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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

  Error connecting to IGV?   EIF2B1_chr12_123615406_123638686  EIF2B1_chr12_123615406_123638686 (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 1967
ensemblid ENSG00000111361.13
hgncid 3257
symbol EIF2B1
name eukaryotic translation initiation factor 2B subunit alpha
refseq_nuc NM_001414.4
refseq_prot NP_001405.1
ensembl_nuc ENST00000424014.7
ensembl_prot ENSP00000416250.2
mane_status MANE Select
chr chr12
start 123620406
end 123633686
strand -
ver v1.2
region chr12:123620406-123633686
region5000 chr12:123615406-123638686
regionname0 EIF2B1_chr12_123620406_123633686
regionname5000 EIF2B1_chr12_123615406_123638686

ahapid grch38/
chm13v2
alen total AFR AMR EAS EUR SAS JPT regionname genename aa chr start end
a0001 1/1 305 321 93 62 110 18 36 72 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0002 0/0 305 1 1 0 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686

chapid grch38/
chm13v2
alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
c0001 1/1 918 315 89 62 108 18 36 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
c0002 0/0 918 4 4 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
c0003 0/0 918 2 0 0 2 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
c0004 0/0 918 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686

thapid grch38
chm13v2
tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
t0001 0/0 1480 38 3 12 17 1 5 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0002 0/0 1482 33 5 9 15 1 3 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0003 0/0 1448 29 7 9 2 2 9 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0004 0/1 1478 23 4 7 9 2 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0005 0/0 1476 17 3 0 12 2 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0006 0/0 1488 16 2 2 8 2 2 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0007 0/0 1486 15 0 2 10 2 1 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0008 0/0 1484 10 0 1 4 0 5 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0009 0/0 1472 8 0 2 5 0 1 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0010 0/0 1476 7 3 1 2 1 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0011 0/0 1470 6 6 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0012 0/0 1474 5 1 0 4 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0013 0/0 1478 5 2 0 0 0 3 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0014 0/0 1480 4 3 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0015 0/0 1490 4 1 0 2 0 1 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0016 0/0 1482 4 2 1 0 0 1 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0017 0/0 1480 4 4 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0018 0/0 1472 4 2 2 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0019 0/0 1452 3 0 0 3 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0020 0/0 1464 3 0 1 2 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0021 0/0 1476 3 0 0 0 3 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0022 0/0 1474 3 1 1 0 0 1 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0023 0/0 1486 3 0 1 2 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0024 0/0 1482 3 3 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0025 0/0 1470 3 0 3 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0026 0/0 1470 2 2 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0027 0/0 1480 2 2 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0028 0/0 1448 2 2 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0029 0/0 1478 2 0 0 2 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0030 0/0 1482 2 2 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0031 0/0 1480 2 0 1 0 1 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0032 0/0 1478 2 2 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0033 0/0 1480 2 1 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0034 0/0 1474 2 2 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0035 0/0 1476 2 2 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0036 0/0 1472 2 1 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0037 0/0 1480 2 0 0 2 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0038 0/0 1486 2 0 0 2 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0039 0/0 1462 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0040 0/0 1476 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0041 0/0 1478 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0042 0/0 1482 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0043 0/0 1474 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0044 0/0 1480 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0045 0/0 1468 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0046 0/0 1446 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0047 0/0 1480 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0048 0/0 1458 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0049 0/0 1468 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0050 0/0 1470 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0051 0/0 1477 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0052 0/0 1479 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0053 0/0 1481 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0054 0/0 1483 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0055 0/0 1494 1 0 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0056 0/0 1496 1 0 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0057 0/0 1464 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0058 0/0 1476 1 0 0 0 1 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0059 0/0 1472 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0060 0/0 1484 1 0 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0061 0/0 1472 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0062 0/0 1476 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0063 0/0 1480 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0064 0/0 1484 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0065 0/0 1494 1 0 0 0 0 1 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0066 1/0 1480 1 0 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0067 0/0 1474 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0068 0/0 1480 1 0 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0069 0/0 1480 1 0 0 0 0 1 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0070 0/0 1490 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0071 0/0 1472 1 0 0 0 0 1 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0072 0/0 1482 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0073 0/0 1482 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0074 0/0 1476 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0075 0/0 1480 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0076 0/0 1482 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0077 0/0 1486 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0078 0/0 1466 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0079 0/0 1484 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0080 0/0 1490 1 0 0 0 0 1 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
t0081 0/0 1460 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686

ghapid grch38/
chm13v2
total AFR AMR EAS EUR SAS regionname genename chr start end
g0001 0/0 18 1 6 9 1 1 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0002 0/0 18 1 6 8 1 2 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0003 0/0 12 0 5 1 0 6 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0004 0/0 11 2 2 3 2 2 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0005 0/0 10 2 0 6 2 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0006 0/1 9 2 1 3 2 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0007 0/0 8 0 2 4 2 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0008 0/0 5 0 1 2 0 2 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0009 0/0 5 0 1 1 0 3 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0010 0/0 4 0 0 3 0 1 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0011 0/0 3 3 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0012 0/0 3 0 0 3 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0013 0/0 3 0 1 2 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0014 0/0 3 0 0 0 1 2 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0015 0/0 3 0 3 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0016 0/0 3 0 0 0 3 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0017 0/0 3 3 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0018 0/0 2 2 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0019 0/0 2 2 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0020 0/0 2 0 0 1 1 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0021 0/0 2 0 0 2 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0022 0/0 2 1 0 0 0 1 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0023 0/0 2 0 0 0 0 2 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0024 0/0 2 0 0 2 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0025 0/0 2 2 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0026 0/0 2 2 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0027 0/0 2 0 0 2 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0028 0/0 2 2 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0029 0/0 2 1 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0030 0/0 2 0 2 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0031 0/0 2 0 1 0 0 1 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0032 0/0 2 2 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0033 0/0 2 0 2 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0034 0/0 2 2 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0035 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0036 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0037 0/0 1 0 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0038 0/0 1 0 0 0 0 1 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0039 0/0 1 0 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0040 0/0 1 0 0 0 0 1 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0041 0/0 1 0 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0042 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0043 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0044 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0045 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0046 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0047 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0048 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0049 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0050 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0051 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0052 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0053 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0054 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0055 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0056 0/0 1 0 0 0 0 1 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0057 0/0 1 0 0 0 0 1 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0058 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0059 0/0 1 0 0 0 0 1 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0060 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0061 0/0 1 0 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0062 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0063 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0064 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0065 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0066 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0067 