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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

  Error connecting to IGV?   TPSAB1_chr16_1235705_1247554  TPSAB1_chr16_1235705_1247554 (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 7177
ensemblid ENSG00000172236.19
hgncid 12019
symbol TPSAB1
name tryptase alpha/beta 1
refseq_nuc NM_003294.4
refseq_prot NP_003285.2
ensembl_nuc ENST00000338844.8
ensembl_prot ENSP00000343577.3
mane_status MANE Select
chr chr16
start 1240705
end 1242554
strand +
ver v1.2
region chr16:1240705-1242554
region5000 chr16:1235705-1247554
regionname0 TPSAB1_chr16_1240705_1242554
regionname5000 TPSAB1_chr16_1235705_1247554

ahapid grch38/
chm13v2 		alen total AFR AMR EAS EUR SAS JPT regionname genename aa chr start end
a0000 0/0 0 16 1 0 15 0 0 12 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0001 0/0 275 109 18 11 64 5 11 55 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0002 1/1 275 107 42 33 18 3 9 14 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0003 0/0 275 13 1 1 11 0 0 8 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0004 0/0 275 12 0 7 0 3 2 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0005 0/0 275 7 0 0 7 0 0 7 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0006 0/0 275 5 0 4 0 1 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0007 0/0 275 5 0 2 2 0 1 2 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0008 0/0 275 4 4 0 0 0 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0009 0/0 275 2 0 0 2 0 0 2 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0010 0/0 275 2 2 0 0 0 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0011 0/0 275 1 0 0 0 0 1 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0012 0/0 275 1 0 0 1 0 0 1 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0013 0/0 275 1 0 0 1 0 0 1 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0014 0/0 275 1 1 0 0 0 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0015 0/0 275 1 0 0 1 0 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0016 0/0 275 1 1 0 0 0 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0017 0/0 275 1 0 1 0 0 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0018 0/0 275 1 0 1 0 0 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554

chapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
c0000 0/0 0 16 1 0 15 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
c0001 0/0 828 109 18 11 64 5 11 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
c0002 1/1 828 100 36 33 18 2 9 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
c0003 0/0 828 12 1 1 10 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
c0004 0/0 828 11 0 7 0 3 1 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
c0005 0/0 828 7 0 0 7 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
c0006 0/0 828 5 0 4 0 1 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
c0007 0/0 828 4 4 0 0 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
c0008 0/0 828 4 4 0 0 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
c0009 0/0 828 4 0 2 1 0 1 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
c0010 0/0 828 2 0 0 2 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
c0011 0/0 828 2 2 0 0 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
c0012 0/0 828 2 2 0 0 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
c0013 0/0 828 1 0 0 0 1 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
c0014 0/0 828 1 1 0 0 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
c0015 0/0 828 1 1 0 0 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
c0016 0/0 828 1 0 0 1 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
c0017 0/0 828 1 0 0 1 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
c0018 0/0 828 1 0 0 1 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
c0019 0/0 828 1 0 0 1 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
c0020 0/0 828 1 0 0 0 0 1 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
c0021 0/0 828 1 0 0 1 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
c0022 0/0 828 1 0 1 0 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
c0023 0/0 828 1 0 1 0 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
c0024 0/0 828 1 0 0 0 0 1 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554

thapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
t0000 0/0 0 16 1 0 15 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
t0001 0/0 339 136 22 14 82 5 13 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
t0002 0/0 339 87 40 23 20 1 3 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
t0003 1/1 339 34 4 14 5 3 6 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
t0004 0/0 339 13 0 9 0 2 2 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
t0005 0/0 339 2 2 0 0 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
t0006 0/0 339 1 0 0 0 1 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
t0007 0/0 339 1 1 0 0 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554

ghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
g0000 0/0 16 1 0 15 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
g0001 0/0 98 19 11 52 5 11 TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
g0002 0/0 62 21 19 18 1 3 TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
g0003 1/1 32 5 13 5 2 5 TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
g0004 0/0 30 1 12 12 2 3 TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
g0005 0/0 13 11 2 0 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
g0006 0/0 11 0 0 11 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
g0007 0/0 4 4 0 0 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
g0008 0/0 3 3 0 0 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
g0009 0/0 2 0 2 0 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
g0010 0/0 2 0 0 2 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
g0011 0/0 2 2 0 0 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
g0012 0/0 2 0 0 1 0 1 TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
g0013 0/0 2 1 0 1 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
g0014 0/0 2 0 0 2 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
g0015 0/0 2 0 0 2 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
g0016 0/0 1 1 0 0 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
g0017 0/0 1 0 0 0 0 1 TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
g0018 0/0 1 0 1 0 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
g0019 0/0 1 0 0 0 1 0 TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
g0020 0/0 1 0 0 0 1 0 TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
g0021 0/0 1 0 0 1 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
g0022 0/0 1 1 0 0 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554

achapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
a0000c0000 0/0 0 16 1 0 15 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0001c0001 0/0 828 109 18 11 64 5 11 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0002c0002 1/1 828 100 36 33 18 2 9 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0002c0007 0/0 828 4 4 0 0 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0002c0011 0/0 828 2 2 0 0 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0002c0013 0/0 828 1 0 0 0 1 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0003c0003 0/0 828 12 1 1 10 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0003c0016 0/0 828 1 0 0 1 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0004c0004 0/0 828 11 0 7 0 3 1 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0004c0024 0/0 828 1 0 0 0 0 1 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0005c0005 0/0 828 7 0 0 7 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0006c0006 0/0 828 5 0 4 0 1 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0007c0009 0/0 828 4 0 2 1 0 1 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0007c0021 0/0 828 1 0 0 1 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0008c0008 0/0 828 4 4 0 0 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0009c0010 0/0 828 2 0 0 2 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0010c0012 0/0 828 2 2 0 0 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0011c0020 0/0 828 1 0 0 0 0 1 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0012c0019 0/0 828 1 0 0 1 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0013c0018 0/0 828 1 0 0 1 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0014c0015 0/0 828 1 1 0 0 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0015c0017 0/0 828 1 0 0 1 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0016c0014 0/0 828 1 1 0 0 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0017c0022 0/0 828 1 0 1 0 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0018c0023 0/0 828 1 0 1 0 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554

acthapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
a0000c0000t0000 0/0 0 16 1 0 15 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0001c0001t0001 0/0 1166 107 16 11 64 5 11 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0001c0001t0005 0/0 1166 2 2 0 0 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0002c0002t0002 0/0 1166 67 32 19 13 0 3 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0002c0002t0003 1/1 1166 33 4 14 5 2 6 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0002c0007t0002 0/0 1166 4 4 0 0 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0002c0011t0002 0/0 1166 2 2 0 0 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0002c0013t0003 0/0 1166 1 0 0 0 1 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0003c0003t0001 0/0 1166 12 1 1 10 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0003c0016t0001 0/0 1166 1 0 0 1 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0004c0004t0004 0/0 1166 10 0 7 0 2 1 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0004c0004t0006 0/0 1166 1 0 0 0 1 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0004c0024t0004 0/0 1166 1 0 0 0 0 1 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0005c0005t0002 0/0 1166 7 0 0 7 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0006c0006t0002 0/0 1166 5 0 4 0 1 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0007c0009t0001 0/0 1166 4 0 2 1 0 1 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0007c0021t0001 0/0 1166 1 0 0 1 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0008c0008t0001 0/0 1166 4 4 0 0 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0009c0010t0001 0/0 1166 2 0 0 2 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0010c0012t0002 0/0 1166 2 2 0 0 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0011c0020t0001 0/0 1166 1 0 0 0 0 1 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0012c0019t0001 0/0 1166 1 0 0 1 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0013c0018t0001 0/0 1166 1 0 0 1 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0014c0015t0007 0/0 1166 1 1 0 0 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0015c0017t0001 0/0 1166 1 0 0 1 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0016c0014t0001 0/0 1166 1 1 0 0 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0017c0022t0004 0/0 1166 1 0 1 0 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554
a0018c0023t0004 0/0 1166 1 0 1 0 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 copy fasta chr16 1235705 1247554

actghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
a0000c0000t0000g0000 0/0 16 1 0 15 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
a0001c0001t0001g0001 0/0 92 16 11 50 5 10 TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
a0001c0001t0001g0006 0/0 10 0 0 10 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
a0001c0001t0001g0012 0/0 2 0 0 1 0 1 TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
a0001c0001t0001g0015 0/0 2 0 0 2 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
a0001c0001t0001g0021 0/0 1 0 0 1 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
a0001c0001t0005g0001 0/0 2 2 0 0 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
a0002c0002t0002g0002 0/0 49 20 15 11 0 3 TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
a0002c0002t0002g0003 0/0 1 1 0 0 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
a0002c0002t0002g0005 0/0 9 7 2 0 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
a0002c0002t0002g0007 0/0 4 4 0 0 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
a0002c0002t0002g0009 0/0 2 0 2 0 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
a0002c0002t0002g0010 0/0 2 0 0 2 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
a0002c0002t0003g0003 1/1 30 4 13 5 1 5 TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
a0002c0002t0003g0017 0/0 1 0 0 0 0 1 TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
a0002c0002t0003g0018 0/0 1 0 1 0 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
a0002c0002t0003g0020 0/0 1 0 0 0 1 0 TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
a0002c0007t0002g0005 0/0 4 4 0 0 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
a0002c0011t0002g0002 0/0 1 1 0 0 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
a0002c0011t0002g0016 0/0 1 1 0 0 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
a0002c0013t0003g0003 0/0 1 0 0 0 1 0 TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
a0003c0003t0001g0004 0/0 12 1 1 10 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
a0003c0016t0001g0004 0/0 1 0 0 1 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
a0004c0004t0004g0004 0/0 10 0 7 0 2 1 TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
a0004c0004t0006g0019 0/0 1 0 0 0 1 0 TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
a0004c0024t0004g0004 0/0 1 0 0 0 0 1 TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
a0005c0005t0002g0002 0/0 7 0 0 7 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
a0006c0006t0002g0002 0/0 5 0 4 0 1 0 TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
a0007c0009t0001g0004 0/0 4 0 2 1 0 1 TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
a0007c0021t0001g0013 0/0 1 0 0 1 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
a0008c0008t0001g0001 0/0 1 1 0 0 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
a0008c0008t0001g0008 0/0 3 3 0 0 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
a0009c0010t0001g0014 0/0 2 0 0 2 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
a0010c0012t0002g0011 0/0 2 2 0 0 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
a0011c0020t0001g0001 0/0 1 0 0 0 0 1 TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
a0012c0019t0001g0006 0/0 1 0 0 1 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
a0013c0018t0001g0001 0/0 1 0 0 1 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
a0014c0015t0007g0013 0/0 1 1 0 0 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
a0015c0017t0001g0001 0/0 1 0 0 1 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
a0016c0014t0001g0022 0/0 1 1 0 0 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
a0017c0022t0004g0004 0/0 1 0 1 0 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
a0018c0023t0004g0004 0/0 1 0 1 0 0 0 TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554

