01081.hp1
HG02257.hp2
HG02647.hp1
HG02723.hp2
 3_prime_UTR_variant MODIFIER c.*615C>T
c.*615C>T
ASCL1 ENSG00000139352.4 transcript ENST00000266744.4 protein_coding 2/2 974 chr12 102959929
chr12:102960054 GAGAA
GAGAA
 G
G
 2 a0002c0002t0006
a0002c0009t0006
a0002c0002t0006
a0002c0009t0006
 8 HG00140.hp1
HG01074.hp2
HG01123.hp1
others(5): Show 
HG00140.hp1
HG01074.hp2
HG01123.hp1
HG01255.hp2
HG01346.hp1
HG01943.hp2
HG02004.hp1
HG02145.hp1
 3_prime_UTR_variant MODIFIER c.*744_*747delAAGA
c.*744_*747delAAGA
ASCL1 ENSG00000139352.4 transcript ENST00000266744.4 protein_coding 2/2 1103 INFO_REALIGN_3_PRIME chr12 102960054
chr12:102960058 AAGAG
AAGAG
 A
A
 6 a0002c0002t0005
a0002c0005t0005
a0005c0004t0018
others(3): Show 
a0002c0002t0005
a0002c0005t0005
a0005c0004t0018
a0006c0012t0005
a0008c0018t0005
a0013c0016t0017
 10 HG01109.hp2
HG01243.hp1
HG02109.hp2
others(7): Show 
HG01109.hp2
HG01243.hp1
HG02109.hp2
HG02280.hp1
HG02723.hp1
HG02818.hp1
HG03098.hp2
HG03516.hp2
HG03540.hp1
NA19240.hp1
 3_prime_UTR_variant MODIFIER c.*750_*753delGAGA
c.*750_*753delGAGA
ASCL1 ENSG00000139352.4 transcript ENST00000266744.4 protein_coding 2/2 1109 INFO_REALIGN_3_PRIME chr12 102960058
chr12:102960127 T
T
 C
C
 1 a0003c0003t0020
a0003c0003t0020
 1 HG00558.hp1
HG00558.hp1
 3_prime_UTR_variant MODIFIER c.*813T>C
c.*813T>C
ASCL1 ENSG00000139352.4 transcript ENST00000266744.4 protein_coding 2/2 1172 chr12 102960127
chr12:102960408 CT
CT
 C
C
 45 a0001c0001t0001
a0001c0001t0002
a0001c0001t0009
others(42): Show 
a0001c0001t0001
a0001c0001t0002
a0001c0001t0009
a0001c0001t0011
a0001c0001t0014
a0001c0001t0015
a0001c0001t0021
a0001c0001t0024
a0001c0001t0026
a0001c0006t0009
a0002c0002t0001
a0002c0002t0002
a0002c0002t0005
a0002c0002t0006
a0002c0002t0027
a0002c0005t0004
a0002c0005t0005
a0002c0005t0009
a0002c0009t0006
a0002c0011t0002
a0002c0023t0004
a0003c0003t0001
a0003c0003t0002
a0003c0003t0004
a0003c0003t0016
a0003c0003t0020
a0004c0007t0002
a0004c0007t0004
a0004c0013t0001
a0004c0020t0002
a0005c0004t0001
a0005c0004t0002
a0005c0004t0012
a0005c0004t0013
a0005c0004t0018
a0006c0010t0001
a0006c0012t0005
a0008c0017t0012
a0008c0018t0005
a0009c0015t0001
a0010c0022t0022
a0011c0021t0001
a0012c0019t0001
a0013c0016t0017
a0014c0014t0002
 286 HG00099.hp2
HG00140.hp1
HG00140.hp2
others(283): Show 
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01516.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp2
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp2
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18985.hp2
NA18986.hp2
NA18989.hp1
NA18989.hp2
NA18993.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19006.hp1
NA19006.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19043.hp2
NA19054.hp2
NA19058.hp1
NA19058.hp2
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19077.hp2
NA19078.hp1
NA19078.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*1103delT
c.*1103delT
ASCL1 ENSG00000139352.4 transcript ENST00000266744.4 protein_coding 2/2 1462 INFO_REALIGN_3_PRIME chr12 102960408
chr12:102960480 G
G
 A
A
 1 a0007c0008t0023
a0007c0008t0023
 1 HG01168.hp1
HG01168.hp1
 3_prime_UTR_variant MODIFIER c.*1166G>A
c.*1166G>A
ASCL1 ENSG00000139352.4 transcript ENST00000266744.4 protein_coding 2/2 1525 chr12 102960480

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
chr12:102959016 T
T
 G
G
 1 a0010c0022t0022g0003
a0010c0022t0022g0003
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.*47+14T>G
c.*47+14T>G
ASCL1 ENSG00000139352.4 transcript ENST00000266744.4 protein_coding 1/1 chr12 102959016
chr12:102959305 C
C
 T
T
 1 a0001c0001t0001g0002
a0001c0001t0001g0002
 2 HG02486.hp2
HG03130.hp2
HG02486.hp2
HG03130.hp2
 intron_variant MODIFIER c.*48-57C>T
c.*48-57C>T
ASCL1 ENSG00000139352.4 transcript ENST00000266744.4 protein_coding 1/1 chr12 102959305
chr12:102959347 T
T
 C
C
 1 a0001c0001t0001g0004
a0001c0001t0001g0004
 1 NA18977.hp2
NA18977.hp2
 intron_variant MODIFIER c.*48-15T>C
c.*48-15T>C
ASCL1 ENSG00000139352.4 transcript ENST00000266744.4 protein_coding 1/1 chr12 102959347

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

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

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

IGV Connection Help

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

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

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

For more details, please refer to Information → FAQ.