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0068 0/0 1 0 0 0 0 1 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0069 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0070 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0071 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0072 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0073 0/0 1 0 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0074 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0075 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0076 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0077 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0078 0/0 1 0 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0079 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0080 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0081 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0082 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0083 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0084 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0085 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0086 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0087 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0088 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0089 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0090 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0091 0/0 1 0 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0092 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0093 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0094 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0095 0/0 1 0 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0096 0/0 1 0 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0097 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0098 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0099 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0100 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0101 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0102 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0103 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0104 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0105 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0106 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0107 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0108 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0109 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0110 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0111 0/0 1 0 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0112 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0113 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0114 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0115 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0116 0/0 1 0 0 0 0 1 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0117 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0118 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0119 0/0 1 0 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0120 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0121 0/0 1 0 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0122 0/0 1 0 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0123 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0124 0/0 1 0 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0125 1/0 1 0 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0126 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0127 0/0 1 0 0 0 0 1 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0128 0/0 1 0 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0129 0/0 1 0 0 0 0 1 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0130 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0131 0/0 1 0 0 0 0 1 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0132 0/0 1 0 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0133 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0134 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0135 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0136 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0137 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0138 0/0 1 0 0 0 0 1 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0139 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0140 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0141 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0142 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0143 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0144 0/0 1 0 0 0 0 1 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0145 0/0 1 0 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0146 0/0 1 0 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0147 0/0 1 0 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0148 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0149 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0150 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0151 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0152 0/0 1 0 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0153 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0154 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0155 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0156 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0157 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0158 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0159 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0160 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0161 0/0 1 0 0 0 0 1 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0162 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0163 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0164 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0165 0/0 1 0 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0166 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0167 0/0 1 0 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0168 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0169 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0170 0/0 1 0 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0171 0/0 1 0 0 0 1 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0172 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0173 0/0 1 0 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0174 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0175 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0176 0/0 1 0 0 0 1 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0177 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0178 0/0 1 0 0 0 1 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0179 0/0 1 0 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0180 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0181 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0182 0/0 1 0 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0183 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0184 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0185 0/0 1 0 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0186 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0187 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0188 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0189 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0190 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0191 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0192 0/0 1 0 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0193 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0194 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0195 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0196 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0197 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0198 0/0 1 0 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0199 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0200 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
g0201 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686

achapid grch38/
chm13v2
alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
a0001c0001 1/1 918 315 89 62 108 18 36 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0002 0/0 918 4 4 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0003 0/0 918 2 0 0 2 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0002c0004 0/0 918 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686

acthapid grch38
chm13v2
tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
a0001c0001t0001 0/0 2397 38 3 12 17 1 5 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0002 0/0 2399 31 4 9 14 1 3 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0003 0/0 2365 29 7 9 2 2 9 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0004 0/1 2395 23 4 7 9 2 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0005 0/0 2393 17 3 0 12 2 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0006 0/0 2405 16 2 2 8 2 2 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0007 0/0 2403 15 0 2 10 2 1 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0008 0/0 2401 10 0 1 4 0 5 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0009 0/0 2389 8 0 2 5 0 1 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0010 0/0 2393 7 3 1 2 1 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0011 0/0 2387 6 6 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0012 0/0 2391 5 1 0 4 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0013 0/0 2395 5 2 0 0 0 3 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0014 0/0 2397 4 3 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0015 0/0 2407 3 1 0 1 0 1 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0016 0/0 2399 4 2 1 0 0 1 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0017 0/0 2397 4 4 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0018 0/0 2389 4 2 2 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0019 0/0 2369 3 0 0 3 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0020 0/0 2381 3 0 1 2 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0021 0/0 2393 3 0 0 0 3 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0022 0/0 2391 3 1 1 0 0 1 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0023 0/0 2403 3 0 1 2 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0024 0/0 2399 3 3 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0025 0/0 2387 3 0 3 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0026 0/0 2387 2 2 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0027 0/0 2397 2 2 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0028 0/0 2365 2 2 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0029 0/0 2395 2 0 0 2 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0030 0/0 2399 2 2 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0031 0/0 2397 2 0 1 0 1 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0032 0/0 2395 2 2 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0033 0/0 2397 2 1 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0034 0/0 2391 2 2 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0035 0/0 2393 2 2 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0036 0/0 2389 2 1 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0037 0/0 2397 2 0 0 2 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0038 0/0 2403 2 0 0 2 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0039 0/0 2379 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0040 0/0 2393 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0041 0/0 2395 