sampleid ID
haplotypeid
 ahapid chapid thapid ghapid gpopname popname regionname genename chr start end
HG00099 hp1 a0002 c0002 t0003 g0020 EUR GBR TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG00099 hp2 a0002 c0002 t0003 g0003 EUR GBR TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG00280 hp1 a0004 c0004 t0006 g0019 EUR FIN TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG00280 hp2 a0001 c0001 t0001 g0001 EUR FIN TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG00323 hp1 a0001 c0001 t0001 g0001 EUR FIN TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG00323 hp2 a0002 c0013 t0003 g0003 EUR FIN TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG00423 hp1 a0002 c0002 t0002 g0010 EAS CHS TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG00423 hp2 a0001 c0001 t0001 g0001 EAS CHS TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG00544 hp1 a0001 c0001 t0001 g0001 EAS CHS TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG00544 hp2 a0000 c0000 t0000 g0000 EAS CHS TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG00642 hp1 a0002 c0002 t0003 g0003 AMR PUR TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG00642 hp2 a0001 c0001 t0001 g0001 AMR PUR TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG00733 hp1 a0017 c0022 t0004 g0004 AMR PUR TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG00733 hp2 a0002 c0002 t0002 g0002 AMR PUR TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG00735 hp1 a0002 c0002 t0003 g0018 AMR PUR TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG00735 hp2 a0002 c0002 t0002 g0009 AMR PUR TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG00738 hp1 a0004 c0004 t0004 g0004 AMR PUR TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG00738 hp2 a0002 c0002 t0003 g0003 AMR PUR TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG01069 hp1 a0002 c0002 t0002 g0005 AMR PUR TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG01069 hp2 a0002 c0002 t0003 g0003 AMR PUR TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG01070 hp1 a0001 c0001 t0001 g0001 AMR PUR TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG01070 hp2 a0002 c0002 t0002 g0002 AMR PUR TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG01071 hp1 a0002 c0002 t0002 g0005 AMR PUR TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG01071 hp2 a0002 c0002 t0002 g0002 AMR PUR TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG01074 hp1 a0002 c0002 t0003 g0003 AMR PUR TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG01074 hp2 a0004 c0004 t0004 g0004 AMR PUR TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG01099 hp1 a0018 c0023 t0004 g0004 AMR PUR TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG01099 hp2 a0001 c0001 t0001 g0001 AMR PUR TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG01106 hp1 a0002 c0002 t0002 g0002 AMR PUR TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG01106 hp2 a0006 c0006 t0002 g0002 AMR PUR TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG01109 hp1 a0006 c0006 t0002 g0002 AMR PUR TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG01109 hp2 a0001 c0001 t0001 g0001 AMR PUR TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG01167 hp1 a0002 c0002 t0002 g0009 AMR PUR TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG01167 hp2 a0007 c0009 t0001 g0004 AMR PUR TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG01168 hp1 a0004 c0004 t0004 g0004 AMR PUR TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG01168 hp2 a0002 c0002 t0002 g0002 AMR PUR TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG01169 hp1 a0004 c0004 t0004 g0004 AMR PUR TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG01169 hp2 a0007 c0009 t0001 g0004 AMR PUR TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG01175 hp1 a0006 c0006 t0002 g0002 AMR PUR TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG01175 hp2 a0001 c0001 t0001 g0001 AMR PUR TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG01192 hp1 a0002 c0002 t0003 g0003 AMR PUR TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG01192 hp2 a0002 c0002 t0003 g0003 AMR PUR TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG01255 hp1 a0002 c0002 t0002 g0002 AMR CLM TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG01255 hp2 a0001 c0001 t0001 g0001 AMR CLM TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG01256 hp1 a0004 c0004 t0004 g0004 AMR CLM TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG01256 hp2 a0001 c0001 t0001 g0001 AMR CLM TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG01257 hp1 a0002 c0002 t0003 g0003 AMR CLM TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG01257 hp2 a0001 c0001 t0001 g0001 AMR CLM TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG01258 hp1 a0004 c0004 t0004 g0004 AMR CLM TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG01258 hp2 a0002 c0002 t0003 g0003 AMR CLM TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG01261 hp1 a0004 c0004 t0004 g0004 AMR CLM TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG01261 hp2 a0003 c0003 t0001 g0004 AMR CLM TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG01346 hp1 a0002 c0002 t0002 g0002 AMR CLM TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG01346 hp2 a0002 c0002 t0003 g0003 AMR CLM TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG01433 hp1 a0002 c0002 t0002 g0002 AMR CLM TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG01433 hp2 a0002 c0002 t0003 g0003 AMR CLM TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG01517 hp1 a0001 c0001 t0001 g0001 EUR IBS TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG01517 hp2 a0004 c0004 t0004 g0004 EUR IBS TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG01884 hp1 a0001 c0001 t0001 g0001 AFR ACB TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG01884 hp2 a0002 c0002 t0002 g0007 AFR ACB TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG01891 hp1 a0002 c0002 t0002 g0005 AFR ACB TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG01891 hp2 a0001 c0001 t0001 g0001 AFR ACB TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG01934 hp1 a0002 c0002 t0003 g0003 AMR PEL TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG01934 hp2 a0001 c0001 t0001 g0001 AMR PEL TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG01943 hp1 a0002 c0002 t0002 g0002 AMR PEL TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG01943 hp2 a0002 c0002 t0003 g0003 AMR PEL TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG01975 hp1 a0002 c0002 t0002 g0002 AMR PEL TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG01975 hp2 a0001 c0001 t0001 g0001 AMR PEL TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG01993 hp1 a0002 c0002 t0002 g0002 AMR PEL TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG01993 hp2 a0002 c0002 t0002 g0002 AMR PEL TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG02027 hp1 a0003 c0003 t0001 g0004 EAS KHV TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG02027 hp2 a0001 c0001 t0001 g0001 EAS KHV TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG02056 hp1 a0001 c0001 t0001 g0006 EAS KHV TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG02056 hp2 a0002 c0002 t0002 g0010 EAS KHV TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG02074 hp1 a0003 c0003 t0001 g0004 EAS KHV TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG02074 hp2 a0003 c0016 t0001 g0004 EAS KHV TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG02083 hp1 a0001 c0001 t0001 g0001 EAS KHV TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG02083 hp2 a0002 c0002 t0003 g0003 EAS KHV TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG02129 hp1 a0001 c0001 t0001 g0001 EAS KHV TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG02129 hp2 a0002 c0002 t0003 g0003 EAS KHV TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG02135 hp1 a0015 c0017 t0001 g0001 EAS KHV TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG02135 hp2 a0000 c0000 t0000 g0000 EAS KHV TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG02145 hp1 a0002 c0002 t0002 g0002 AFR ACB TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG02145 hp2 a0001 c0001 t0001 g0001 AFR ACB TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG02155 hp1 a0001 c0001 t0001 g0001 EAS CDX TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG02155 hp2 a0000 c0000 t0000 g0000 EAS CDX TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG02257 hp1 a0001 c0001 t0001 g0001 AFR ACB TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG02257 hp2 a0002 c0002 t0002 g0002 AFR ACB TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG02258 hp1 a0001 c0001 t0005 g0001 AFR ACB TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG02258 hp2 a0002 c0002 t0003 g0003 AFR ACB TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG02293 hp1 a0002 c0002 t0003 g0003 AMR PEL TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG02293 hp2 a0002 c0002 t0002 g0002 AMR PEL TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG02300 hp1 a0001 c0001 t0001 g0001 AMR PEL TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG02300 hp2 a0002 c0002 t0002 g0002 AMR PEL TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG02451 hp1 a0014 c0015 t0007 g0013 AFR ACB TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG02451 hp2 a0002 c0002 t0002 g0005 AFR ACB TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG02615 hp1 a0001 c0001 t0001 g0001 AFR GWD TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG02615 hp2 a0002 c0007 t0002 g0005 AFR GWD TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG02630 hp1 a0001 c0001 t0001 g0001 AFR GWD TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG02630 hp2 a0002 c0002 t0003 g0003 AFR GWD TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG02647 hp1 a0002 c0002 t0002 g0002 AFR GWD TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG02647 hp2 a0002 c0002 t0002 g0002 AFR GWD TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG02717 hp1 a0008 c0008 t0001 g0001 AFR GWD TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG02717 hp2 a0001 c0001 t0001 g0001 AFR GWD TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG02723 hp1 a0002 c0002 t0003 g0003 AFR GWD TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG02723 hp2 a0001 c0001 t0001 g0001 AFR GWD TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG02738 hp1 a0001 c0001 t0001 g0001 SAS PJL TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG02738 hp2 a0002 c0002 t0002 g0002 SAS PJL TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG02809 hp1 a0002 c0002 t0002 g0002 AFR GWD TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG02809 hp2 a0001 c0001 t0005 g0001 AFR GWD TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG02818 hp1 a0002 c0002 t0002 g0005 AFR GWD TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG02818 hp2 a0002 c0002 t0002 g0002 AFR GWD TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG02886 hp1 a0001 c0001 t0001 g0001 AFR GWD TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG02886 hp2 a0002 c0002 t0002 g0002 AFR GWD TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG02895 hp1 a0002 c0002 t0002 g0002 AFR GWD TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG02895 hp2 a0002 c0002 t0002 g0002 AFR GWD TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG02896 hp1 a0002 c0002 t0002 g0005 AFR GWD TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG02896 hp2 a0002 c0002 t0002 g0002 AFR GWD TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG02897 hp1 a0002 c0002 t0002 g0002 AFR GWD TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG02897 hp2 a0002 c0002 t0002 g0002 AFR GWD TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG02970 hp1 a0002 c0002 t0002 g0003 AFR ESN TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG02970 hp2 a0001 c0001 t0001 g0001 AFR ESN TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG02976 hp1 a0002 c0002 t0002 g0002 AFR ESN TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG02976 hp2 a0002 c0002 t0003 g0003 AFR ESN TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG03098 hp1 a0001 c0001 t0001 g0001 AFR MSL TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG03098 hp2 a0001 c0001 t0001 g0001 AFR MSL TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG03139 hp1 a0001 c0001 t0001 g0001 AFR ESN TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG03139 hp2 a0002 c0011 t0002 g0002 AFR ESN TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG03195 hp1 a0002 c0002 t0002 g0007 AFR ESN TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG03195 hp2 a0003 c0003 t0001 g0004 AFR ESN TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG03209 hp1 a0002 c0002 t0002 g0005 AFR MSL TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG03209 hp2 a0008 c0008 t0001 g0008 AFR MSL TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG03225 hp1 a0001 c0001 t0001 g0001 AFR MSL TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG03225 hp2 a0008 c0008 t0001 g0008 AFR MSL TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG03239 hp1 a0004 c0024 t0004 g0004 SAS PJL TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG03239 hp2 a0002 c0002 t0003 g0003 SAS PJL TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG03453 hp1 a0002 c0002 t0002 g0002 AFR MSL TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG03453 hp2 a0002 c0007 t0002 g0005 AFR MSL TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG03486 hp1 a0002 c0002 t0002 g0002 AFR MSL TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG03486 hp2 a0001 c0001 t0001 g0001 AFR MSL TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG03490 hp1 a0001 c0001 t0001 g0001 SAS PJL TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG03490 hp2 a0002 c0002 t0003 g0003 SAS PJL TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG03492 hp1 a0002 c0002 t0003 g0003 SAS PJL TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG03492 hp2 a0007 c0009 t0001 g0004 SAS PJL TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG03516 hp1 a0002 c0002 t0002 g0002 AFR ESN TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG03516 hp2 a0010 c0012 t0002 g0011 AFR ESN TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG03540 hp1 a0002 c0002 t0002 g0005 AFR GWD TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG03540 hp2 a0002 c0002 t0002 g0002 AFR GWD TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG03654 hp1 a0001 c0001 t0001 g0001 SAS PJL TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG03654 hp2 a0011 c0020 t0001 g0001 SAS PJL TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG03669 hp1 a0001 c0001 t0001 g0001 SAS PJL TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG03669 hp2 a0001 c0001 t0001 g0001 SAS PJL TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG03688 hp1 a0002 c0002 t0003 g0003 SAS STU TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG03688 hp2 a0001 c0001 t0001 g0001 SAS STU TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG03704 hp1 a0001 c0001 t0001 g0001 SAS PJL TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG03704 hp2 a0001 c0001 t0001 g0001 SAS PJL TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG03834 hp1 a0001 c0001 t0001 g0001 SAS BEB TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG03834 hp2 a0001 c0001 t0001 g0001 SAS BEB TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG03927 hp1 a0001 c0001 t0001 g0012 SAS BEB TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG03927 hp2 a0002 c0002 t0003 g0017 SAS BEB TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG03942 hp1 a0002 c0002 t0003 g0003 SAS BEB TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG03942 hp2 a0002 c0002 t0002 g0002 SAS BEB TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG04228 hp1 a0004 c0004 t0004 g0004 SAS STU TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG04228 hp2 a0002 c0002 t0002 g0002 SAS STU TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA18612 hp1 a0001 c0001 t0001 g0001 EAS CHB TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA18612 hp2 a0001 c0001 t0001 g0001 EAS CHB TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA18943 hp1 a0005 c0005 t0002 g0002 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA18943 hp2 a0003 c0003 t0001 g0004 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA18944 hp1 a0002 c0002 t0002 g0002 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA18944 hp2 a0001 c0001 t0001 g0001 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA18945 hp1 a0001 c0001 t0001 g0006 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA18945 hp2 a0001 c0001 t0001 g0006 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA18947 hp1 a0001 c0001 t0001 g0001 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA18947 hp2 a0001 c0001 t0001 g0001 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA18949 hp1 a0003 c0003 t0001 g0004 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA18949 hp2 a0003 c0003 t0001 g0004 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA18950 hp1 a0001 c0001 t0001 g0001 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA18950 hp2 a0009 c0010 t0001 g0014 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA18951 hp1 a0001 c0001 t0001 g0001 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA18951 hp2 a0002 c0002 t0002 g0002 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA18952 hp1 a0001 c0001 t0001 g0015 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA18952 hp2 a0000 c0000 t0000 g0000 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA18953 hp1 a0005 c0005 t0002 g0002 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA18953 hp2 a0001 c0001 t0001 g0001 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA18957 hp1 a0000 c0000 t0000 g0000 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA18957 hp2 a0001 c0001 t0001 g0015 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA18959 hp1 a0001 c0001 t0001 g0001 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA18959 hp2 a0002 c0002 t0002 g0002 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA18960 hp1 a0001 c0001 t0001 g0001 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA18960 hp2 a0002 c0002 t0002 g0002 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA18961 hp1 a0000 c0000 t0000 g0000 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA18961 hp2 a0001 c0001 t0001 g0001 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA18962 hp1 a0005 c0005 t0002 g0002 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA18962 hp2 a0007 c0009 t0001 g0004 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA18963 hp1 a0001 c0001 t0001 g0001 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA18963 hp2 a0002 c0002 t0002 g0002 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA18967 hp1 a0001 c0001 t0001 g0006 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA18967 hp2 a0001 c0001 t0001 g0001 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA18970 hp1 a0001 c0001 t0001 g0001 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA18970 hp2 a0003 c0003 t0001 g0004 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA18971 hp1 a0001 c0001 t0001 g0001 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA18971 hp2 a0000 c0000 t0000 g0000 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA18972 hp1 a0000 c0000 t0000 g0000 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA18972 hp2 a0001 c0001 t0001 g0001 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA18974 hp1 a0001 c0001 t0001 g0001 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA18974 hp2 a0001 c0001 t0001 g0001 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA18977 hp1 a0002 c0002 t0002 g0002 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA18977 hp2 a0001 c0001 t0001 g0001 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA18981 hp1 a0000 c0000 t0000 g0000 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA18981 hp2 a0001 c0001 t0001 g0001 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA18982 hp1 a0003 c0003 t0001 g0004 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA18982 hp2 a0001 c0001 t0001 g0001 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA18985 hp1 a0002 c0002 t0002 g0002 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA18985 hp2 a0001 c0001 t0001 g0001 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA18986 hp1 a0001 c0001 t0001 g0006 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA18986 hp2 a0002 c0002 t0002 g0002 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA18989 hp1 a0002 c0002 t0003 g0003 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA18989 hp2 a0001 c0001 t0001 g0001 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA18990 hp1 a0001 c0001 t0001 g0001 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA18990 hp2 a0001 c0001 t0001 g0001 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA18991 hp1 a0012 c0019 t0001 g0006 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA18991 hp2 a0000 c0000 t0000 g0000 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA18995 hp1 a0001 c0001 t0001 g0001 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA18995 hp2 a0002 c0002 t0002 g0002 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA18997 hp1 a0005 c0005 t0002 g0002 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA18997 hp2 a0001 c0001 t0001 g0001 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA18998 hp1 a0001 c0001 t0001 g0001 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA18998 hp2 a0003 c0003 t0001 g0004 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA18999 hp1 a0002 c0002 t0003 g0003 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA18999 hp2 a0001 c0001 t0001 g0006 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA19004 hp1 a0003 c0003 t0001 g0004 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA19004 hp2 a0001 c0001 t0001 g0012 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA19005 hp1 a0001 c0001 t0001 g0001 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA19005 hp2 a0001 c0001 t0001 g0006 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA19009 hp1 a0002 c0002 t0002 g0002 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA19009 hp2 a0002 c0002 t0003 g0003 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA19011 hp1 a0003 c0003 t0001 g0004 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA19011 hp2 a0000 c0000 t0000 g0000 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA19012 hp1 a0002 c0002 t0002 g0002 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA19012 hp2 a0001 c0001 t0001 g0001 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA19030 hp1 a0002 c0007 t0002 g0005 AFR LWK TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA19030 hp2 a0002 c0002 t0002 g0002 AFR LWK TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA19057 hp1 a0001 c0001 t0001 g0001 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA19057 hp2 a0005 c0005 t0002 g0002 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA19064 hp1 a0001 c0001 t0001 g0001 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA19064 hp2 a0001 c0001 t0001 g0001 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA19066 hp1 a0005 c0005 t0002 g0002 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA19066 hp2 a0001 c0001 t0001 g0001 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA19070 hp1 a0001 c0001 t0001 g0006 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA19070 hp2 a0001 c0001 t0001 g0001 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA19080 hp1 a0009 c0010 t0001 g0014 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA19080 hp2 a0000 c0000 t0000 g0000 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA19081 hp1 a0005 c0005 t0002 g0002 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA19081 hp2 a0000 c0000 t0000 g0000 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA19082 hp1 a0001 c0001 t0001 g0001 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA19082 hp2 a0001 c0001 t0001 g0001 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA19083 hp1 a0001 c0001 t0001 g0001 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA19083 hp2 a0007 c0021 t0001 g0013 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA19085 hp1 a0001 c0001 t0001 g0001 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA19085 hp2 a0001 c0001 t0001 g0001 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA19086 hp1 a0001 c0001 t0001 g0001 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA19086 hp2 a0001 c0001 t0001 g0006 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA19087 hp1 a0013 c0018 t0001 g0001 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA19087 hp2 a0001 c0001 t0001 g0006 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA19089 hp1 a0001 c0001 t0001 g0001 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA19089 hp2 a0001 c0001 t0001 g0001 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA19090 hp1 a0000 c0000 t0000 g0000 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA19090 hp2 a0001 c0001 t0001 g0001 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA19091 hp1 a0000 c0000 t0000 g0000 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA19091 hp2 a0001 c0001 t0001 g0021 EAS JPT TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA19240 hp1 a0002 c0002 t0002 g0002 AFR YRI TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA19240 hp2 a0002 c0002 t0002 g0007 AFR YRI TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA20129 hp1 a0002 c0007 t0002 g0005 AFR ASW TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA20129 hp2 a0002 c0011 t0002 g0016 AFR ASW TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA20752 hp1 a0004 c0004 t0004 g0004 EUR TSI TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA20752 hp2 a0006 c0006 t0002 g0002 EUR TSI TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA20805 hp1 a0001 c0001 t0001 g0001 EUR TSI TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA20805 hp2 a0001 c0001 t0001 g0001 EUR TSI TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG01123 hp1 a0002 c0002 t0002 g0002 AMR CLM TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG01123 hp2 a0006 c0006 t0002 g0002 AMR CLM TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG02109 hp1 a0010 c0012 t0002 g0011 AFR ACB TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG02109 hp2 a0002 c0002 t0002 g0002 AFR ACB TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG02486 hp1 a0002 c0002 t0002 g0005 AFR ACB TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
HG02486 hp2 a0016 c0014 t0001 g0022 AFR ACB TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA20300 hp1 a0001 c0001 t0001 g0001 AFR USA TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA20300 hp2 a0008 c0008 t0001 g0008 AFR USA TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA21309 hp1 a0000 c0000 t0000 g0000 AFR LWK TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
NA21309 hp2 a0002 c0002 t0002 g0007 AFR LWK TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
homoSapiens_chm13v2 hp1 a0002 c0002 t0003 g0003 REF REF TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554
homoSapiens_grch38 hp1 a0002 c0002 t0003 g0003 REF REF TPSAB1_chr16_1235705_1247554 TPSAB1 chr16 1235705 1247554