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0042 0/0 2399 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0043 0/0 2391 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0044 0/0 2397 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0045 0/0 2385 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0046 0/0 2363 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0047 0/0 2397 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0048 0/0 2375 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0049 0/0 2385 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0050 0/0 2387 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0055 0/0 2411 1 0 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0056 0/0 2413 1 0 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0057 0/0 2381 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0058 0/0 2393 1 0 0 0 1 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0059 0/0 2389 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0060 0/0 2401 1 0 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0061 0/0 2389 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0062 0/0 2393 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0063 0/0 2397 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0064 0/0 2401 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0065 0/0 2411 1 0 0 0 0 1 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0066 1/0 2397 1 0 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0067 0/0 2391 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0068 0/0 2397 1 0 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0069 0/0 2397 1 0 0 0 0 1 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0070 0/0 2407 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0071 0/0 2389 1 0 0 0 0 1 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0072 0/0 2399 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0073 0/0 2399 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0074 0/0 2393 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0075 0/0 2397 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0076 0/0 2399 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0077 0/0 2403 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0078 0/0 2383 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0079 0/0 2401 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0080 0/0 2407 1 0 0 0 0 1 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0001t0081 0/0 2377 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0002t0051 0/0 2394 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0002t0052 0/0 2396 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0002t0053 0/0 2398 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0002t0054 0/0 2400 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0003t0002 0/0 2399 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0001c0003t0015 0/0 2407 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686
a0002c0004t0002 0/0 2399 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 copy fasta chr12 123615406 123638686

actghapid grch38/
chm13v2
total AFR AMR EAS EUR SAS regionname genename chr start end
a0001c0001t0001g0001 0/0 18 1 6 9 1 1 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0001g0008 0/0 5 0 1 2 0 2 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0001g0015 0/0 3 0 3 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0001g0028 0/0 2 2 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0001g0085 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0001g0102 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0001g0111 0/0 1 0 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0001g0112 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0001g0119 0/0 1 0 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0001g0131 0/0 1 0 0 0 0 1 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0001g0138 0/0 1 0 0 0 0 1 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0001g0148 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0001g0168 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0001g0175 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0002g0002 0/0 18 1 6 8 1 2 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0002g0027 0/0 2 0 0 2 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0002g0030 0/0 2 0 2 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0002g0103 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0002g0113 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0002g0116 0/0 1 0 0 0 0 1 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0002g0118 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0002g0128 0/0 1 0 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0002g0158 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0002g0159 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0002g0160 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0002g0172 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0003g0003 0/0 12 0 5 1 0 6 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0003g0014 0/0 3 0 0 0 1 2 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0003g0017 0/0 3 3 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0003g0031 0/0 2 0 1 0 0 1 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0003g0034 0/0 2 2 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0003g0171 0/0 1 0 0 0 1 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0003g0173 0/0 1 0 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0003g0177 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0003g0179 0/0 1 0 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0003g0185 0/0 1 0 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0003g0199 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0003g0200 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0004g0006 0/1 9 2 1 3 2 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0004g0024 0/0 2 0 0 2 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0004g0092 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0004g0095 0/0 1 0 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0004g0109 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0004g0114 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0004g0132 0/0 1 0 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0004g0134 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0004g0143 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0004g0146 0/0 1 0 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0004g0147 0/0 1 0 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0004g0152 0/0 1 0 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0004g0167 0/0 1 0 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0004g0174 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0005g0005 0/0 10 2 0 6 2 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0005g0086 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0005g0101 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0005g0105 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0005g0137 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0005g0142 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0005g0149 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0005g0151 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0006g0004 0/0 11 2 2 3 2 2 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0006g0088 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0006g0110 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0006g0136 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0006g0139 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0006g0169 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0007g0007 0/0 8 0 2 4 2 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0007g0082 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0007g0087 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0007g0100 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0007g0106 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0007g0108 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0007g0135 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0007g0161 0/0 1 0 0 0 0 1 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0008g0009 0/0 5 0 1 1 0 3 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0008g0115 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0008g0126 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0008g0127 0/0 1 0 0 0 0 1 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0008g0129 0/0 1 0 0 0 0 1 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0008g0140 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0009g0010 0/0 4 0 0 3 0 1 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0009g0091 0/0 1 0 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0009g0141 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0009g0145 0/0 1 0 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0009g0150 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0010g0020 0/0 2 0 0 1 1 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0010g0060 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0010g0067 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0010g0070 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0010g0130 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0010g0198 0/0 1 0 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0011g0019 0/0 2 2 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0011g0032 0/0 2 2 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0011g0049 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0011g0050 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0012g0029 0/0 2 1 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0012g0083 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0012g0084 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0012g0117 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0013g0023 0/0 2 0 0 0 0 2 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0013g0056 0/0 1 0 0 0 0 1 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0013g0066 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0013g0196 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0014g0011 0/0 3 3 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0014g0096 0/0 1 0 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0015g0120 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0015g0144 0/0 1 0 0 0 0 1 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0015g0157 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0016g0057 0/0 1 0 0 0 0 1 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0016g0058 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0016g0078 0/0 1 0 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0016g0197 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0017g0018 0/0 2 2 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0017g0042 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0017g0047 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0018g0039 0/0 1 0 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0018g0041 0/0 1 0 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0018g0051 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0018g0183 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0019g0012 0/0 3 0 0 3 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0020g0013 0/0 3 0 1 2 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0021g0016 0/0 3 0 0 0 3 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0022g0022 0/0 2 1 0 0 0 1 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0022g0073 0/0 1 0 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0023g0062 