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
chr16:1240946 A
A
 G
G
 13 a0001
a0003
a0004
others(10): Show 
a0001
a0003
a0004
a0007
a0008
a0011
a0012
a0013
a0014
a0015
a0016
a0017
a0018
 151 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(148): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00544.hp1
HG00642.hp2
HG00733.hp1
HG00738.hp1
HG01070.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02300.hp1
HG02451.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18951.hp1
NA18952.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18995.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19011.hp1
NA19012.hp2
NA19057.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
 missense_variant MODERATE c.8A>G
c.8A>G
 p.Asn3Ser
p.Asn3Ser
 TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 2/6 32/1166 8/828 3/275 chr16 1240946
chr16:1240982 G
G
 C
C
 11 a0001
a0003
a0007
others(8): Show 
a0001
a0003
a0007
a0008
a0009
a0011
a0012
a0013
a0014
a0015
a0016
 139 HG00280.hp2
HG00323.hp1
HG00423.hp2
others(136): Show 
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00544.hp1
HG00642.hp2
HG01070.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01261.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02300.hp1
HG02451.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03486.hp2
HG03490.hp1
HG03492.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
NA18612.hp1
NA18612.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18995.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19011.hp1
NA19012.hp2
NA19057.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19080.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
 missense_variant MODERATE c.44G>C
c.44G>C
 p.Arg15Pro
p.Arg15Pro
 TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 2/6 68/1166 44/828 15/275 chr16 1240982
chr16:1240991 C
C
 A
A
 1 a0016
a0016
 1 HG02486.hp2
HG02486.hp2
 missense_variant MODERATE c.53C>A
c.53C>A
 p.Ala18Glu
p.Ala18Glu
 TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 2/6 77/1166 53/828 18/275 chr16 1240991
chr16:1241159 G
G
 T
T
 14 a0001
a0003
a0004
others(11): Show 
a0001
a0003
a0004
a0007
a0008
a0009
a0011
a0012
a0013
a0014
a0015
a0016
a0017
a0018
 153 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(150): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00544.hp1
HG00642.hp2
HG00733.hp1
HG00738.hp1
HG01070.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02300.hp1
HG02451.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18995.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19011.hp1
NA19012.hp2
NA19057.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19080.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
 missense_variant MODERATE c.68G>T
c.68G>T
 p.Gly23Val
p.Gly23Val
 TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 3/6 92/1166 68/828 23/275 chr16 1241159
chr16:1241174 G
G
 A
A
 14 a0001
a0003
a0004
others(11): Show 
a0001
a0003
a0004
a0007
a0008
a0009
a0011
a0012
a0013
a0014
a0015
a0016
a0017
a0018
 153 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(150): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00544.hp1
HG00642.hp2
HG00733.hp1
HG00738.hp1
HG01070.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02300.hp1
HG02451.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18995.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19011.hp1
NA19012.hp2
NA19057.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19080.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
 missense_variant MODERATE c.83G>A
c.83G>A
 p.Arg28Gln
p.Arg28Gln
 TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 3/6 107/1166 83/828 28/275 chr16 1241174
chr16:1241177 T
T
 C
C
 14 a0001
a0003
a0004
others(11): Show 
a0001
a0003
a0004
a0007
a0008
a0009
a0011
a0012
a0013
a0014
a0015
a0016
a0017
a0018
 153 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(150): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00544.hp1
HG00642.hp2
HG00733.hp1
HG00738.hp1
HG01070.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02300.hp1
HG02451.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18995.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19011.hp1
NA19012.hp2
NA19057.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19080.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
 missense_variant MODERATE c.86T>C
c.86T>C
 p.Val29Ala
p.Val29Ala
 TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 3/6 110/1166 86/828 29/275 chr16 1241177
chr16:1241243 A
A
 G
G
 15 a0001
a0003
a0004
others(12): Show 
a0001
a0003
a0004
a0007
a0008
a0009
a0010
a0011
a0012
a0013
a0014
a0015
a0016
a0017
a0018
 155 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(152): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00544.hp1
HG00642.hp2
HG00733.hp1
HG00738.hp1
HG01070.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02300.hp1
HG02451.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp2
HG03516.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18995.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19011.hp1
NA19012.hp2
NA19057.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19080.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
 missense_variant MODERATE c.152A>G
c.152A>G
 p.His51Arg
p.His51Arg
 TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 3/6 176/1166 152/828 51/275 chr16 1241243
chr16:1241246 G
G
 A
A
 15 a0001
a0003
a0004
others(12): Show 
a0001
a0003
a0004
a0007
a0008
a0009
a0010
a0011
a0012
a0013
a0014
a0015
a0016
a0017
a0018
 155 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(152): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00544.hp1
HG00642.hp2
HG00733.hp1
HG00738.hp1
HG01070.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02300.hp1
HG02451.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp2
HG03516.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18995.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19011.hp1
NA19012.hp2
NA19057.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19080.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
 missense_variant MODERATE c.155G>A
c.155G>A
 p.Gly52Asp
p.Gly52Asp
 TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 3/6 179/1166 155/828 52/275 chr16 1241246
chr16:1241249 C
C
 G
G
 14 a0001
a0003
a0004
others(11): Show 
a0001
a0003
a0004
a0007
a0008
a0009
a0010
a0011
a0012
a0013
a0014
a0015
a0016
a0018
 154 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(151): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00544.hp1
HG00642.hp2
HG00738.hp1
HG01070.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02300.hp1
HG02451.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp2
HG03516.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18995.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19011.hp1
NA19012.hp2
NA19057.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19080.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
 missense_variant MODERATE c.158C>G
c.158C>G
 p.Pro53Arg
p.Pro53Arg
 TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 3/6 182/1166 158/828 53/275 chr16 1241249
chr16:1241317 G
G
 C
C
 14 a0001
a0003
a0004
others(11): Show 
a0001
a0003
a0004
a0007
a0008
a0009
a0011
a0012
a0013
a0014
a0015
a0016
a0017
a0018
 153 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(150): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00544.hp1
HG00642.hp2
HG00733.hp1
HG00738.hp1
HG01070.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02300.hp1
HG02451.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18995.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19011.hp1
NA19012.hp2
NA19057.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19080.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
 missense_variant MODERATE c.226G>C
c.226G>C
 p.Val76Leu
p.Val76Leu
 TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 3/6 250/1166 226/828 76/275 chr16 1241317
chr16:1241453 G
G
 A
A
 13 a0001
a0003
a0004
others(10): Show 
a0001
a0003
a0004
a0008
a0009
a0011
a0012
a0013
a0014
a0015
a0016
a0017
a0018
 148 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(145): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00544.hp1
HG00642.hp2
HG00733.hp1
HG00738.hp1
HG01070.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02300.hp1
HG02451.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp2
HG03490.hp1
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18961.hp2
NA18963.hp1
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18995.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19011.hp1
NA19012.hp2
NA19057.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19080.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
 missense_variant MODERATE c.253G>A
c.253G>A
 p.Ala85Thr
p.Ala85Thr
 TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 4/6 277/1166 253/828 85/275 chr16 1241453
chr16:1241544 C
C
 T
T
 13 a0001
a0003
a0004
others(10): Show 
a0001
a0003
a0004
a0007
a0008
a0009
a0011
a0012
a0013
a0014
a0016
a0017
a0018
 152 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(149): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00544.hp1
HG00642.hp2
HG00733.hp1
HG00738.hp1
HG01070.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02300.hp1
HG02451.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18995.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19011.hp1
NA19012.hp2
NA19057.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19080.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
 missense_variant MODERATE c.344C>T
c.344C>T
 p.Thr115Ile
p.Thr115Ile
 TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 4/6 368/1166 344/828 115/275 chr16 1241544
chr16:1241546 G
G
 A
A
 13 a0001
a0003
a0004
others(10): Show 
a0001
a0003
a0004
a0007
a0008
a0009
a0011
a0012
a0013
a0014
a0016
a0017
a0018
 152 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(149): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00544.hp1
HG00642.hp2
HG00733.hp1
HG00738.hp1
HG01070.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02300.hp1
HG02451.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18995.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19011.hp1
NA19012.hp2
NA19057.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19080.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
 missense_variant MODERATE c.346G>A
c.346G>A
 p.Ala116Thr
p.Ala116Thr
 TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 4/6 370/1166 346/828 116/275 chr16 1241546
chr16:1241547 C
C
 T
T
 13 a0001
a0003
a0004
others(10): Show 
a0001
a0003
a0004
a0007
a0008
a0009
a0011
a0012
a0013
a0014
a0016
a0017
a0018
 152 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(149): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00544.hp1
HG00642.hp2
HG00733.hp1
HG00738.hp1
HG01070.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02300.hp1
HG02451.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18995.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19011.hp1
NA19012.hp2
NA19057.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19080.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
 missense_variant MODERATE c.347C>T
c.347C>T
 p.Ala116Val
p.Ala116Val
 TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 4/6 371/1166 347/828 116/275 chr16 1241547
chr16:1241553 T
T
 C
C
 12 a0001
a0003
a0004
others(9): Show 
a0001
a0003
a0004
a0007
a0008
a0009
a0012
a0013
a0014
a0016
a0017
a0018
 151 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(148): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00544.hp1
HG00642.hp2
HG00733.hp1
HG00738.hp1
HG01070.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02300.hp1
HG02451.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18995.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19011.hp1
NA19012.hp2
NA19057.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19080.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
 missense_variant MODERATE c.353T>C
c.353T>C
 p.Ile118Thr
p.Ile118Thr
 TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 4/6 377/1166 353/828 118/275 chr16 1241553
chr16:1241553 T
T
 G
G
 1 a0011
a0011
 1 HG03654.hp2
HG03654.hp2
 missense_variant MODERATE c.353T>G
c.353T>G
 p.Ile118Ser
p.Ile118Ser
 TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 4/6 377/1166 353/828 118/275 chr16 1241553
chr16:1241559 C
C
 T
T
 1 a0018
a0018
 1 HG01099.hp1
HG01099.hp1
 missense_variant MODERATE c.359C>T
c.359C>T
 p.Ala120Val
p.Ala120Val
 TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 4/6 383/1166 359/828 120/275 chr16 1241559
chr16:1241596 C
C
 G
G
 1 a0015
a0015
 1 HG02135.hp1
HG02135.hp1
 missense_variant MODERATE c.396C>G
c.396C>G
 p.Asn132Lys
p.Asn132Lys
 TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 4/6 420/1166 396/828 132/275 chr16 1241596
chr16:1241597 G
G
 A
A
 14 a0001
a0003
a0004
others(11): Show 
a0001
a0003
a0004
a0005
a0007
a0008
a0009
a0011
a0012
a0013
a0014
a0016
a0017
a0018
 159 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(156): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00544.hp1
HG00642.hp2
HG00733.hp1
HG00738.hp1
HG01070.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02300.hp1
HG02451.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18995.hp1
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19011.hp1
NA19012.hp2
NA19057.hp1
NA19057.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19080.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
 missense_variant MODERATE c.397G>A
c.397G>A
 p.Val133Ile
p.Val133Ile
 TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 4/6 421/1166 397/828 133/275 chr16 1241597
chr16:1241607 A
A
 G
G
 13 a0001
a0003
a0004
others(10): Show 
a0001
a0003
a0004
a0007
a0008
a0009
a0011
a0012
a0013
a0014
a0016
a0017
a0018
 152 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(149): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00544.hp1
HG00642.hp2
HG00733.hp1
HG00738.hp1
HG01070.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02300.hp1
HG02451.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18995.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19011.hp1
NA19012.hp2
NA19057.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19080.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
 missense_variant MODERATE c.407A>G
c.407A>G
 p.His136Arg
p.His136Arg
 TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 4/6 431/1166 407/828 136/275 chr16 1241607
chr16:1241622 C
C
 T
T
 13 a0001
a0003
a0004
others(10): Show 
a0001
a0003
a0004
a0007
a0008
a0009
a0011
a0012
a0013
a0014
a0016
a0017
a0018
 152 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(149): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00544.hp1
HG00642.hp2
HG00733.hp1
HG00738.hp1
HG01070.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02300.hp1
HG02451.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18995.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19011.hp1
NA19012.hp2
NA19057.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19080.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
 missense_variant MODERATE c.422C>T
c.422C>T
 p.Thr141Ile
p.Thr141Ile
 TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 4/6 446/1166 422/828 141/275 chr16 1241622
chr16:1241625 T
T
 C
C
 1 a0014
a0014
 1 HG02451.hp1
HG02451.hp1
 missense_variant MODERATE c.425T>C
c.425T>C
 p.Leu142Pro
p.Leu142Pro
 TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 4/6 449/1166 425/828 142/275 chr16 1241625
chr16:1241684 G
G
 A
A
 1 a0006
a0006
 5 HG01106.hp2
HG01109.hp1
HG01123.hp2
others(2): Show 
HG01106.hp2
HG01109.hp1
HG01123.hp2
HG01175.hp1
NA20752.hp2
 missense_variant MODERATE c.484G>A
c.484G>A
 p.Asp162Asn
p.Asp162Asn
 TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 4/6 508/1166 484/828 162/275 chr16 1241684
chr16:1241830 G
G
 C
C
 14 a0001
a0003
a0004
others(11): Show 
a0001
a0003
a0004
a0007
a0008
a0009
a0011
a0012
a0013
a0014
a0015
a0016
a0017
a0018
 153 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(150): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00544.hp1
HG00642.hp2
HG00733.hp1
HG00738.hp1
HG01070.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02300.hp1
HG02451.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18995.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19011.hp1
NA19012.hp2
NA19057.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19080.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
 missense_variant MODERATE c.503G>C
c.503G>C
 p.Arg168Pro
p.Arg168Pro
 TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 5/6 527/1166 503/828 168/275 chr16 1241830
chr16:1241835 C
C
 T
T
 2 a0003
a0007
a0003
a0007
 18 HG01167.hp2
HG01169.hp2
HG01261.hp2
others(15): Show 
HG01167.hp2
HG01169.hp2
HG01261.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG03195.hp2
HG03492.hp2
NA18943.hp2
NA18949.hp1
NA18949.hp2
NA18962.hp2
NA18970.hp2
NA18982.hp1
NA18998.hp2
NA19004.hp1
NA19011.hp1
NA19083.hp2
 missense_variant MODERATE c.508C>T
c.508C>T
 p.Pro170Ser
p.Pro170Ser
 TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 5/6 532/1166 508/828 170/275 chr16 1241835
chr16:1241935 G
G
 T
T
 1 a0012
a0012
 1 NA18991.hp1
NA18991.hp1
 missense_variant MODERATE c.608G>T
c.608G>T
 p.Arg203Leu
p.Arg203Leu
 TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 5/6 632/1166 608/828 203/275 chr16 1241935
chr16:1241940 G
G
 A
A
 13 a0001
a0003
a0004
others(10): Show 
a0001
a0003
a0004
a0007
a0008
a0009
a0011
a0012
a0014
a0015
a0016
a0017
a0018
 152 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(149): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00544.hp1
HG00642.hp2
HG00733.hp1
HG00738.hp1
HG01070.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02300.hp1
HG02451.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18995.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19011.hp1
NA19012.hp2
NA19057.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19080.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
 missense_variant MODERATE c.613G>A
c.613G>A
 p.Val205Ile
p.Val205Ile
 TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 5/6 637/1166 613/828 205/275 chr16 1241940
chr16:1241971 C
C
 G
G
 8 a0003
a0004
a0007
others(5): Show 
a0003
a0004
a0007
a0008
a0014
a0016
a0017
a0018
 38 HG00280.hp1
HG00733.hp1
HG00738.hp1
others(35): Show 
HG00280.hp1
HG00733.hp1
HG00738.hp1
HG01074.hp2
HG01099.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01517.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02451.hp1
HG02486.hp2
HG02717.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03492.hp2
HG04228.hp1
NA18943.hp2
NA18949.hp1
NA18949.hp2
NA18962.hp2
NA18970.hp2
NA18982.hp1
NA18998.hp2
NA19004.hp1
NA19011.hp1
NA19083.hp2
NA20300.hp2
NA20752.hp1
 missense_variant MODERATE c.644C>G
c.644C>G
 p.Thr215Ser
p.Thr215Ser
 TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 5/6 668/1166 644/828 215/275 chr16 1241971
chr16:1241974 G
G
 A
A
 8 a0003
a0004
a0007
others(5): Show 
a0003
a0004
a0007
a0008
a0014
a0016
a0017
a0018
 38 HG00280.hp1
HG00733.hp1
HG00738.hp1
others(35): Show 
HG00280.hp1
HG00733.hp1
HG00738.hp1
HG01074.hp2
HG01099.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01517.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02451.hp1
HG02486.hp2
HG02717.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03492.hp2
HG04228.hp1
NA18943.hp2
NA18949.hp1
NA18949.hp2
NA18962.hp2
NA18970.hp2
NA18982.hp1
NA18998.hp2
NA19004.hp1
NA19011.hp1
NA19083.hp2
NA20300.hp2
NA20752.hp1
 missense_variant MODERATE c.647G>A
c.647G>A
 p.Arg216Gln
p.Arg216Gln
 TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 5/6 671/1166 647/828 216/275 chr16 1241974
chr16:1241988 C
C
 A
A
 8 a0003
a0004
a0007
others(5): Show 
a0003
a0004
a0007
a0008
a0014
a0016
a0017
a0018
 38 HG00280.hp1
HG00733.hp1
HG00738.hp1
others(35): Show 
HG00280.hp1
HG00733.hp1
HG00738.hp1
HG01074.hp2
HG01099.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01517.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02451.hp1
HG02486.hp2
HG02717.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03492.hp2
HG04228.hp1
NA18943.hp2
NA18949.hp1
NA18949.hp2
NA18962.hp2
NA18970.hp2
NA18982.hp1
NA18998.hp2
NA19004.hp1
NA19011.hp1
NA19083.hp2
NA20300.hp2
NA20752.hp1
 missense_variant&splice_region_variant MODERATE c.661C>A
c.661C>A
 p.Gln221Lys
p.Gln221Lys
 TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 5/6 685/1166 661/828 221/275 chr16 1241988
chr16:1242146 G
G
 A
A
 14 a0001
a0003
a0004
others(11): Show 
a0001
a0003
a0004
a0007
a0008
a0009
a0011
a0012
a0013
a0014
a0015
a0016
a0017
a0018
 153 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(150): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00544.hp1
HG00642.hp2
HG00733.hp1
HG00738.hp1
HG01070.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02300.hp1
HG02451.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18995.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19011.hp1
NA19012.hp2
NA19057.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19080.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
 missense_variant MODERATE c.734G>A
c.734G>A
 p.Gly245Asp
p.Gly245Asp
 TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 6/6 758/1166 734/828 245/275 chr16 1242146

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
chr16:1240947 T
T
 C
C
 16 a0001c0001
a0003c0003
a0003c0016
others(13): Show 
a0001c0001
a0003c0003
a0003c0016
a0004c0004
a0004c0024
a0007c0009
a0007c0021
a0008c0008
a0011c0020
a0012c0019
a0013c0018
a0014c0015
a0015c0017
a0016c0014
a0017c0022
a0018c0023
 151 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(148): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00544.hp1
HG00642.hp2
HG00733.hp1
HG00738.hp1
HG01070.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02300.hp1
HG02451.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18951.hp1
NA18952.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18995.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19011.hp1
NA19012.hp2
NA19057.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
 synonymous_variant LOW c.9T>C
c.9T>C
 p.Asn3Asn
p.Asn3Asn
 TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 2/6 33/1166 9/828 3/275 chr16 1240947
chr16:1240983 C
C
 G
G
 13 a0001c0001
a0003c0003
a0003c0016
others(10): Show 
a0001c0001
a0003c0003
a0003c0016
a0007c0009
a0007c0021
a0008c0008
a0009c0010
a0011c0020
a0012c0019
a0013c0018
a0014c0015
a0015c0017
a0016c0014
 139 HG00280.hp2
HG00323.hp1
HG00423.hp2
others(136): Show 
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00544.hp1
HG00642.hp2
HG01070.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01261.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02300.hp1
HG02451.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03486.hp2
HG03490.hp1
HG03492.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
NA18612.hp1
NA18612.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18995.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19011.hp1
NA19012.hp2
NA19057.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19080.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
 synonymous_variant LOW c.45C>G
c.45C>G
 p.Arg15Arg
p.Arg15Arg
 TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 2/6 69/1166 45/828 15/275 chr16 1240983
chr16:1241181 C
C
 T
T
 17 a0001c0001
a0003c0003
a0003c0016
others(14): Show 
a0001c0001
a0003c0003
a0003c0016
a0004c0004
a0004c0024
a0007c0009
a0007c0021
a0008c0008
a0009c0010
a0011c0020
a0012c0019
a0013c0018
a0014c0015
a0015c0017
a0016c0014
a0017c0022
a0018c0023
 153 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(150): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00544.hp1
HG00642.hp2
HG00733.hp1
HG00738.hp1
HG01070.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02300.hp1
HG02451.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18995.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19011.hp1
NA19012.hp2
NA19057.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19080.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
 synonymous_variant LOW c.90C>T
c.90C>T
 p.Gly30Gly
p.Gly30Gly
 TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 3/6 114/1166 90/828 30/275 chr16 1241181
chr16:1241187 C
C
 T
T
 1 a0010c0012
a0010c0012
 2 HG02109.hp1
HG03516.hp2
HG02109.hp1
HG03516.hp2
 synonymous_variant LOW c.96C>T
c.96C>T
 p.Val32Val
p.Val32Val
 TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 3/6 120/1166 96/828 32/275 chr16 1241187
chr16:1241244 C
C
 T
T
 1 a0002c0011
a0002c0011
 2 HG03139.hp2
NA20129.hp2
HG03139.hp2
NA20129.hp2
 synonymous_variant LOW c.153C>T
c.153C>T
 p.His51His
p.His51His
 TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 3/6 177/1166 153/828 51/275 chr16 1241244
chr16:1241268 C
C
 T
T
 7 a0001c0001
a0007c0021
a0009c0010
others(4): Show 
a0001c0001
a0007c0021
a0009c0010
a0011c0020
a0012c0019
a0013c0018
a0015c0017
 116 HG00280.hp2
HG00323.hp1
HG00423.hp2
others(113): Show 
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00544.hp1
HG00642.hp2
HG01070.hp1
HG01099.hp2
HG01109.hp2
HG01175.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG02027.hp2
HG02056.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02300.hp1
HG02615.hp1
HG02630.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03486.hp2
HG03490.hp1
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
NA18612.hp1
NA18612.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18961.hp2
NA18963.hp1
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18971.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18985.hp2
NA18986.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18995.hp1
NA18997.hp2
NA18998.hp1
NA18999.hp2
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19012.hp2
NA19057.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19080.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA19091.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
 synonymous_variant LOW c.177C>T
c.177C>T
 p.Cys59Cys
p.Cys59Cys
 TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 3/6 201/1166 177/828 59/275 chr16 1241268
chr16:1241304 C
C
 T
T
 1 a0002c0013
a0002c0013
 1 HG00323.hp2
HG00323.hp2
 synonymous_variant LOW c.213C>T
c.213C>T
 p.Thr71Thr
p.Thr71Thr
 TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 3/6 237/1166 213/828 71/275 chr16 1241304
chr16:1241307 A
A
 G
G
 17 a0001c0001
a0003c0003
a0003c0016
others(14): Show 
a0001c0001
a0003c0003
a0003c0016
a0004c0004
a0004c0024
a0007c0009
a0007c0021
a0008c0008
a0009c0010
a0011c0020
a0012c0019
a0013c0018
a0014c0015
a0015c0017
a0016c0014
a0017c0022
a0018c0023
 153 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(150): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00544.hp1
HG00642.hp2
HG00733.hp1
HG00738.hp1
HG01070.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02300.hp1
HG02451.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18995.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19011.hp1
NA19012.hp2
NA19057.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19080.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
 synonymous_variant LOW c.216A>G
c.216A>G
 p.Ala72Ala
p.Ala72Ala
 TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 3/6 240/1166 216/828 72/275 chr16 1241307
chr16:1241455 C
C
 T
T
 1 a0004c0024
a0004c0024
 1 HG03239.hp1
HG03239.hp1
 synonymous_variant LOW c.255C>T
c.255C>T
 p.Ala85Ala
p.Ala85Ala
 TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 4/6 279/1166 255/828 85/275 chr16 1241455
chr16:1241509 G
G
 A
A
 5 a0002c0007
a0004c0004
a0004c0024
others(2): Show 
a0002c0007
a0004c0004
a0004c0024
a0017c0022
a0018c0023
 18 HG00280.hp1
HG00733.hp1
HG00738.hp1
others(15): Show 
HG00280.hp1
HG00733.hp1
HG00738.hp1
HG01074.hp2
HG01099.hp1
HG01168.hp1
HG01169.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01517.hp2
HG02615.hp2
HG03239.hp1
HG03453.hp2
HG04228.hp1
NA19030.hp1
NA20129.hp1
NA20752.hp1
 synonymous_variant LOW c.309G>A
c.309G>A
 p.Pro103Pro
p.Pro103Pro
 TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 4/6 333/1166 309/828 103/275 chr16 1241509
chr16:1241533 A
A
 C
C
 4 a0003c0003
a0003c0016
a0007c0009
others(1): Show 
a0003c0003
a0003c0016
a0007c0009
a0007c0021
 18 HG01167.hp2
HG01169.hp2
HG01261.hp2
others(15): Show 
HG01167.hp2
HG01169.hp2
HG01261.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG03195.hp2
HG03492.hp2
NA18943.hp2
NA18949.hp1
NA18949.hp2
NA18962.hp2
NA18970.hp2
NA18982.hp1
NA18998.hp2
NA19004.hp1
NA19011.hp1
NA19083.hp2
 synonymous_variant LOW c.333A>C
c.333A>C
 p.Pro111Pro
p.Pro111Pro
 TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 4/6 357/1166 333/828 111/275 chr16 1241533
chr16:1241554 C
C
 T
T
 15 a0001c0001
a0003c0003
a0004c0004
others(12): Show 
a0001c0001
a0003c0003
a0004c0004
a0004c0024
a0007c0009
a0007c0021
a0008c0008
a0009c0010
a0011c0020
a0012c0019
a0013c0018
a0014c0015
a0016c0014
a0017c0022
a0018c0023
 151 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(148): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00544.hp1
HG00642.hp2
HG00733.hp1
HG00738.hp1
HG01070.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02074.hp1
HG02083.hp1
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02300.hp1
HG02451.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18995.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19011.hp1
NA19012.hp2
NA19057.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19080.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
 synonymous_variant LOW c.354C>T
c.354C>T
 p.Ile118Ile
p.Ile118Ile
 TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 4/6 378/1166 354/828 118/275 chr16 1241554
chr16:1241563 C
C
 T
T
 16 a0001c0001
a0003c0003
a0003c0016
others(13): Show 
a0001c0001
a0003c0003
a0003c0016
a0004c0004
a0004c0024
a0007c0009
a0007c0021
a0008c0008
a0009c0010
a0011c0020
a0012c0019
a0013c0018
a0014c0015
a0016c0014
a0017c0022
a0018c0023
 152 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(149): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00544.hp1
HG00642.hp2
HG00733.hp1
HG00738.hp1
HG01070.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02300.hp1
HG02451.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18995.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19011.hp1
NA19012.hp2
NA19057.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19080.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
 synonymous_variant LOW c.363C>T
c.363C>T
 p.Asp121Asp
p.Asp121Asp
 TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 4/6 387/1166 363/828 121/275 chr16 1241563
chr16:1241590 G
G
 C
C
 17 a0001c0001
a0003c0003
a0003c0016
others(14): Show 
a0001c0001
a0003c0003
a0003c0016
a0004c0004
a0004c0024
a0005c0005
a0007c0009
a0007c0021
a0008c0008
a0009c0010
a0011c0020
a0012c0019
a0013c0018
a0014c0015
a0016c0014
a0017c0022
a0018c0023
 159 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(156): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00544.hp1
HG00642.hp2
HG00733.hp1
HG00738.hp1
HG01070.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02300.hp1
HG02451.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18995.hp1
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19011.hp1
NA19012.hp2
NA19057.hp1
NA19057.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19080.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
 synonymous_variant LOW c.390G>C
c.390G>C
 p.Pro130Pro
p.Pro130Pro
 TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 4/6 414/1166 390/828 130/275 chr16 1241590
chr16:1241623 C
C
 G
G
 16 a0001c0001
a0003c0003
a0003c0016
others(13): Show 
a0001c0001
a0003c0003
a0003c0016
a0004c0004
a0004c0024
a0007c0009
a0007c0021
a0008c0008
a0009c0010
a0011c0020
a0012c0019
a0013c0018
a0014c0015
a0016c0014
a0017c0022
a0018c0023
 152 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(149): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00544.hp1
HG00642.hp2
HG00733.hp1
HG00738.hp1
HG01070.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02300.hp1
HG02451.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18995.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19011.hp1
NA19012.hp2
NA19057.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19080.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
 synonymous_variant LOW c.423C>G
c.423C>G
 p.Thr141Thr
p.Thr141Thr
 TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 4/6 447/1166 423/828 141/275 chr16 1241623
chr16:1241638 A
A
 G
G
 17 a0001c0001
a0003c0003
a0003c0016
others(14): Show 
a0001c0001
a0003c0003
a0003c0016
a0004c0004
a0004c0024
a0007c0009
a0007c0021
a0008c0008
a0009c0010
a0011c0020
a0012c0019
a0013c0018
a0014c0015
a0015c0017
a0016c0014
a0017c0022
a0018c0023
 153 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(150): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00544.hp1
HG00642.hp2
HG00733.hp1
HG00738.hp1
HG01070.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02300.hp1
HG02451.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18995.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19011.hp1
NA19012.hp2
NA19057.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19080.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
 synonymous_variant LOW c.438A>G
c.438A>G
 p.Ser146Ser
p.Ser146Ser
 TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 4/6 462/1166 438/828 146/275 chr16 1241638
chr16:1241849 T
T
 C
C
 17 a0001c0001
a0003c0003
a0003c0016
others(14): Show 
a0001c0001
a0003c0003
a0003c0016
a0004c0004
a0004c0024
a0007c0009
a0007c0021
a0008c0008
a0009c0010
a0011c0020
a0012c0019
a0013c0018
a0014c0015
a0015c0017
a0016c0014
a0017c0022
a0018c0023
 153 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(150): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00544.hp1
HG00642.hp2
HG00733.hp1
HG00738.hp1
HG01070.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02300.hp1
HG02451.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18995.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19011.hp1
NA19012.hp2
NA19057.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19080.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
 synonymous_variant LOW c.522T>C
c.522T>C
 p.Pro174Pro
p.Pro174Pro
 TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 5/6 546/1166 522/828 174/275 chr16 1241849
chr16:1241984 A
A
 C
C
 11 a0003c0003
a0003c0016
a0004c0004
others(8): Show 
a0003c0003
a0003c0016
a0004c0004
a0004c0024
a0007c0009
a0007c0021
a0008c0008
a0014c0015
a0016c0014
a0017c0022
a0018c0023
 38 HG00280.hp1
HG00733.hp1
HG00738.hp1
others(35): Show 
HG00280.hp1
HG00733.hp1
HG00738.hp1
HG01074.hp2
HG01099.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01517.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02451.hp1
HG02486.hp2
HG02717.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03492.hp2
HG04228.hp1
NA18943.hp2
NA18949.hp1
NA18949.hp2
NA18962.hp2
NA18970.hp2
NA18982.hp1
NA18998.hp2
NA19004.hp1
NA19011.hp1
NA19083.hp2
NA20300.hp2
NA20752.hp1
 synonymous_variant LOW c.657A>C
c.657A>C
 p.Ser219Ser
p.Ser219Ser
 TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 5/6 681/1166 657/828 219/275 chr16 1241984
chr16:1242084 C
C
 T
T
 17 a0001c0001
a0003c0003
a0003c0016
others(14): Show 
a0001c0001
a0003c0003
a0003c0016
a0004c0004
a0004c0024
a0007c0009
a0007c0021
a0008c0008
a0009c0010
a0011c0020
a0012c0019
a0013c0018
a0014c0015
a0015c0017
a0016c0014
a0017c0022
a0018c0023
 153 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(150): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00544.hp1
HG00642.hp2
HG00733.hp1
HG00738.hp1
HG01070.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02300.hp1
HG02451.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18995.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19011.hp1
NA19012.hp2
NA19057.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19080.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
 synonymous_variant LOW c.672C>T
c.672C>T
 p.Ser224Ser
p.Ser224Ser
 TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 6/6 696/1166 672/828 224/275 chr16 1242084
chr16:1242123 G
G
 A
A
 17 a0001c0001
a0003c0003
a0003c0016
others(14): Show 
a0001c0001
a0003c0003
a0003c0016
a0004c0004
a0004c0024
a0007c0009
a0007c0021
a0008c0008
a0009c0010
a0011c0020
a0012c0019
a0013c0018
a0014c0015
a0015c0017
a0016c0014
a0017c0022
a0018c0023
 153 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(150): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00544.hp1
HG00642.hp2
HG00733.hp1
HG00738.hp1
HG01070.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02300.hp1
HG02451.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18995.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19011.hp1
NA19012.hp2
NA19057.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19080.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
 synonymous_variant LOW c.711G>A
c.711G>A
 p.Leu237Leu
p.Leu237Leu
 TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 6/6 735/1166 711/828 237/275 chr16 1242123