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0023g0072 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0023g0165 0/0 1 0 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0024g0044 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0024g0048 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0024g0163 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0025g0033 0/0 2 0 2 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0025g0182 0/0 1 0 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0026g0025 0/0 2 2 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0027g0026 0/0 2 2 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0028g0190 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0028g0191 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0029g0094 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0029g0133 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0030g0180 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0030g0181 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0031g0170 0/0 1 0 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0031g0178 0/0 1 0 0 0 1 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0032g0074 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0032g0077 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0033g0061 0/0 1 0 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0033g0089 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0034g0079 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0034g0099 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0035g0045 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0035g0162 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0036g0192 0/0 1 0 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0036g0194 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0037g0021 0/0 2 0 0 2 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0038g0065 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0038g0166 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0039g0055 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0040g0052 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0041g0097 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0042g0098 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0043g0107 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0044g0104 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0045g0069 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0046g0187 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0047g0186 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0048g0188 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0049g0093 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0050g0090 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0055g0121 0/0 1 0 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0056g0122 0/0 1 0 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0057g0036 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0058g0176 0/0 1 0 0 0 1 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0059g0123 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0060g0124 0/0 1 0 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0061g0075 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0062g0076 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0063g0164 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0064g0071 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0065g0068 0/0 1 0 0 0 0 1 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0066g0125 1/0 1 0 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0067g0054 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0068g0037 0/0 1 0 1 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0069g0038 0/0 1 0 0 0 0 1 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0070g0046 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0071g0040 0/0 1 0 0 0 0 1 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0072g0053 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0073g0043 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0074g0193 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0075g0189 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0076g0195 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0077g0035 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0078g0063 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0079g0064 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0080g0059 0/0 1 0 0 0 0 1 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0001t0081g0201 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0002t0051g0154 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0002t0052g0184 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0002t0053g0155 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0002t0054g0156 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0003t0002g0080 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0001c0003t0015g0081 0/0 1 0 0 1 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
a0002c0004t0002g0153 0/0 1 1 0 0 0 0 EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686

sampleid ID
haplotypeid
ahapid chapid thapid ghapid gpopname popname regionname genename chr start end
HG00099 hp1 a0001 c0001 t0005 g0005 EUR GBR EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG00099 hp2 a0001 c0001 t0031 g0178 EUR GBR EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG00140 hp1 a0001 c0001 t0021 g0016 EUR GBR EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG00140 hp2 a0001 c0001 t0002 g0002 EUR GBR EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG00280 hp1 a0001 c0001 t0004 g0006 EUR FIN EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG00280 hp2 a0001 c0001 t0010 g0020 EUR FIN EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG00323 hp1 a0001 c0001 t0058 g0176 EUR FIN EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG00323 hp2 a0001 c0001 t0006 g0004 EUR FIN EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG00408 hp1 a0001 c0001 t0037 g0021 EAS CHS EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG00408 hp2 a0001 c0001 t0002 g0002 EAS CHS EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG00423 hp1 a0001 c0001 t0001 g0001 EAS CHS EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG00423 hp2 a0001 c0001 t0002 g0113 EAS CHS EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG00438 hp1 a0001 c0001 t0019 g0012 EAS CHS EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG00438 hp2 a0001 c0001 t0005 g0005 EAS CHS EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG00544 hp1 a0001 c0001 t0059 g0123 EAS CHS EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG00544 hp2 a0001 c0001 t0006 g0088 EAS CHS EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG00558 hp1 a0001 c0001 t0002 g0027 EAS CHS EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG00558 hp2 a0001 c0001 t0008 g0140 EAS CHS EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG00597 hp1 a0001 c0001 t0012 g0083 EAS CHS EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG00597 hp2 a0001 c0001 t0007 g0108 EAS CHS EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG00621 hp1 a0001 c0001 t0002 g0118 EAS CHS EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG00621 hp2 a0001 c0001 t0023 g0072 EAS CHS EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG00673 hp1 a0001 c0001 t0023 g0062 EAS CHS EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG00673 hp2 a0001 c0001 t0007 g0135 EAS CHS EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG00733 hp1 a0001 c0001 t0006 g0004 AMR PUR EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG00733 hp2 a0001 c0001 t0003 g0003 AMR PUR EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG00735 hp1 a0001 c0001 t0055 g0121 AMR PUR EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG00735 hp2 a0001 c0001 t0003 g0179 AMR PUR EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG00738 hp1 a0001 c0001 t0007 g0007 AMR PUR EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG00738 hp2 a0001 c0001 t0003 g0003 AMR PUR EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG00741 hp1 a0001 c0001 t0004 g0006 AMR PUR EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG00741 hp2 a0001 c0001 t0001 g0111 AMR PUR EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG01070 hp1 a0001 c0001 t0002 g0030 AMR PUR EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG01070 hp2 a0001 c0001 t0004 g0095 AMR PUR EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG01071 hp1 a0001 c0001 t0006 g0004 AMR PUR EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG01071 hp2 a0001 c0001 t0002 g0030 AMR PUR EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG01074 hp1 a0001 c0001 t0003 g0003 AMR PUR EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG01074 hp2 a0001 c0001 t0033 g0061 AMR PUR EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG01081 hp1 a0001 c0001 t0022 g0073 AMR PUR EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG01081 hp2 a0001 c0001 t0003 g0003 AMR PUR EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG01099 hp1 a0001 c0001 t0010 g0198 AMR PUR EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG01099 hp2 a0001 c0001 t0016 g0078 AMR PUR EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG01106 hp1 a0001 c0001 t0002 g0002 AMR PUR EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG01106 hp2 a0001 c0001 t0004 g0132 AMR PUR EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG01109 hp1 a0001 c0001 t0018 g0039 AMR PUR EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG01109 hp2 a0001 c0001 t0014 g0096 AMR PUR EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG01168 hp1 a0001 c0001 t0031 g0170 AMR PUR EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG01168 hp2 a0001 c0001 t0056 g0122 AMR PUR EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG01175 hp1 a0001 c0001 t0003 g0185 AMR PUR EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG01175 hp2 a0001 c0001 t0023 g0165 AMR PUR EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG01243 hp1 a0001 c0001 t0025 g0182 AMR PUR EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG01243 hp2 a0001 c0001 t0068 g0037 AMR PUR EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG01255 hp1 a0001 c0001 t0003 g0003 AMR CLM EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG01255 hp2 a0001 c0001 t0001 g0001 AMR CLM EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG01256 hp1 a0001 c0001 t0002 g0128 AMR CLM EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG01256 hp2 a0001 c0001 t0018 g0041 AMR CLM EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG01257 hp1 a0001 c0001 t0001 g0015 AMR CLM EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG01257 hp2 a0001 c0001 t0001 g0001 AMR CLM EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG01258 hp1 a0001 c0001 t0001 g0001 AMR CLM EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG01258 hp2 a0001 c0001 t0002 g0002 AMR CLM EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG01346 hp1 a0001 c0001 t0008 g0009 AMR CLM EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG01346 hp2 a0001 c0001 t0025 g0033 AMR CLM EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG01358 hp1 a0001 c0001 t0001 g0015 AMR CLM EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG01358 hp2 a0001 c0001 t0001 g0008 AMR CLM EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG01361 hp1 a0001 c0001 t0009 g0145 AMR CLM EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG01361 hp2 a0001 c0001 t0002 g0002 AMR CLM EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG01433 hp1 a0001 c0001 t0060 g0124 AMR CLM EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG01433 