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
chr16:1240721 C
C
 T
T
 18 a0001c0001t0001
a0001c0001t0005
a0003c0003t0001
others(15): Show 
a0001c0001t0001
a0001c0001t0005
a0003c0003t0001
a0003c0016t0001
a0004c0004t0004
a0004c0024t0004
a0007c0009t0001
a0007c0021t0001
a0008c0008t0001
a0009c0010t0001
a0011c0020t0001
a0012c0019t0001
a0013c0018t0001
a0014c0015t0007
a0015c0017t0001
a0016c0014t0001
a0017c0022t0004
a0018c0023t0004
 152 HG00280.hp2
HG00323.hp1
HG00423.hp2
others(149): Show 
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00544.hp1
HG00642.hp2
HG00733.hp1
HG00738.hp1
HG01070.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02300.hp1
HG02451.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18995.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19011.hp1
NA19012.hp2
NA19057.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19080.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
 5_prime_UTR_variant MODIFIER c.-8C>T
c.-8C>T
TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 1/6 218 chr16 1240721
chr16:1242253 T
T
 G
G
 19 a0001c0001t0001
a0001c0001t0005
a0003c0003t0001
others(16): Show 
a0001c0001t0001
a0001c0001t0005
a0003c0003t0001
a0003c0016t0001
a0004c0004t0004
a0004c0004t0006
a0004c0024t0004
a0007c0009t0001
a0007c0021t0001
a0008c0008t0001
a0009c0010t0001
a0011c0020t0001
a0012c0019t0001
a0013c0018t0001
a0014c0015t0007
a0015c0017t0001
a0016c0014t0001
a0017c0022t0004
a0018c0023t0004
 153 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(150): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00544.hp1
HG00642.hp2
HG00733.hp1
HG00738.hp1
HG01070.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02300.hp1
HG02451.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18995.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19011.hp1
NA19012.hp2
NA19057.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19080.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
 3_prime_UTR_variant MODIFIER c.*13T>G
c.*13T>G
TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 6/6 13 chr16 1242253
chr16:1242256 G
G
 T
T
 19 a0001c0001t0001
a0001c0001t0005
a0003c0003t0001
others(16): Show 
a0001c0001t0001
a0001c0001t0005
a0003c0003t0001
a0003c0016t0001
a0004c0004t0004
a0004c0004t0006
a0004c0024t0004
a0007c0009t0001
a0007c0021t0001
a0008c0008t0001
a0009c0010t0001
a0011c0020t0001
a0012c0019t0001
a0013c0018t0001
a0014c0015t0007
a0015c0017t0001
a0016c0014t0001
a0017c0022t0004
a0018c0023t0004
 153 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(150): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00544.hp1
HG00642.hp2
HG00733.hp1
HG00738.hp1
HG01070.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02300.hp1
HG02451.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18995.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19011.hp1
NA19012.hp2
NA19057.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19080.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
 3_prime_UTR_variant MODIFIER c.*16G>T
c.*16G>T
TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 6/6 16 chr16 1242256
chr16:1242275 G
G
 A
A
 14 a0001c0001t0001
a0001c0001t0005
a0003c0003t0001
others(11): Show 
a0001c0001t0001
a0001c0001t0005
a0003c0003t0001
a0003c0016t0001
a0007c0009t0001
a0007c0021t0001
a0008c0008t0001
a0009c0010t0001
a0011c0020t0001
a0012c0019t0001
a0013c0018t0001
a0014c0015t0007
a0015c0017t0001
a0016c0014t0001
 139 HG00280.hp2
HG00323.hp1
HG00423.hp2
others(136): Show 
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00544.hp1
HG00642.hp2
HG01070.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01261.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02300.hp1
HG02451.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03486.hp2
HG03490.hp1
HG03492.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
NA18612.hp1
NA18612.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18995.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19011.hp1
NA19012.hp2
NA19057.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19080.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
 3_prime_UTR_variant MODIFIER c.*35G>A
c.*35G>A
TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 6/6 35 chr16 1242275
chr16:1242276 A
A
 G
G
 14 a0001c0001t0001
a0001c0001t0005
a0003c0003t0001
others(11): Show 
a0001c0001t0001
a0001c0001t0005
a0003c0003t0001
a0003c0016t0001
a0007c0009t0001
a0007c0021t0001
a0008c0008t0001
a0009c0010t0001
a0011c0020t0001
a0012c0019t0001
a0013c0018t0001
a0014c0015t0007
a0015c0017t0001
a0016c0014t0001
 139 HG00280.hp2
HG00323.hp1
HG00423.hp2
others(136): Show 
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00544.hp1
HG00642.hp2
HG01070.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01261.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02300.hp1
HG02451.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03486.hp2
HG03490.hp1
HG03492.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
NA18612.hp1
NA18612.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18995.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19011.hp1
NA19012.hp2
NA19057.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19080.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
 3_prime_UTR_variant MODIFIER c.*36A>G
c.*36A>G
TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 6/6 36 chr16 1242276
chr16:1242280 A
A
 G
G
 14 a0001c0001t0001
a0001c0001t0005
a0003c0003t0001
others(11): Show 
a0001c0001t0001
a0001c0001t0005
a0003c0003t0001
a0003c0016t0001
a0007c0009t0001
a0007c0021t0001
a0008c0008t0001
a0009c0010t0001
a0011c0020t0001
a0012c0019t0001
a0013c0018t0001
a0014c0015t0007
a0015c0017t0001
a0016c0014t0001
 139 HG00280.hp2
HG00323.hp1
HG00423.hp2
others(136): Show 
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00544.hp1
HG00642.hp2
HG01070.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01261.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02300.hp1
HG02451.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03486.hp2
HG03490.hp1
HG03492.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
NA18612.hp1
NA18612.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18995.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19011.hp1
NA19012.hp2
NA19057.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19080.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
 3_prime_UTR_variant MODIFIER c.*40A>G
c.*40A>G
TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 6/6 40 chr16 1242280
chr16:1242286 G
G
 C
C
 13 a0001c0001t0001
a0001c0001t0005
a0003c0003t0001
others(10): Show 
a0001c0001t0001
a0001c0001t0005
a0003c0003t0001
a0003c0016t0001
a0007c0009t0001
a0007c0021t0001
a0008c0008t0001
a0009c0010t0001
a0011c0020t0001
a0012c0019t0001
a0013c0018t0001
a0015c0017t0001
a0016c0014t0001
 138 HG00280.hp2
HG00323.hp1
HG00423.hp2
others(135): Show 
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00544.hp1
HG00642.hp2
HG01070.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01261.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02300.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03486.hp2
HG03490.hp1
HG03492.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
NA18612.hp1
NA18612.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18995.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19011.hp1
NA19012.hp2
NA19057.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19080.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
 3_prime_UTR_variant MODIFIER c.*46G>C
c.*46G>C
TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 6/6 46 chr16 1242286
chr16:1242310 T
T
 C
C
 1 a0001c0001t0005
a0001c0001t0005
 2 HG02258.hp1
HG02809.hp2
HG02258.hp1
HG02809.hp2
 3_prime_UTR_variant MODIFIER c.*70T>C
c.*70T>C
TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 6/6 70 chr16 1242310
chr16:1242424 T
T
 C
C
 25 a0001c0001t0001
a0001c0001t0005
a0002c0002t0002
others(22): Show 
a0001c0001t0001
a0001c0001t0005
a0002c0002t0002
a0002c0007t0002
a0002c0011t0002
a0003c0003t0001
a0003c0016t0001
a0004c0004t0004
a0004c0004t0006
a0004c0024t0004
a0005c0005t0002
a0006c0006t0002
a0007c0009t0001
a0007c0021t0001
a0008c0008t0001
a0009c0010t0001
a0010c0012t0002
a0011c0020t0001
a0012c0019t0001
a0013c0018t0001
a0014c0015t0007
a0015c0017t0001
a0016c0014t0001
a0017c0022t0004
a0018c0023t0004
 240 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(237): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01099.hp1
HG01099.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
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01433.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01943.hp1
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.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
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04228.hp1
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19011.hp1
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19080.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*184T>C
c.*184T>C
TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 6/6 184 chr16 1242424
chr16:1242466 C
C
 T
T
 19 a0001c0001t0001
a0001c0001t0005
a0003c0003t0001
others(16): Show 
a0001c0001t0001
a0001c0001t0005
a0003c0003t0001
a0003c0016t0001
a0004c0004t0004
a0004c0004t0006
a0004c0024t0004
a0007c0009t0001
a0007c0021t0001
a0008c0008t0001
a0009c0010t0001
a0011c0020t0001
a0012c0019t0001
a0013c0018t0001
a0014c0015t0007
a0015c0017t0001
a0016c0014t0001
a0017c0022t0004
a0018c0023t0004
 153 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(150): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00544.hp1
HG00642.hp2
HG00733.hp1
HG00738.hp1
HG01070.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02300.hp1
HG02451.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18995.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19011.hp1
NA19012.hp2
NA19057.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19080.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
 3_prime_UTR_variant MODIFIER c.*226C>T
c.*226C>T
TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 6/6 226 chr16 1242466
chr16:1242476 A
A
 G
G
 25 a0001c0001t0001
a0001c0001t0005
a0002c0002t0002
others(22): Show 
a0001c0001t0001
a0001c0001t0005
a0002c0002t0002
a0002c0007t0002
a0002c0011t0002
a0003c0003t0001
a0003c0016t0001
a0004c0004t0004
a0004c0004t0006
a0004c0024t0004
a0005c0005t0002
a0006c0006t0002
a0007c0009t0001
a0007c0021t0001
a0008c0008t0001
a0009c0010t0001
a0010c0012t0002
a0011c0020t0001
a0012c0019t0001
a0013c0018t0001
a0014c0015t0007
a0015c0017t0001
a0016c0014t0001
a0017c0022t0004
a0018c0023t0004
 240 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(237): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01099.hp1
HG01099.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
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01433.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01943.hp1
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.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
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04228.hp1
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19011.hp1
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19080.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*236A>G
c.*236A>G
TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 6/6 236 chr16 1242476
chr16:1242493 A
A
 G
G
 19 a0001c0001t0001
a0001c0001t0005
a0003c0003t0001
others(16): Show 
a0001c0001t0001
a0001c0001t0005
a0003c0003t0001
a0003c0016t0001
a0004c0004t0004
a0004c0004t0006
a0004c0024t0004
a0007c0009t0001
a0007c0021t0001
a0008c0008t0001
a0009c0010t0001
a0011c0020t0001
a0012c0019t0001
a0013c0018t0001
a0014c0015t0007
a0015c0017t0001
a0016c0014t0001
a0017c0022t0004
a0018c0023t0004
 153 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(150): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00544.hp1
HG00642.hp2
HG00733.hp1
HG00738.hp1
HG01070.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02300.hp1
HG02451.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18995.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19011.hp1
NA19012.hp2
NA19057.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19080.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
 3_prime_UTR_variant MODIFIER c.*253A>G
c.*253A>G
TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 6/6 253 chr16 1242493
chr16:1242494 T
T
 C
C
 19 a0001c0001t0001
a0001c0001t0005
a0003c0003t0001
others(16): Show 
a0001c0001t0001
a0001c0001t0005
a0003c0003t0001
a0003c0016t0001
a0004c0004t0004
a0004c0004t0006
a0004c0024t0004
a0007c0009t0001
a0007c0021t0001
a0008c0008t0001
a0009c0010t0001
a0011c0020t0001
a0012c0019t0001
a0013c0018t0001
a0014c0015t0007
a0015c0017t0001
a0016c0014t0001
a0017c0022t0004
a0018c0023t0004
 153 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(150): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00544.hp1
HG00642.hp2
HG00733.hp1
HG00738.hp1
HG01070.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02300.hp1
HG02451.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18995.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19011.hp1
NA19012.hp2
NA19057.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19080.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
 3_prime_UTR_variant MODIFIER c.*254T>C
c.*254T>C
TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 6/6 254 chr16 1242494