hp2 a0001 c0001 t0004 g0146 AMR CLM EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG01515 hp1 a0001 c0001 t0001 g0001 EUR IBS EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG01515 hp2 a0001 c0001 t0021 g0016 EUR IBS EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG01516 hp1 a0001 c0001 t0003 g0014 EUR IBS EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG01516 hp2 a0001 c0001 t0007 g0007 EUR IBS EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG01517 hp1 a0001 c0001 t0021 g0016 EUR IBS EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG01517 hp2 a0001 c0001 t0006 g0004 EUR IBS EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG01884 hp1 a0001 c0001 t0030 g0181 AFR ACB EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG01884 hp2 a0001 c0001 t0006 g0004 AFR ACB EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG01891 hp1 a0001 c0001 t0033 g0089 AFR ACB EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG01891 hp2 a0001 c0001 t0032 g0077 AFR ACB EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG01928 hp1 a0001 c0001 t0004 g0147 AMR PEL EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG01928 hp2 a0001 c0001 t0001 g0001 AMR PEL EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG01934 hp1 a0001 c0001 t0001 g0001 AMR PEL EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG01934 hp2 a0001 c0001 t0003 g0031 AMR PEL EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG01943 hp1 a0001 c0001 t0002 g0002 AMR PEL EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG01943 hp2 a0001 c0001 t0001 g0001 AMR PEL EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG01975 hp1 a0001 c0001 t0025 g0033 AMR PEL EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG01975 hp2 a0001 c0001 t0002 g0002 AMR PEL EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG01978 hp1 a0001 c0001 t0036 g0192 AMR PEL EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG01978 hp2 a0001 c0001 t0004 g0152 AMR PEL EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG01981 hp1 a0001 c0001 t0009 g0091 AMR PEL EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG01981 hp2 a0001 c0001 t0001 g0015 AMR PEL EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02015 hp1 a0001 c0001 t0012 g0117 EAS KHV EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02015 hp2 a0001 c0001 t0064 g0071 EAS KHV EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02027 hp1 a0001 c0001 t0001 g0001 EAS KHV EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02027 hp2 a0001 c0001 t0004 g0174 EAS KHV EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02055 hp1 a0001 c0001 t0014 g0011 AFR ACB EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02055 hp2 a0002 c0004 t0002 g0153 AFR ACB EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02056 hp1 a0001 c0001 t0049 g0093 EAS KHV EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02056 hp2 a0001 c0001 t0006 g0004 EAS KHV EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02071 hp1 a0001 c0001 t0009 g0010 EAS KHV EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02071 hp2 a0001 c0001 t0019 g0012 EAS KHV EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02074 hp1 a0001 c0001 t0001 g0001 EAS KHV EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02074 hp2 a0001 c0001 t0004 g0006 EAS KHV EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02132 hp1 a0001 c0001 t0005 g0005 EAS KHV EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02132 hp2 a0001 c0001 t0008 g0115 EAS KHV EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02135 hp1 a0001 c0001 t0001 g0001 EAS KHV EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02135 hp2 a0001 c0001 t0001 g0001 EAS KHV EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02145 hp1 a0001 c0001 t0004 g0109 AFR ACB EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02145 hp2 a0001 c0001 t0028 g0191 AFR ACB EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02148 hp1 a0001 c0001 t0003 g0173 AMR PEL EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02148 hp2 a0001 c0001 t0004 g0167 AMR PEL EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02155 hp1 a0001 c0001 t0006 g0004 EAS CDX EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02155 hp2 a0001 c0001 t0001 g0112 EAS CDX EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02165 hp1 a0001 c0001 t0006 g0136 EAS CDX EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02165 hp2 a0001 c0001 t0007 g0082 EAS CDX EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02257 hp1 a0001 c0001 t0024 g0163 AFR ACB EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02257 hp2 a0001 c0001 t0003 g0200 AFR ACB EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02258 hp1 a0001 c0001 t0035 g0162 AFR ACB EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02258 hp2 a0001 c0001 t0014 g0011 AFR ACB EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02280 hp1 a0001 c0001 t0034 g0099 AFR ACB EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02280 hp2 a0001 c0001 t0005 g0005 AFR ACB EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02293 hp1 a0001 c0001 t0020 g0013 AMR PEL EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02293 hp2 a0001 c0001 t0007 g0007 AMR PEL EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02451 hp1 a0001 c0001 t0017 g0042 AFR ACB EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02451 hp2 a0001 c0001 t0015 g0157 AFR ACB EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02523 hp1 a0001 c0001 t0079 g0064 EAS KHV EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02523 hp2 a0001 c0001 t0001 g0168 EAS KHV EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02572 hp1 a0001 c0001 t0011 g0032 AFR GWD EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02572 hp2 a0001 c0002 t0052 g0184 AFR GWD EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02615 hp1 a0001 c0001 t0018 g0051 AFR GWD EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02615 hp2 a0001 c0001 t0034 g0079 AFR GWD EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02622 hp1 a0001 c0001 t0013 g0066 AFR GWD EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02622 hp2 a0001 c0001 t0010 g0070 AFR GWD EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02630 hp1 a0001 c0001 t0011 g0032 AFR GWD EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02630 hp2 a0001 c0001 t0075 g0189 AFR GWD EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02647 hp1 a0001 c0001 t0036 g0194 AFR GWD EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02647 hp2 a0001 c0001 t0003 g0199 AFR GWD EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02698 hp1 a0001 c0001 t0022 g0022 SAS PJL EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02698 hp2 a0001 c0001 t0003 g0003 SAS PJL EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02717 hp1 a0001 c0001 t0040 g0052 AFR GWD EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02717 hp2 a0001 c0001 t0010 g0067 AFR GWD EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02723 hp1 a0001 c0001 t0043 g0107 AFR GWD EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02723 hp2 a0001 c0001 t0004 g0134 AFR GWD EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02735 hp1 a0001 c0001 t0065 g0068 SAS PJL EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02735 hp2 a0001 c0001 t0008 g0129 SAS PJL EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02738 hp1 a0001 c0001 t0008 g0009 SAS PJL EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02738 hp2 a0001 c0001 t0008 g0127 SAS PJL EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02809 hp1 a0001 c0002 t0051 g0154 AFR GWD EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02809 hp2 a0001 c0001 t0017 g0047 AFR GWD EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02818 hp1 a0001 c0001 t0063 g0164 AFR GWD EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02818 hp2 a0001 c0002 t0054 g0156 AFR GWD EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02886 hp1 a0001 c0001 t0042 g0098 AFR GWD EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02886 hp2 a0001 c0001 t0076 g0195 AFR GWD EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02895 hp1 a0001 c0001 t0017 g0018 AFR GWD EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02895 hp2 a0001 c0001 t0028 g0190 AFR GWD EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02896 hp1 a0001 c0001 t0011 g0019 AFR GWD EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02896 hp2 a0001 c0001 t0032 g0074 AFR GWD EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02897 hp1 a0001 c0001 t0017 g0018 AFR GWD EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02897 hp2 a0001 c0001 t0011 g0019 AFR GWD EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02922 hp1 a0001 c0001 t0003 g0017 AFR ESN EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02922 hp2 a0001 c0001 t0005 g0005 AFR ESN EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02965 hp1 a0001 c0001 t0027 g0026 AFR ESN EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02965 hp2 a0001 c0001 t0002 g0160 AFR ESN EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02970 hp1 a0001 c0001 t0081 g0201 AFR ESN EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02970 hp2 a0001 c0001 t0003 g0034 AFR ESN EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02976 hp1 a0001 c0001 t0024 g0044 AFR ESN EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02976 hp2 a0001 c0001 t0048 g0188 AFR ESN EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG03017 hp1 a0001 c0001 t0006 g0004 SAS PJL EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG03017 hp2 a0001 c0001 t0003 g0003 SAS PJL EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG03041 hp1 a0001 c0001 t0016 g0058 AFR GWD EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG03041 hp2 a0001 c0001 t0001 g0001 AFR GWD EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG03098 hp1 a0001 c0001 t0074 g0193 AFR MSL EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG03098 hp2 a0001 c0001 t0002 g0002 AFR MSL EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG03139 hp1 a0001 c0001 t0024 g0048 AFR ESN EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG03139 hp2 a0001 c0001 t0003 g0034 AFR ESN EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG03195 hp1 a0001 c0001 t0004 g0006 AFR ESN EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG03195 hp2 a0001 c0001 t0022 g0022 AFR ESN EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG03209 hp1 a0001 c0001 t0070 g0046 AFR MSL EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG03209 hp2 a0001 c0001 t0030 g0180 AFR MSL EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG03225 hp1 a0001 c0001 t0003 g0017 AFR MSL EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG03225 hp2 a0001 c0001 t0006 g0004 AFR MSL EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG03239 hp1 a0001 c0001 t0002 g0002 SAS PJL EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG03239 hp2 a0001 c0001 t0002 g0002 SAS PJL EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG03453 hp1 a0001 c0001 t0041 g0097 AFR MSL EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG03453 hp2 a0001 c0001 t0047 g0186 AFR MSL EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG03486 hp1 a0001 c0001 t0046 g0187 AFR MSL EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG03486 hp2 a0001 c0001 t0026 g0025 AFR MSL EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG03490 hp1 a0001 c0001 t0003 g0003 SAS PJL EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG03490 hp2 a0001 c0001 t0001 g0001 SAS PJL EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG03491 hp1 a0001 c0001 t0009 g0010 SAS PJL EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG03491 hp2 a0001 c0001 t0013 g0023 SAS PJL EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG03492 hp1 a0001 c0001 t0003 g0003 SAS PJL EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG03492 hp2 a0001 c0001 t0013 g0023 SAS PJL EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG03540 hp1 a0001 c0001 t0014 g0011 AFR GWD EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG03540 hp2 a0001 c0001 t0067 g0054 AFR GWD EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG03579 hp1 a0001 c0001 t0026 g0025 AFR MSL EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG03579 hp2 a0001 c0001 t0035 g0045 AFR MSL EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG03669 hp1 a0001 c0001 t0008 g0009 SAS PJL EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG03669 hp2 a0001 c0001 t0015 g0144 SAS PJL EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG03688 hp1 a0001 c0001 t0008 g0009 SAS STU EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG03688 hp2 a0001 c0001 t0003 g0031 SAS STU EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG03831 hp1 a0001 c0001 t0003 g0014 SAS BEB EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG03831 hp2 a0001 c0001 t0001 g0008 SAS BEB EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG03927 hp1 a0001 c0001 t0003 g0003 SAS BEB EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG03927 hp2 a0001 c0001 t0001 g0138 SAS BEB EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG03942 hp1 a0001 c0001 t0071 g0040 SAS BEB EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG03942 hp2 a0001 c0001 t0003 g0014 SAS BEB EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG04184 hp1 a0001 c0001 t0080 g0059 SAS BEB EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG04184 hp2 a0001 c0001 t0001 g0008 SAS BEB EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG04199 hp1 a0001 c0001 t0069 g0038 SAS STU EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG04199 hp2 a0001 c0001 t0013 g0056 SAS STU EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG04204 hp1 a0001 c0001 t0001 g0131 SAS STU EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG04204 hp2 a0001 c0001 t0003 g0003 SAS STU EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG04228 hp1 a0001 c0001 t0007 g0161 SAS STU EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG04228 hp2 a0001 c0001 t0006 g0004 SAS STU EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA18522 hp1 a0001 c0001 t0003 g0017 AFR YRI EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA18522 hp2 a0001 c0001 t0073 g0043 AFR YRI EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA18612 hp1 a0001 c0001 t0006 g0004 EAS CHB EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA18612 hp2 a0001 c0001 t0002 g0172 EAS CHB EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA18906 hp1 a0001 c0001 t0013 g0196 AFR YRI EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA18906 hp2 a0001 c0001 t0061 g0075 AFR YRI EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA18939 hp1 a0001 c0001 t0002 g0027 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA18939 hp2 a0001 c0001 t0002 g0002 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA18942 hp1 a0001 c0001 t0010 g0130 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA18942 hp2 a0001 c0001 t0009 g0010 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA18946 hp1 a0001 c0001 t0005 g0137 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA18946 hp2 a0001 c0001 t0002 g0002 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA18948 hp1 a0001 c0001 t0007 g0007 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA18948 hp2 a0001 c0001 t0007 g0087 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA18950 hp1 a0001 c0001 t0001 g0148 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA18950 hp2 a0001 c0001 t0001 g0001 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA18953 hp1 a0001 c0001 t0050 g0090 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA18953 hp2 a0001 c0001 t0004 g0114 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA18960 hp1 a0001 c0001 t0002 g0002 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA18960 hp2 a0001 c0001 t0057 g0036 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA18962 hp1 a0001 c0001 t0004 g0143 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA18962 hp2 a0001 c0001 t0002 g0002 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA18967 hp1 a0001 c0001 t0002 g0103 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA18967 hp2 a0001 c0001 t0001 g0001 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA18970 hp1 a0001 c0003 t0015 g0081 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA18970 hp2 a0001 c0001 t0005 g0005 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA18971 hp1 a0001 c0001 t0005 g0005 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA18971 hp2 a0001 c0001 t0002 g0002 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA18972 hp1 a0001 c0001 t0006 g0110 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA18972 hp2 a0001 c0001 t0009 g0150 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA18974 hp1 a0001 c0001 t0007 g0007 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA18974 hp2 a0001 c0001 t0004 g0024 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA18975 hp1 a0001 c0001 t0004 g0092 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA18975 hp2 a0001 c0001 t0029 g0094 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA18977 hp1 a0001 c0001 t0003 g0003 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA18977 hp2 a0001 c0001 t0005 g0005 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA18979 hp1 a0001 c0001 t0037 g0021 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA18979 hp2 a0001 c0001 t0001 g0008 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA18988 hp1 a0001 c0001 t0005 g0086 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA18988 hp2 a0001 c0001 t0012 g0029 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA18991 hp1 a0001 c0001 t0007 g0100 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA18991 hp2 a0001 c0001 t0001 g0008 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA18998 hp1 a0001 c0001 t0004 g0024 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA18998 hp2 a0001 c0001 t0004 g0006 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA18999 hp1 a0001 c0001 t0010 g0020 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA18999 hp2 a0001 c0001 t0001 g0085 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA19000 hp1 a0001 c0001 t0006 g0139 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA19000 hp2 a0001 c0001 t0007 g0106 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA19002 hp1 a0001 c0001 t0015 g0120 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA19002 hp2 a0001 c0001 t0005 g0142 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA19005 hp1 a0001 c0001 t0007 g0007 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA19005 hp2 a0001 c0001 t0003 g0177 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA19009 hp1 a0001 c0001 t0002 g0002 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA19009 hp2 a0001 c0003 t0002 g0080 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA19011 hp1 a0001 c0001 t0008 g0126 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA19011 hp2 a0001 c0001 t0007 g0007 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA19012 hp1 a0001 c0001 t0038 g0166 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA19012 hp2 a0001 c0001 t0020 g0013 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA19030 hp1 a0001 c0001 t0001 g0028 AFR LWK EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA19030 hp2 a0001 c0001 t0072 g0053 AFR LWK EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA19043 hp1 a0001 c0001 t0001 g0028 AFR LWK EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA19043 hp2 a0001 c0001 t0077 g0035 AFR LWK EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA19057 hp1 a0001 c0001 t0005 g0005 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA19057 hp2 a0001 c0001 t0005 g0151 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA19060 hp1 a0001 c0001 t0012 g0084 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA19060 hp2 a0001 c0001 t0029 g0133 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA19062 hp1 a0001 c0001 t0038 g0065 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA19062 hp2 a0001 c0001 t0006 g0169 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA19066 hp1 a0001 c0001 t0008 g0009 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA19066 hp2 a0001 c0001 t0019 g0012 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA19068 hp1 a0001 c0001 t0078 g0063 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA19068 hp2 a0001 c0001 t0009 g0010 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA19079 hp1 a0001 c0001 t0002 g0002 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA19079 hp2 a0001 c0001 t0005 g0149 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA19084 hp1 a0001 c0001 t0001 g0102 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA19084 hp2 a0001 c0001 t0001 g0001 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA19086 hp1 a0001 c0001 t0020 g0013 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA19086 hp2 a0001 c0001 t0001 g0175 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA19088 hp1 a0001 c0001 t0009 g0141 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA19088 hp2 a0001 c0001 t0004 g0006 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA19240 hp1 a0001 c0001 t0016 g0197 AFR YRI EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA19240 hp2 a0001 c0002 t0053 g0155 AFR YRI EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA20129 hp1 a0001 c0001 t0010 g0060 AFR ASW EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA20129 hp2 a0001 c0001 t0004 g0006 AFR ASW EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA20752 hp1 a0001 c0001 t0004 g0006 EUR TSI EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA20752 hp2 a0001 c0001 t0005 g0005 EUR TSI EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA20805 hp1 a0001 c0001 t0007 g0007 EUR TSI EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA20805 hp2 a0001 c0001 t0003 g0171 EUR TSI EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA20905 hp1 a0001 c0001 t0016 g0057 SAS GIH EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA20905 hp2 a0001 c0001 t0002 g0116 SAS GIH EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG01123 hp1 a0001 c0001 t0002 g0002 AMR CLM EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG01123 hp2 a0001 c0001 t0001 g0119 AMR CLM EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02109 hp1 a0001 c0001 t0044 g0104 AFR ACB EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02109 hp2 a0001 c0001 t0045 g0069 AFR ACB EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02486 hp1 a0001 c0001 t0011 g0050 AFR ACB EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02486 hp2 a0001 c0001 t0002 g0158 AFR ACB EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02559 hp1 a0001 c0001 t0018 g0183 AFR ACB EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG02559 hp2 a0001 c0001 t0002 g0159 AFR ACB EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG03471 hp1 a0001 c0001 t0011 g0049 AFR MSL EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG03471 hp2 a0001 c0001 t0027 g0026 AFR MSL EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG06807 hp1 a0001 c0001 t0039 g0055 AFR USA EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