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
chr16:1240738 C
C
 T
T
 23 a0001c0001t0001g0001
a0001c0001t0001g0006
a0001c0001t0001g0012
others(20): Show 
a0001c0001t0001g0001
a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0015
a0001c0001t0001g0021
a0001c0001t0005g0001
a0003c0003t0001g0004
a0003c0016t0001g0004
a0004c0004t0004g0004
a0004c0024t0004g0004
a0007c0009t0001g0004
a0007c0021t0001g0013
a0008c0008t0001g0001
a0008c0008t0001g0008
a0009c0010t0001g0014
a0011c0020t0001g0001
a0012c0019t0001g0006
a0013c0018t0001g0001
a0014c0015t0007g0013
a0015c0017t0001g0001
a0016c0014t0001g0022
a0017c0022t0004g0004
a0018c0023t0004g0004
 152 HG00280.hp2
HG00323.hp1
HG00423.hp2
others(149): Show 
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00544.hp1
HG00642.hp2
HG00733.hp1
HG00738.hp1
HG01070.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02300.hp1
HG02451.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18995.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19011.hp1
NA19012.hp2
NA19057.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19080.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.-1+10C>T
c.-1+10C>T
TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 1/5 chr16 1240738
chr16:1240762 C
C
 T
T
 15 a0001c0001t0001g0001
a0001c0001t0001g0006
a0001c0001t0001g0015
others(12): Show 
a0001c0001t0001g0001
a0001c0001t0001g0006
a0001c0001t0001g0015
a0001c0001t0001g0021
a0001c0001t0005g0001
a0007c0021t0001g0013
a0008c0008t0001g0001
a0008c0008t0001g0008
a0009c0010t0001g0014
a0011c0020t0001g0001
a0012c0019t0001g0006
a0013c0018t0001g0001
a0014c0015t0007g0013
a0015c0017t0001g0001
a0016c0014t0001g0022
 120 HG00280.hp2
HG00323.hp1
HG00423.hp2
others(117): Show 
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00544.hp1
HG00642.hp2
HG01070.hp1
HG01099.hp2
HG01109.hp2
HG01175.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG02027.hp2
HG02056.hp1
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02300.hp1
HG02451.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03486.hp2
HG03490.hp1
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
NA18612.hp1
NA18612.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18961.hp2
NA18963.hp1
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18971.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp2
NA18981.hp2
NA18982.hp2
NA18985.hp2
NA18986.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18995.hp1
NA18997.hp2
NA18998.hp1
NA18999.hp2
NA19005.hp1
NA19005.hp2
NA19012.hp2
NA19057.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19080.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.-1+34C>T
c.-1+34C>T
TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 1/5 chr16 1240762
chr16:1240770 G
G
 T
T
 1 a0002c0002t0003g0020
a0002c0002t0003g0020
 1 HG00099.hp1
HG00099.hp1
 intron_variant MODIFIER c.-1+42G>T
c.-1+42G>T
TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 1/5 chr16 1240770
chr16:1240817 C
C
 T
T
 2 a0004c0004t0006g0019
a0010c0012t0002g0011
a0004c0004t0006g0019
a0010c0012t0002g0011
 3 HG00280.hp1
HG02109.hp1
HG03516.hp2
HG00280.hp1
HG02109.hp1
HG03516.hp2
 intron_variant MODIFIER c.-1+89C>T
c.-1+89C>T
TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 1/5 chr16 1240817
chr16:1241056 G
G
 A
A
 1 a0002c0011t0002g0016
a0002c0011t0002g0016
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.61+57G>A
c.61+57G>A
TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 2/5 chr16 1241056
chr16:1241074 T
T
 C
C
 26 a0001c0001t0001g0001
a0001c0001t0001g0006
a0001c0001t0001g0012
others(23): Show 
a0001c0001t0001g0001
a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0015
a0001c0001t0001g0021
a0001c0001t0005g0001
a0002c0002t0002g0005
a0002c0007t0002g0005
a0003c0003t0001g0004
a0003c0016t0001g0004
a0004c0004t0004g0004
a0004c0004t0006g0019
a0004c0024t0004g0004
a0007c0009t0001g0004
a0007c0021t0001g0013
a0008c0008t0001g0001
a0008c0008t0001g0008
a0009c0010t0001g0014
a0011c0020t0001g0001
a0012c0019t0001g0006
a0013c0018t0001g0001
a0014c0015t0007g0013
a0015c0017t0001g0001
a0016c0014t0001g0022
a0017c0022t0004g0004
a0018c0023t0004g0004
 166 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(163): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00544.hp1
HG00642.hp2
HG00733.hp1
HG00738.hp1
HG01069.hp1
HG01070.hp1
HG01071.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02896.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03486.hp2
HG03490.hp1
HG03492.hp2
HG03540.hp1
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18995.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19057.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19080.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA19091.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.61+75T>C
c.61+75T>C
TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 2/5 chr16 1241074
chr16:1241075 C
C
 T
T
 23 a0001c0001t0001g0001
a0001c0001t0001g0006
a0001c0001t0001g0012
others(20): Show 
a0001c0001t0001g0001
a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0015
a0001c0001t0001g0021
a0001c0001t0005g0001
a0003c0003t0001g0004
a0003c0016t0001g0004
a0004c0004t0004g0004
a0004c0004t0006g0019
a0004c0024t0004g0004
a0007c0009t0001g0004
a0007c0021t0001g0013
a0008c0008t0001g0001
a0009c0010t0001g0014
a0011c0020t0001g0001
a0012c0019t0001g0006
a0013c0018t0001g0001
a0014c0015t0007g0013
a0015c0017t0001g0001
a0016c0014t0001g0022
a0017c0022t0004g0004
a0018c0023t0004g0004
 150 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(147): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00544.hp1
HG00642.hp2
HG00733.hp1
HG00738.hp1
HG01070.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02300.hp1
HG02451.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03225.hp1
HG03239.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18995.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19011.hp1
NA19012.hp2
NA19057.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19080.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA19091.hp2
NA20300.hp1
NA20752.hp1
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.61+76C>T
c.61+76C>T
TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 2/5 chr16 1241075
chr16:1241101 C
C
 G
G
 8 a0003c0003t0001g0004
a0003c0016t0001g0004
a0004c0004t0004g0004
others(5): Show 
a0003c0003t0001g0004
a0003c0016t0001g0004
a0004c0004t0004g0004
a0004c0004t0006g0019
a0004c0024t0004g0004
a0007c0009t0001g0004
a0017c0022t0004g0004
a0018c0023t0004g0004
 31 HG00280.hp1
HG00733.hp1
HG00738.hp1
others(28): Show 
HG00280.hp1
HG00733.hp1
HG00738.hp1
HG01074.hp2
HG01099.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01517.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG03195.hp2
HG03239.hp1
HG03492.hp2
HG04228.hp1
NA18943.hp2
NA18949.hp1
NA18949.hp2
NA18962.hp2
NA18970.hp2
NA18982.hp1
NA18998.hp2
NA19004.hp1
NA19011.hp1
NA20752.hp1
 intron_variant MODIFIER c.62-52C>G
c.62-52C>G
TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 2/5 chr16 1241101
chr16:1241113 C
C
 G
G
 32 a0001c0001t0001g0001
a0001c0001t0001g0006
a0001c0001t0001g0012
others(29): Show 
a0001c0001t0001g0001
a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0015
a0001c0001t0001g0021
a0001c0001t0005g0001
a0002c0002t0002g0002
a0002c0002t0002g0007
a0002c0002t0002g0009
a0002c0002t0002g0010
a0002c0011t0002g0002
a0002c0011t0002g0016
a0003c0003t0001g0004
a0003c0016t0001g0004
a0004c0004t0004g0004
a0004c0004t0006g0019
a0004c0024t0004g0004
a0005c0005t0002g0002
a0006c0006t0002g0002
a0007c0009t0001g0004
a0007c0021t0001g0013
a0008c0008t0001g0001
a0008c0008t0001g0008
a0009c0010t0001g0014
a0011c0020t0001g0001
a0012c0019t0001g0006
a0013c0018t0001g0001
a0014c0015t0007g0013
a0015c0017t0001g0001
a0016c0014t0001g0022
a0017c0022t0004g0004
a0018c0023t0004g0004
 224 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(221): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01099.hp1
HG01099.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
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01433.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01934.hp2
HG01943.hp1
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02109.hp2
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02970.hp2
HG02976.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04228.hp1
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18963.hp2
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp1
NA18977.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18995.hp1
NA18995.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19011.hp1
NA19012.hp1
NA19012.hp2
NA19030.hp2
NA19057.hp1
NA19057.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19080.hp1
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.62-40C>G
c.62-40C>G
TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 2/5 chr16 1241113
chr16:1241126 C
C
 T
T
 1 a0002c0002t0002g0007
a0002c0002t0002g0007
 4 HG01884.hp2
HG03195.hp1
NA19240.hp2
others(1): Show 
HG01884.hp2
HG03195.hp1
NA19240.hp2
NA21309.hp2
 intron_variant MODIFIER c.62-27C>T
c.62-27C>T
TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 2/5 chr16 1241126
chr16:1241130 T
T
 TCCTGACC
others(5): Show 
TCCTGACCTGGCA
 1 a0002c0002t0003g0017
a0002c0002t0003g0017
 1 HG03927.hp2
HG03927.hp2
 splice_region_variant&intron_variant LOW c.62-18_62-7dupACCTG
others(7): Show 
c.62-18_62-7dupACCTGGCACCTG
TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 2/5 INFO_REALIGN_3_PRIME chr16 1241130
chr16:1241336 G
G
 A
A
 23 a0001c0001t0001g0001
a0001c0001t0001g0006
a0001c0001t0001g0012
others(20): Show 
a0001c0001t0001g0001
a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0015
a0001c0001t0001g0021
a0001c0001t0005g0001
a0003c0003t0001g0004
a0003c0016t0001g0004
a0004c0004t0004g0004
a0004c0024t0004g0004
a0007c0009t0001g0004
a0007c0021t0001g0013
a0008c0008t0001g0001
a0008c0008t0001g0008
a0009c0010t0001g0014
a0011c0020t0001g0001
a0012c0019t0001g0006
a0013c0018t0001g0001
a0014c0015t0007g0013
a0015c0017t0001g0001
a0016c0014t0001g0022
a0017c0022t0004g0004
a0018c0023t0004g0004
 152 HG00280.hp2
HG00323.hp1
HG00423.hp2
others(149): Show 
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00544.hp1
HG00642.hp2
HG00733.hp1
HG00738.hp1
HG01070.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02300.hp1
HG02451.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18995.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19011.hp1
NA19012.hp2
NA19057.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19080.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.233+12G>A
c.233+12G>A
TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 3/5 chr16 1241336
chr16:1241354 G
G
 C
C
 23 a0001c0001t0001g0001
a0001c0001t0001g0006
a0001c0001t0001g0012
others(20): Show 
a0001c0001t0001g0001
a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0015
a0001c0001t0001g0021
a0001c0001t0005g0001
a0003c0003t0001g0004
a0003c0016t0001g0004
a0004c0004t0004g0004
a0004c0004t0006g0019
a0004c0024t0004g0004
a0007c0009t0001g0004
a0007c0021t0001g0013
a0008c0008t0001g0001
a0008c0008t0001g0008
a0009c0010t0001g0014
a0011c0020t0001g0001
a0012c0019t0001g0006
a0013c0018t0001g0001
a0014c0015t0007g0013
a0015c0017t0001g0001
a0017c0022t0004g0004
a0018c0023t0004g0004
 152 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(149): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00544.hp1
HG00642.hp2
HG00733.hp1
HG00738.hp1
HG01070.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02300.hp1
HG02451.hp1
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18995.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19011.hp1
NA19012.hp2
NA19057.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19080.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.233+30G>C
c.233+30G>C
TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 3/5 chr16 1241354
chr16:1241381 C
C
 T
T
 1 a0001c0001t0001g0021
a0001c0001t0001g0021
 1 NA19091.hp2
NA19091.hp2
 intron_variant MODIFIER c.234-53C>T
c.234-53C>T
TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 3/5 chr16 1241381
chr16:1241384 G
G
 C
C
 1 a0002c0002t0002g0009
a0002c0002t0002g0009
 2 HG00735.hp2
HG01167.hp1
HG00735.hp2
HG01167.hp1
 intron_variant MODIFIER c.234-50G>C
c.234-50G>C
TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 3/5 chr16 1241384
chr16:1241716 T
T
 TG
TG
 24 a0001c0001t0001g0001
a0001c0001t0001g0006
a0001c0001t0001g0012
others(21): Show 
a0001c0001t0001g0001