HG06807 hp2 a0001 c0001 t0005 g0105 AFR USA EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA18955 hp1 a0001 c0001 t0001 g0001 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA18955 hp2 a0001 c0001 t0005 g0101 EAS JPT EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA20300 hp1 a0001 c0001 t0012 g0029 AFR USA EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
NA20300 hp2 a0001 c0001 t0062 g0076 AFR USA EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
homoSapiens_chm13v2 hp1 a0001 c0001 t0004 g0006 REF REF EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686
homoSapiens_grch38 hp1 a0001 c0001 t0066 g0125 REF REF EIF2B1_chr12_123615406_123638686 EIF2B1 chr12 123615406 123638686

chr:pos ref alt #
# of ahapid:amino-acid(protein) level
ahapids #
# of haplotypeids
haplotypeids annotation impact hgvs_c hgvs_p genename geneid featuretype featureid transcript_biotype rank cdna
cdna pos length
cds
cds pos length
aa
aa pos length
distance status chr pos
chr12:123630471 C
C
G
G
1 a0002
a0002
1 HG02055.hp2
HG02055.hp2
missense_variant MODERATE c.178G>C
c.178G>C
p.Asp60His
p.Asp60His
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 3/9 307/2397 178/918 60/305 chr12 123630471

chr:pos ref alt #
# of chapid
chapids #
# of haplotypeids
haplotypeids annotation impact hgvs_c hgvs_p genename geneid featuretype featureid transcript_biotype rank cdna
cdna pos length
cds
cds pos length
aa
aa pos length
distance status chr pos
chr12:123621903 G
G
A
A
1 a0001c0003
a0001c0003
2 NA18970.hp1
NA19009.hp2
NA18970.hp1
NA19009.hp2
synonymous_variant LOW c.771C>T
c.771C>T
p.Leu257Leu
p.Leu257Leu
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 9/9 900/2397 771/918 257/305 chr12 123621903
chr12:123627109 T
T
C
C
1 a0001c0002
a0001c0002
4 HG02572.hp2
HG02809.hp1
HG02818.hp2
others(1): Show 
HG02572.hp2
HG02809.hp1
HG02818.hp2
NA19240.hp2
synonymous_variant LOW c.417A>G
c.417A>G
p.Glu139Glu
p.Glu139Glu
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 5/9 546/2397 417/918 139/305 chr12 123627109

chr:pos ref alt #
# of thapid:transcript level
thapids #
# of haplotypeids
haplotypeids annotation impact hgvs_c hgvs_p genename geneid featuretype featureid transcript_biotype rank cdna
cdna pos length
cds
cds pos length
aa
aa pos length
distance status chr pos
chr12:123620438 C
C
T
T
1 a0001c0001t0064
a0001c0001t0064
1 HG02015.hp2
HG02015.hp2
3_prime_UTR_variant MODIFIER c.*1318G>A
c.*1318G>A
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 9/9 1318 chr12 123620438
chr12:123620501 GA
GA
G
G
4 a0001c0002t0051
a0001c0002t0052
a0001c0002t0053
others(1): Show 
a0001c0002t0051
a0001c0002t0052
a0001c0002t0053
a0001c0002t0054
4 HG02572.hp2
HG02809.hp1
HG02818.hp2
others(1): Show 
HG02572.hp2
HG02809.hp1
HG02818.hp2
NA19240.hp2
3_prime_UTR_variant MODIFIER c.*1254delT
c.*1254delT
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 9/9 1254 chr12 123620501
chr12:123620567 A
A
G
G
1 a0001c0001t0028
a0001c0001t0028
2 HG02145.hp2
HG02895.hp2
HG02145.hp2
HG02895.hp2
3_prime_UTR_variant MODIFIER c.*1189T>C
c.*1189T>C
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 9/9 1189 chr12 123620567
chr12:123620568 C
C
T
T
4 a0001c0001t0032
a0001c0001t0061
a0001c0001t0062
others(1): Show 
a0001c0001t0032
a0001c0001t0061
a0001c0001t0062
a0001c0001t0063
5 HG01891.hp2
HG02818.hp1
HG02896.hp2
others(2): Show 
HG01891.hp2
HG02818.hp1
HG02896.hp2
NA18906.hp2
NA20300.hp2
3_prime_UTR_variant MODIFIER c.*1188G>A
c.*1188G>A
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 9/9 1188 chr12 123620568
chr12:123620569 A
A
T
T
1 a0001c0001t0030
a0001c0001t0030
2 HG01884.hp1
HG03209.hp2
HG01884.hp1
HG03209.hp2
3_prime_UTR_variant MODIFIER c.*1187T>A
c.*1187T>A
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 9/9 1187 chr12 123620569
chr12:123620579 A
A
ATT
ATT
3 a0001c0001t0042
a0001c0001t0072
a0001c0001t0073
a0001c0001t0042
a0001c0001t0072
a0001c0001t0073
3 HG02886.hp1
NA18522.hp2
NA19030.hp2
HG02886.hp1
NA18522.hp2
NA19030.hp2
3_prime_UTR_variant MODIFIER c.*1175_*1176dupAA
c.*1175_*1176dupAA
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 9/9 1176 chr12 123620579
chr12:123620580 T
T
TTA
TTA
7 a0001c0001t0002
a0001c0001t0016
a0001c0001t0030
others(4): Show 
a0001c0001t0002
a0001c0001t0016
a0001c0001t0030
a0001c0001t0076
a0001c0002t0053
a0001c0003t0002
a0002c0004t0002
41 HG00140.hp2
HG00408.hp2
HG00423.hp2
others(38): Show 
HG00140.hp2
HG00408.hp2
HG00423.hp2
HG00558.hp1
HG00621.hp1
HG01070.hp1
HG01071.hp2
HG01099.hp2
HG01106.hp1
HG01123.hp1
HG01256.hp1
HG01258.hp2
HG01361.hp2
HG01884.hp1
HG01943.hp1
HG01975.hp2
HG02055.hp2
HG02486.hp2
HG02559.hp2
HG02886.hp2
HG02965.hp2
HG03041.hp1
HG03098.hp2
HG03209.hp2
HG03239.hp1
HG03239.hp2
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18946.hp2
NA18960.hp1
NA18962.hp2
NA18967.hp1
NA18971.hp2
NA19009.hp1
NA19009.hp2
NA19079.hp1
NA19240.hp1
NA19240.hp2
NA20905.hp1
NA20905.hp2
3_prime_UTR_variant MODIFIER c.*1174_*1175dupTA
c.*1174_*1175dupTA
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 9/9 1175 chr12 123620580
chr12:123620580 T
T
TTATA
TTATA
5 a0001c0001t0008
a0001c0001t0060
a0001c0001t0064
others(2): Show 
a0001c0001t0008
a0001c0001t0060
a0001c0001t0064
a0001c0001t0079
a0001c0002t0054
14 HG00558.hp2
HG01346.hp1
HG01433.hp1
others(11): Show 
HG00558.hp2
HG01346.hp1
HG01433.hp1
HG02015.hp2
HG02132.hp2
HG02523.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG03669.hp1
HG03688.hp1
NA19011.hp1
NA19066.hp1
3_prime_UTR_variant MODIFIER c.*1172_*1175dupTATA
c.*1172_*1175dupTATA
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 9/9 1175 chr12 123620580
chr12:123620580 T
T
TTATATA
TTATATA
4 a0001c0001t0007
a0001c0001t0023
a0001c0001t0038
others(1): Show 
a0001c0001t0007
a0001c0001t0023
a0001c0001t0038
a0001c0001t0077
21 HG00597.hp2
HG00621.hp2
HG00673.hp1
others(18): Show 
HG00597.hp2
HG00621.hp2
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG01175.hp2
HG01516.hp2
HG02165.hp2
HG02293.hp2
HG04228.hp1
NA18948.hp1
NA18948.hp2
NA18974.hp1
NA18991.hp1
NA19000.hp2
NA19005.hp1
NA19011.hp2
NA19012.hp1
NA19043.hp2
NA19062.hp1
NA20805.hp1
3_prime_UTR_variant MODIFIER c.*1170_*1175dupTATA
others(2): Show 
c.*1170_*1175dupTATATA
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 9/9 1175 chr12 123620580
chr12:123620580 T
T
TTATATAT
others(1): Show 
TTATATATA
1 a0001c0001t0006
a0001c0001t0006
16 HG00323.hp2
HG00544.hp2
HG00733.hp1
others(13): Show 
HG00323.hp2
HG00544.hp2
HG00733.hp1
HG01071.hp1
HG01517.hp2
HG01884.hp2
HG02056.hp2
HG02155.hp1
HG02165.hp1
HG03017.hp1
HG03225.hp2
HG04228.hp2
NA18612.hp1
NA18972.hp1
NA19000.hp1
NA19062.hp2
3_prime_UTR_variant MODIFIER c.*1168_*1175dupTATA
others(4): Show 
c.*1168_*1175dupTATATATA
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 9/9 1175 chr12 123620580
chr12:123620580 T
T
TTATATAT
others(3): Show 
TTATATATATA
3 a0001c0001t0015
a0001c0001t0080
a0001c0003t0015
a0001c0001t0015
a0001c0001t0080
a0001c0003t0015
5 HG02451.hp2
HG03669.hp2
HG04184.hp1
others(2): Show 
HG02451.hp2
HG03669.hp2
HG04184.hp1
NA18970.hp1
NA19002.hp1
3_prime_UTR_variant MODIFIER c.*1166_*1175dupTATA
others(6): Show 
c.*1166_*1175dupTATATATATA
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 9/9 1175 chr12 123620580
chr12:123620580 T
T
TTATATAT
others(7): Show 
TTATATATATATATA
2 a0001c0001t0055
a0001c0001t0065
a0001c0001t0055
a0001c0001t0065
2 HG00735.hp1
HG02735.hp1
HG00735.hp1
HG02735.hp1
3_prime_UTR_variant MODIFIER c.*1162_*1175dupTATA
others(10): Show 
c.*1162_*1175dupTATATATATATATA
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 9/9 1175 chr12 123620580
chr12:123620580 T
T
TTATATAT
others(9): Show 
TTATATATATATATATA
1 a0001c0001t0056
a0001c0001t0056
1 HG01168.hp2
HG01168.hp2
3_prime_UTR_variant MODIFIER c.*1160_*1175dupTATA
others(12): Show 
c.*1160_*1175dupTATATATATATATATA
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 9/9 1175 chr12 123620580
chr12:123620580 TTA
TTA
T
T
6 a0001c0001t0004
a0001c0001t0013
a0001c0001t0029
others(3): Show 
a0001c0001t0004
a0001c0001t0013
a0001c0001t0029
a0001c0001t0032
a0001c0001t0041
a0001c0002t0051
34 HG00280.hp1
HG00741.hp1
HG01070.hp2
others(31): Show 
HG00280.hp1
HG00741.hp1
HG01070.hp2
HG01106.hp2
HG01433.hp2
HG01891.hp2
HG01928.hp1
HG01978.hp2
HG02027.hp2
HG02074.hp2
HG02145.hp1
HG02148.hp2
HG02622.hp1
HG02723.hp2
HG02809.hp1
HG02896.hp2
HG03195.hp1
HG03453.hp1
HG03491.hp2
HG03492.hp2
HG04199.hp2
NA18906.hp1
NA18953.hp2
NA18962.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18998.hp1
NA18998.hp2
NA19060.hp2
NA19088.hp2
NA20129.hp2
NA20752.hp1
homoSapiens_chm13v2.hp1
3_prime_UTR_variant MODIFIER c.*1174_*1175delTA
c.*1174_*1175delTA
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 9/9 1174 chr12 123620580
chr12:123620580 TTATA
TTATA
T
T
8 a0001c0001t0005
a0001c0001t0010
a0001c0001t0021
others(5): Show 
a0001c0001t0005
a0001c0001t0010
a0001c0001t0021
a0001c0001t0035
a0001c0001t0040
a0001c0001t0058
a0001c0001t0062
a0001c0001t0074
33 HG00099.hp1
HG00140.hp1
HG00280.hp2
others(30): Show 
HG00099.hp1
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00438.hp2
HG01099.hp1
HG01515.hp2
HG01517.hp1
HG02132.hp1
HG02258.hp1
HG02280.hp2
HG02622.hp2
HG02717.hp1
HG02717.hp2
HG02922.hp2
HG03098.hp1
HG03579.hp2
HG06807.hp2
NA18942.hp1
NA18946.hp1
NA18955.hp2
NA18970.hp2
NA18971.hp1
NA18977.hp2
NA18988.hp1
NA18999.hp1
NA19002.hp2
NA19057.hp1
NA19057.hp2
NA19079.hp2
NA20129.hp1
NA20300.hp2
NA20752.hp2
3_prime_UTR_variant MODIFIER c.*1172_*1175delTATA
c.*1172_*1175delTATA
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 9/9 1172 chr12 123620580
chr12:123620580 TTATATA
TTATATA
T
T
5 a0001c0001t0012
a0001c0001t0022
a0001c0001t0034
others(2): Show 
a0001c0001t0012
a0001c0001t0022
a0001c0001t0034
a0001c0001t0043
a0001c0001t0067
12 HG00597.hp1
HG01081.hp1
HG02015.hp1
others(9): Show 
HG00597.hp1
HG01081.hp1
HG02015.hp1
HG02280.hp1
HG02615.hp2
HG02698.hp1
HG02723.hp1
HG03195.hp2
HG03540.hp2
NA18988.hp2
NA19060.hp1
NA20300.hp1
3_prime_UTR_variant MODIFIER c.*1170_*1175delTATA
others(2): Show 
c.*1170_*1175delTATATA
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 9/9 1170 chr12 123620580
chr12:123620580 TTATATAT
others(1): Show 
TTATATATA
T
T
6 a0001c0001t0009
a0001c0001t0018
a0001c0001t0036
others(3): Show 
a0001c0001t0009
a0001c0001t0018
a0001c0001t0036
a0001c0001t0059
a0001c0001t0061
a0001c0001t0071
17 HG00544.hp1
HG01109.hp1
HG01256.hp2
others(14): Show 
HG00544.hp1
HG01109.hp1
HG01256.hp2
HG01361.hp1
HG01978.hp1
HG01981.hp1
HG02071.hp1
HG02559.hp1
HG02615.hp1
HG02647.hp1
HG03491.hp1
HG03942.hp1
NA18906.hp2
NA18942.hp2
NA18972.hp2
NA19068.hp2
NA19088.hp1
3_prime_UTR_variant MODIFIER c.*1168_*1175delTATA
others(4): Show 
c.*1168_*1175delTATATATA
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 9/9 1168 chr12 123620580
chr12:123620580 TTATATAT
others(3): Show 
TTATATATATA
T
T
4 a0001c0001t0011
a0001c0001t0025
a0001c0001t0026
others(1): Show 
a0001c0001t0011
a0001c0001t0025
a0001c0001t0026
a0001c0001t0050
12 HG01243.hp1
HG01346.hp2
HG01975.hp1
others(9): Show 
HG01243.hp1
HG01346.hp2
HG01975.hp1
HG02486.hp1
HG02572.hp1
HG02630.hp1
HG02896.hp1
HG02897.hp2
HG03471.hp1
HG03486.hp2
HG03579.hp1
NA18953.hp1
3_prime_UTR_variant MODIFIER c.*1166_*1175delTATA
others(6): Show 
c.*1166_*1175delTATATATATA
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 9/9 1166 chr12 123620580
chr12:123620580 TTATATAT
others(5): Show 
TTATATATATATA
T
T
2 a0001c0001t0045
a0001c0001t0049
a0001c0001t0045
a0001c0001t0049
2 HG02056.hp1
HG02109.hp2
HG02056.hp1
HG02109.hp2
3_prime_UTR_variant MODIFIER c.*1164_*1175delTATA
others(8): Show 
c.*1164_*1175delTATATATATATA
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 9/9 1164 chr12 123620580
chr12:123620580 TTATATAT
others(7): Show 
TTATATATATATATA
T
T
1 a0001c0001t0078
a0001c0001t0078
1 NA19068.hp1
NA19068.hp1
3_prime_UTR_variant MODIFIER c.*1162_*1175delTATA
others(10): Show 