a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0015
a0001c0001t0001g0021
a0001c0001t0005g0001
a0003c0003t0001g0004
a0003c0016t0001g0004
a0004c0004t0004g0004
a0004c0004t0006g0019
a0004c0024t0004g0004
a0007c0009t0001g0004
a0007c0021t0001g0013
a0008c0008t0001g0001
a0008c0008t0001g0008
a0009c0010t0001g0014
a0011c0020t0001g0001
a0012c0019t0001g0006
a0013c0018t0001g0001
a0014c0015t0007g0013
a0015c0017t0001g0001
a0016c0014t0001g0022
a0017c0022t0004g0004
a0018c0023t0004g0004
 153 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(150): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00544.hp1
HG00642.hp2
HG00733.hp1
HG00738.hp1
HG01070.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02300.hp1
HG02451.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18995.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19011.hp1
NA19012.hp2
NA19057.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19080.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.499+19dupG
c.499+19dupG
TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 4/5 INFO_REALIGN_3_PRIME chr16 1241716
chr16:1241742 C
C
 A
A
 1 a0008c0008t0001g0008
a0008c0008t0001g0008
 3 HG03209.hp2
HG03225.hp2
NA20300.hp2
HG03209.hp2
HG03225.hp2
NA20300.hp2
 intron_variant MODIFIER c.499+43C>A
c.499+43C>A
TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 4/5 chr16 1241742
chr16:1241752 CCTGGGCT
others(4): Show 
CCTGGGCTCCCT
 C
C
 24 a0001c0001t0001g0001
a0001c0001t0001g0006
a0001c0001t0001g0012
others(21): Show 
a0001c0001t0001g0001
a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0015
a0001c0001t0001g0021
a0001c0001t0005g0001
a0003c0003t0001g0004
a0003c0016t0001g0004
a0004c0004t0004g0004
a0004c0004t0006g0019
a0004c0024t0004g0004
a0007c0009t0001g0004
a0007c0021t0001g0013
a0008c0008t0001g0001
a0008c0008t0001g0008
a0009c0010t0001g0014
a0011c0020t0001g0001
a0012c0019t0001g0006
a0013c0018t0001g0001
a0014c0015t0007g0013
a0015c0017t0001g0001
a0016c0014t0001g0022
a0017c0022t0004g0004
a0018c0023t0004g0004
 153 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(150): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00544.hp1
HG00642.hp2
HG00733.hp1
HG00738.hp1
HG01070.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02300.hp1
HG02451.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18995.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19011.hp1
NA19012.hp2
NA19057.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19080.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.499+63_500-55delCT
others(9): Show 
c.499+63_500-55delCTCTGGGCTCC
TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 4/5 INFO_REALIGN_3_PRIME chr16 1241752
chr16:1241799 G
G
 C
C
 23 a0001c0001t0001g0001
a0001c0001t0001g0006
a0001c0001t0001g0012
others(20): Show 
a0001c0001t0001g0001
a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0021
a0001c0001t0005g0001
a0003c0003t0001g0004
a0003c0016t0001g0004
a0004c0004t0004g0004
a0004c0004t0006g0019
a0004c0024t0004g0004
a0007c0009t0001g0004
a0007c0021t0001g0013
a0008c0008t0001g0001
a0008c0008t0001g0008
a0009c0010t0001g0014
a0011c0020t0001g0001
a0012c0019t0001g0006
a0013c0018t0001g0001
a0014c0015t0007g0013
a0015c0017t0001g0001
a0016c0014t0001g0022
a0017c0022t0004g0004
a0018c0023t0004g0004
 151 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(148): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00544.hp1
HG00642.hp2
HG00733.hp1
HG00738.hp1
HG01070.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02300.hp1
HG02451.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18953.hp2
NA18959.hp1
NA18960.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18995.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19011.hp1
NA19012.hp2
NA19057.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19080.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.500-28G>C
c.500-28G>C
TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 4/5 chr16 1241799
chr16:1242001 C
C
 T
T
 1 a0009c0010t0001g0014
a0009c0010t0001g0014
 2 NA18950.hp2
NA19080.hp1
NA18950.hp2
NA19080.hp1
 intron_variant MODIFIER c.663+11C>T
c.663+11C>T
TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 5/5 chr16 1242001
chr16:1242002 C
C
 G
G
 26 a0001c0001t0001g0001
a0001c0001t0001g0006
a0001c0001t0001g0012
others(23): Show 
a0001c0001t0001g0001
a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0015
a0001c0001t0001g0021
a0001c0001t0005g0001
a0002c0002t0002g0010
a0002c0002t0003g0018
a0003c0003t0001g0004
a0003c0016t0001g0004
a0004c0004t0004g0004
a0004c0004t0006g0019
a0004c0024t0004g0004
a0007c0009t0001g0004
a0007c0021t0001g0013
a0008c0008t0001g0001
a0008c0008t0001g0008
a0009c0010t0001g0014
a0011c0020t0001g0001
a0012c0019t0001g0006
a0013c0018t0001g0001
a0014c0015t0007g0013
a0015c0017t0001g0001
a0016c0014t0001g0022
a0017c0022t0004g0004
a0018c0023t0004g0004
 156 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(153): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00738.hp1
HG01070.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02300.hp1
HG02451.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18995.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19011.hp1
NA19012.hp2
NA19057.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19080.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.663+12C>G
c.663+12C>G
TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 5/5 chr16 1242002
chr16:1242014 C
C
 A
A
 2 a0001c0001t0001g0006
a0012c0019t0001g0006
a0001c0001t0001g0006
a0012c0019t0001g0006
 11 HG02056.hp1
NA18945.hp1
NA18945.hp2
others(8): Show 
HG02056.hp1
NA18945.hp1
NA18945.hp2
NA18967.hp1
NA18986.hp1
NA18991.hp1
NA18999.hp2
NA19005.hp2
NA19070.hp1
NA19086.hp2
NA19087.hp2
 intron_variant MODIFIER c.663+24C>A
c.663+24C>A
TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 5/5 chr16 1242014
chr16:1242018 G
G
 C
C
 1 a0002c0002t0003g0017
a0002c0002t0003g0017
 1 HG03927.hp2
HG03927.hp2
 intron_variant MODIFIER c.663+28G>C
c.663+28G>C
TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 5/5 chr16 1242018
chr16:1242020 C
C
 A
A
 24 a0001c0001t0001g0001
a0001c0001t0001g0006
a0001c0001t0001g0012
others(21): Show 
a0001c0001t0001g0001
a0001c0001t0001g0006
a0001c0001t0001g0012
a0001c0001t0001g0015
a0001c0001t0001g0021
a0001c0001t0005g0001
a0003c0003t0001g0004
a0003c0016t0001g0004
a0004c0004t0004g0004
a0004c0004t0006g0019
a0004c0024t0004g0004
a0007c0009t0001g0004
a0007c0021t0001g0013
a0008c0008t0001g0001
a0008c0008t0001g0008
a0009c0010t0001g0014
a0011c0020t0001g0001
a0012c0019t0001g0006
a0013c0018t0001g0001
a0014c0015t0007g0013
a0015c0017t0001g0001
a0016c0014t0001g0022
a0017c0022t0004g0004
a0018c0023t0004g0004
 153 HG00280.hp1
HG00280.hp2
HG00323.hp1
others(150): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00544.hp1
HG00642.hp2
HG00733.hp1
HG00738.hp1
HG01070.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02258.hp1
HG02300.hp1
HG02451.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02970.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG04228.hp1
NA18612.hp1
NA18612.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18961.hp2
NA18962.hp2
NA18963.hp1
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18977.hp2
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18995.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19011.hp1
NA19012.hp2
NA19057.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19080.hp1
NA19082.hp1
NA19082.hp2
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.663+30C>A
c.663+30C>A
TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 5/5 chr16 1242020
chr16:1242027 C
C
 T
T
 11 a0003c0003t0001g0004
a0003c0016t0001g0004
a0004c0004t0004g0004
others(8): Show 
a0003c0003t0001g0004
a0003c0016t0001g0004
a0004c0004t0004g0004
a0004c0004t0006g0019
a0004c0024t0004g0004
a0007c0009t0001g0004
a0007c0021t0001g0013
a0008c0008t0001g0008
a0014c0015t0007g0013
a0017c0022t0004g0004
a0018c0023t0004g0004
 36 HG00280.hp1
HG00733.hp1
HG00738.hp1
others(33): Show 
HG00280.hp1
HG00733.hp1
HG00738.hp1
HG01074.hp2
HG01099.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01517.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02451.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03492.hp2
HG04228.hp1
NA18943.hp2
NA18949.hp1
NA18949.hp2
NA18962.hp2
NA18970.hp2
NA18982.hp1
NA18998.hp2
NA19004.hp1
NA19011.hp1
NA19083.hp2
NA20300.hp2
NA20752.hp1
 intron_variant MODIFIER c.663+37C>T
c.663+37C>T
TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 5/5 chr16 1242027
chr16:1242038 A
A
 G
G
 11 a0003c0003t0001g0004
a0003c0016t0001g0004
a0004c0004t0004g0004
others(8): Show 
a0003c0003t0001g0004
a0003c0016t0001g0004
a0004c0004t0004g0004
a0004c0004t0006g0019
a0004c0024t0004g0004
a0007c0009t0001g0004
a0007c0021t0001g0013
a0008c0008t0001g0008
a0014c0015t0007g0013
a0017c0022t0004g0004
a0018c0023t0004g0004
 36 HG00280.hp1
HG00733.hp1
HG00738.hp1
others(33): Show 
HG00280.hp1
HG00733.hp1
HG00738.hp1
HG01074.hp2
HG01099.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01517.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02451.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03492.hp2
HG04228.hp1
NA18943.hp2
NA18949.hp1
NA18949.hp2
NA18962.hp2
NA18970.hp2
NA18982.hp1
NA18998.hp2
NA19004.hp1
NA19011.hp1
NA19083.hp2
NA20300.hp2
NA20752.hp1
 intron_variant MODIFIER c.664-38A>G
c.664-38A>G
TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 5/5 chr16 1242038
chr16:1242041 C
C
 T
T
 11 a0003c0003t0001g0004
a0003c0016t0001g0004
a0004c0004t0004g0004
others(8): Show 
a0003c0003t0001g0004
a0003c0016t0001g0004
a0004c0004t0004g0004
a0004c0004t0006g0019
a0004c0024t0004g0004
a0007c0009t0001g0004
a0007c0021t0001g0013
a0008c0008t0001g0008
a0014c0015t0007g0013
a0017c0022t0004g0004
a0018c0023t0004g0004
 36 HG00280.hp1
HG00733.hp1
HG00738.hp1
others(33): Show 
HG00280.hp1
HG00733.hp1
HG00738.hp1
HG01074.hp2
HG01099.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01517.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02451.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03492.hp2
HG04228.hp1
NA18943.hp2
NA18949.hp1
NA18949.hp2
NA18962.hp2
NA18970.hp2
NA18982.hp1
NA18998.hp2
NA19004.hp1
NA19011.hp1
NA19083.hp2
NA20300.hp2
NA20752.hp1
 intron_variant MODIFIER c.664-35C>T
c.664-35C>T
TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 5/5 chr16 1242041
chr16:1242045 T
T
 G
G
 11 a0003c0003t0001g0004
a0003c0016t0001g0004
a0004c0004t0004g0004
others(8): Show 
a0003c0003t0001g0004
a0003c0016t0001g0004
a0004c0004t0004g0004
a0004c0004t0006g0019
a0004c0024t0004g0004
a0007c0009t0001g0004
a0007c0021t0001g0013
a0008c0008t0001g0008
a0014c0015t0007g0013
a0017c0022t0004g0004
a0018c0023t0004g0004
 36 HG00280.hp1
HG00733.hp1
HG00738.hp1
others(33): Show 
HG00280.hp1
HG00733.hp1
HG00738.hp1
HG01074.hp2
HG01099.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01517.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02451.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03492.hp2
HG04228.hp1
NA18943.hp2
NA18949.hp1
NA18949.hp2
NA18962.hp2
NA18970.hp2
NA18982.hp1
NA18998.hp2
NA19004.hp1
NA19011.hp1
NA19083.hp2
NA20300.hp2
NA20752.hp1
 intron_variant MODIFIER c.664-31T>G
c.664-31T>G
TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 5/5 chr16 1242045
chr16:1242050 C
C
 T
T
 11 a0003c0003t0001g0004
a0003c0016t0001g0004
a0004c0004t0004g0004
others(8): Show 
a0003c0003t0001g0004
a0003c0016t0001g0004
a0004c0004t0004g0004
a0004c0004t0006g0019
a0004c0024t0004g0004
a0007c0009t0001g0004
a0007c0021t0001g0013
a0008c0008t0001g0008
a0014c0015t0007g0013
a0017c0022t0004g0004
a0018c0023t0004g0004
 36 HG00280.hp1
HG00733.hp1
HG00738.hp1
others(33): Show 
HG00280.hp1
HG00733.hp1
HG00738.hp1
HG01074.hp2
HG01099.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01169.hp2
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01517.hp2
HG02027.hp1
HG02074.hp1
HG02074.hp2
HG02451.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03492.hp2
HG04228.hp1
NA18943.hp2
NA18949.hp1
NA18949.hp2
NA18962.hp2
NA18970.hp2
NA18982.hp1
NA18998.hp2
NA19004.hp1
NA19011.hp1
NA19083.hp2
NA20300.hp2
NA20752.hp1
 intron_variant MODIFIER c.664-26C>T
c.664-26C>T
TPSAB1 ENSG00000172236.19 transcript ENST00000338844.8 protein_coding 5/5 chr16 1242050

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

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

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

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