c.*1162_*1175delTATATATATATATA
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 9/9 1162 chr12 123620580
chr12:123620580 TTATATAT
others(9): Show 
TTATATATATATATATA
T
T
2 a0001c0001t0020
a0001c0001t0057
a0001c0001t0020
a0001c0001t0057
4 HG02293.hp1
NA18960.hp2
NA19012.hp2
others(1): Show 
HG02293.hp1
NA18960.hp2
NA19012.hp2
NA19086.hp1
3_prime_UTR_variant MODIFIER c.*1160_*1175delTATA
others(12): Show 
c.*1160_*1175delTATATATATATATATA
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 9/9 1160 chr12 123620580
chr12:123620580 TTATATAT
others(11): Show 
TTATATATATATATATATA
T
T
1 a0001c0001t0039
a0001c0001t0039
1 HG06807.hp1
HG06807.hp1
3_prime_UTR_variant MODIFIER c.*1158_*1175delTATA
others(14): Show 
c.*1158_*1175delTATATATATATATATATA
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 9/9 1158 chr12 123620580
chr12:123620580 TTATATAT
others(13): Show 
TTATATATATATATATATATA
T
T
1 a0001c0001t0081
a0001c0001t0081
1 HG02970.hp1
HG02970.hp1
3_prime_UTR_variant MODIFIER c.*1156_*1175delTATA
others(16): Show 
c.*1156_*1175delTATATATATATATATATATA
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 9/9 1156 chr12 123620580
chr12:123620580 TTATATAT
others(15): Show 
TTATATATATATATATATATATA
T
T
1 a0001c0001t0048
a0001c0001t0048
1 HG02976.hp2
HG02976.hp2
3_prime_UTR_variant MODIFIER c.*1154_*1175delTATA
others(18): Show 
c.*1154_*1175delTATATATATATATATATATATA
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 9/9 1154 chr12 123620580
chr12:123620580 TTATATAT
others(21): Show 
TTATATATATATATATATATATATATATA
T
T
1 a0001c0001t0019
a0001c0001t0019
3 HG00438.hp1
HG02071.hp2
NA19066.hp2
HG00438.hp1
HG02071.hp2
NA19066.hp2
3_prime_UTR_variant MODIFIER c.*1148_*1175delTATA
others(24): Show 
c.*1148_*1175delTATATATATATATATATATATATATATA
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 9/9 1148 chr12 123620580
chr12:123620580 TTATATAT
others(25): Show 
TTATATATATATATATATATATATATATATATA
T
T
2 a0001c0001t0003
a0001c0001t0028
a0001c0001t0003
a0001c0001t0028
31 HG00733.hp2
HG00735.hp2
HG00738.hp2
others(28): Show 
HG00733.hp2
HG00735.hp2
HG00738.hp2
HG01074.hp1
HG01081.hp2
HG01175.hp1
HG01255.hp1
HG01516.hp1
HG01934.hp2
HG02145.hp2
HG02148.hp1
HG02257.hp2
HG02647.hp2
HG02698.hp2
HG02895.hp2
HG02922.hp1
HG02970.hp2
HG03017.hp2
HG03139.hp2
HG03225.hp1
HG03490.hp1
HG03492.hp1
HG03688.hp2
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04204.hp2
NA18522.hp1
NA18977.hp1
NA19005.hp2
NA20805.hp2
3_prime_UTR_variant MODIFIER c.*1144_*1175delTATA
others(28): Show 
c.*1144_*1175delTATATATATATATATATATATATATATATATA
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 9/9 1144 chr12 123620580
chr12:123620580 TTATATAT
others(27): Show 
TTATATATATATATATATATATATATATATATATA
T
T
1 a0001c0001t0046
a0001c0001t0046
1 HG03486.hp1
HG03486.hp1
3_prime_UTR_variant MODIFIER c.*1142_*1175delTATA
others(30): Show 
c.*1142_*1175delTATATATATATATATATATATATATATATATATA
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 9/9 1142 chr12 123620580
chr12:123620582 A
A
T
T
4 a0001c0001t0014
a0001c0001t0068
a0001c0001t0072
others(1): Show 
a0001c0001t0014
a0001c0001t0068
a0001c0001t0072
a0001c0001t0073
7 HG01109.hp2
HG01243.hp2
HG02055.hp1
others(4): Show 
HG01109.hp2
HG01243.hp2
HG02055.hp1
HG02258.hp2
HG03540.hp1
NA18522.hp2
NA19030.hp2
3_prime_UTR_variant MODIFIER c.*1174T>A
c.*1174T>A
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 9/9 1174 chr12 123620582
chr12:123620584 A
A
T
T
2 a0001c0001t0029
a0001c0001t0041
a0001c0001t0029
a0001c0001t0041
3 HG03453.hp1
NA18975.hp2
NA19060.hp2
HG03453.hp1
NA18975.hp2
NA19060.hp2
3_prime_UTR_variant MODIFIER c.*1172T>A
c.*1172T>A
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 9/9 1172 chr12 123620584
chr12:123620586 A
A
T
T
1 a0001c0001t0040
a0001c0001t0040
1 HG02717.hp1
HG02717.hp1
3_prime_UTR_variant MODIFIER c.*1170T>A
c.*1170T>A
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 9/9 1170 chr12 123620586
chr12:123620588 A
A
T
T
1 a0001c0001t0067
a0001c0001t0067
1 HG03540.hp2
HG03540.hp2
3_prime_UTR_variant MODIFIER c.*1168T>A
c.*1168T>A
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 9/9 1168 chr12 123620588
chr12:123620592 A
A
T
T
1 a0001c0001t0026
a0001c0001t0026
2 HG03486.hp2
HG03579.hp1
HG03486.hp2
HG03579.hp1
3_prime_UTR_variant MODIFIER c.*1164T>A
c.*1164T>A
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 9/9 1164 chr12 123620592
chr12:123620617 T
T
A
A
3 a0001c0001t0071
a0001c0001t0072
a0001c0001t0073
a0001c0001t0071
a0001c0001t0072
a0001c0001t0073
3 HG03942.hp1
NA18522.hp2
NA19030.hp2
HG03942.hp1
NA18522.hp2
NA19030.hp2
3_prime_UTR_variant MODIFIER c.*1139A>T
c.*1139A>T
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 9/9 1139 chr12 123620617
chr12:123620619 T
T
A
A
11 a0001c0001t0011
a0001c0001t0018
a0001c0001t0034
others(8): Show 
a0001c0001t0011
a0001c0001t0018
a0001c0001t0034
a0001c0001t0035
a0001c0001t0045
a0001c0001t0067
a0001c0001t0068
a0001c0001t0069
a0001c0001t0071
a0001c0001t0072
a0001c0001t0073
21 HG01109.hp1
HG01243.hp2
HG01256.hp2
others(18): Show 
HG01109.hp1
HG01243.hp2
HG01256.hp2
HG02109.hp2
HG02258.hp1
HG02280.hp1
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02896.hp1
HG02897.hp2
HG03471.hp1
HG03540.hp2
HG03579.hp2
HG03942.hp1
HG04199.hp1
NA18522.hp2
NA19030.hp2
3_prime_UTR_variant MODIFIER c.*1137A>T
c.*1137A>T
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 9/9 1137 chr12 123620619
chr12:123620619 T
T
TAA
TAA
1 a0001c0001t0024
a0001c0001t0024
3 HG02257.hp1
HG02976.hp1
HG03139.hp1
HG02257.hp1
HG02976.hp1
HG03139.hp1
3_prime_UTR_variant MODIFIER c.*1136_*1137insTT
c.*1136_*1137insTT
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 9/9 1136 chr12 123620619
chr12:123620619 T
T
TATATATA
others(3): Show 
TATATATATAA
1 a0001c0001t0070
a0001c0001t0070
1 HG03209.hp1
HG03209.hp1
3_prime_UTR_variant MODIFIER c.*1127_*1136dupTTAT
others(6): Show 
c.*1127_*1136dupTTATATATAT
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 9/9 1136 chr12 123620619
chr12:123620627 T
T
A
A
10 a0001c0001t0014
a0001c0001t0021
a0001c0001t0026
others(7): Show 
a0001c0001t0014
a0001c0001t0021
a0001c0001t0026
a0001c0001t0027
a0001c0001t0039
a0001c0001t0040
a0001c0001t0041
a0001c0001t0042
a0001c0001t0057
a0001c0001t0058
17 HG00140.hp1
HG00323.hp1
HG01109.hp2
others(14): Show 
HG00140.hp1
HG00323.hp1
HG01109.hp2
HG01515.hp2
HG01517.hp1
HG02055.hp1
HG02258.hp2
HG02717.hp1
HG02886.hp1
HG02965.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03579.hp1
HG06807.hp1
NA18960.hp2
3_prime_UTR_variant MODIFIER c.*1129A>T
c.*1129A>T
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 9/9 1129 chr12 123620627
chr12:123620629 A
A
G
G
6 a0001c0001t0025
a0001c0001t0036
a0001c0001t0074
others(3): Show 
a0001c0001t0025
a0001c0001t0036
a0001c0001t0074
a0001c0001t0075
a0001c0001t0076
a0001c0001t0077
9 HG01243.hp1
HG01346.hp2
HG01975.hp1
others(6): Show 
HG01243.hp1
HG01346.hp2
HG01975.hp1
HG01978.hp1
HG02630.hp2
HG02647.hp1
HG02886.hp2
HG03098.hp1
NA19043.hp2
3_prime_UTR_variant MODIFIER c.*1127T>C
c.*1127T>C
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 9/9 1127 chr12 123620629
chr12:123620679 A
A
T
T
26 a0001c0001t0003
a0001c0001t0011
a0001c0001t0017
others(23): Show 
a0001c0001t0003
a0001c0001t0011
a0001c0001t0017
a0001c0001t0018
a0001c0001t0024
a0001c0001t0025
a0001c0001t0028
a0001c0001t0034
a0001c0001t0035
a0001c0001t0036
a0001c0001t0045
a0001c0001t0046
a0001c0001t0047
a0001c0001t0048
a0001c0001t0067
a0001c0001t0068
a0001c0001t0069
a0001c0001t0070
a0001c0001t0071
a0001c0001t0072
a0001c0001t0073
a0001c0001t0074
a0001c0001t0075
a0001c0001t0076
a0001c0001t0077
a0001c0001t0081
73 HG00733.hp2
HG00735.hp2
HG00738.hp2
others(70): Show 
HG00733.hp2
HG00735.hp2
HG00738.hp2
HG01074.hp1
HG01081.hp2
HG01109.hp1
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp2
HG01346.hp2
HG01516.hp1
HG01934.hp2
HG01975.hp1
HG01978.hp1
HG02109.hp2
HG02145.hp2
HG02148.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03490.hp1
HG03492.hp1
HG03540.hp2
HG03579.hp2
HG03688.hp2
HG03831.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04204.hp2
NA18522.hp1
NA18522.hp2
NA18977.hp1
NA19005.hp2
NA19030.hp2
NA19043.hp2
NA20805.hp2
3_prime_UTR_variant MODIFIER c.*1077T>A
c.*1077T>A
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 9/9 1077 chr12 123620679
chr12:123620749 G
G
A
A
2 a0001c0001t0031
a0001c0001t0058
a0001c0001t0031
a0001c0001t0058
3 HG00099.hp2
HG00323.hp1
HG01168.hp1
HG00099.hp2
HG00323.hp1
HG01168.hp1
3_prime_UTR_variant MODIFIER c.*1007C>T
c.*1007C>T
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 9/9 1007 chr12 123620749
chr12:123620781 T
T
C
C
26 a0001c0001t0003
a0001c0001t0011
a0001c0001t0017
others(23): Show 
a0001c0001t0003
a0001c0001t0011
a0001c0001t0017
a0001c0001t0018
a0001c0001t0024
a0001c0001t0025
a0001c0001t0028
a0001c0001t0034
a0001c0001t0035
a0001c0001t0036
a0001c0001t0045
a0001c0001t0046
a0001c0001t0047
a0001c0001t0048
a0001c0001t0067
a0001c0001t0068
a0001c0001t0069
a0001c0001t0070
a0001c0001t0071
a0001c0001t0072
a0001c0001t0073
a0001c0001t0074
a0001c0001t0075
a0001c0001t0076
a0001c0001t0077
a0001c0001t0081
73 HG00733.hp2
HG00735.hp2
HG00738.hp2
others(70): Show 
HG00733.hp2
HG00735.hp2
HG00738.hp2
HG01074.hp1
HG01081.hp2
HG01109.hp1
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp2
HG01346.hp2
HG01516.hp1
HG01934.hp2
HG01975.hp1
HG01978.hp1
HG02109.hp2
HG02145.hp2
HG02148.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03490.hp1
HG03492.hp1
HG03540.hp2
HG03579.hp2
HG03688.hp2
HG03831.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04204.hp2
NA18522.hp1
NA18522.hp2
NA18977.hp1
NA19005.hp2
NA19030.hp2
NA19043.hp2
NA20805.hp2
3_prime_UTR_variant MODIFIER c.*975A>G
c.*975A>G
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 9/9 975 chr12 123620781
chr12:123620789 G
G
A
A
26 a0001c0001t0003
a0001c0001t0011
a0001c0001t0017
others(23): Show 
a0001c0001t0003
a0001c0001t0011
a0001c0001t0017
a0001c0001t0018
a0001c0001t0024
a0001c0001t0025
a0001c0001t0028
a0001c0001t0034
a0001c0001t0035
a0001c0001t0036
a0001c0001t0045
a0001c0001t0046
a0001c0001t0047
a0001c0001t0048
a0001c0001t0067
a0001c0001t0068
a0001c0001t0069
a0001c0001t0070
a0001c0001t0071
a0001c0001t0072
a0001c0001t0073
a0001c0001t0074
a0001c0001t0075
a0001c0001t0076
a0001c0001t0077
a0001c0001t0081
73 HG00733.hp2
HG00735.hp2
HG00738.hp2
others(70): Show 
HG00733.hp2
HG00735.hp2
HG00738.hp2
HG01074.hp1
HG01081.hp2
HG01109.hp1
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp2
HG01346.hp2
HG01516.hp1
HG01934.hp2
HG01975.hp1
HG01978.hp1
HG02109.hp2
HG02145.hp2
HG02148.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03490.hp1
HG03492.hp1
HG03540.hp2
HG03579.hp2
HG03688.hp2
HG03831.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04204.hp2
NA18522.hp1
NA18522.hp2
NA18977.hp1
NA19005.hp2
NA19030.hp2
NA19043.hp2
NA20805.hp2
3_prime_UTR_variant MODIFIER c.*967C>T
c.*967C>T
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 9/9 967 chr12 123620789
chr12:123620831 G
G
A
A
1 a0001c0001t0059
a0001c0001t0059
1 HG00544.hp1
HG00544.hp1
3_prime_UTR_variant MODIFIER c.*925C>T
c.*925C>T
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 9/9 925 chr12 123620831
chr12:123620944 T
T
C
C
1 a0001c0001t0073
a0001c0001t0073
1 NA18522.hp2
NA18522.hp2
3_prime_UTR_variant MODIFIER c.*812A>G
c.*812A>G
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 9/9 812 chr12 123620944
chr12:123620960 G
G
A
A
1 a0001c0001t0060
a0001c0001t0060
1 HG01433.hp1
HG01433.hp1
3_prime_UTR_variant MODIFIER c.*796C>T
c.*796C>T
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 9/9 796 chr12 123620960
chr12:123621025 A
A
G
G
17 a0001c0001t0010
a0001c0001t0013
a0001c0001t0016
others(14): Show 
a0001c0001t0010
a0001c0001t0013
a0001c0001t0016
a0001c0001t0022
a0001c0001t0023
a0001c0001t0032
a0001c0001t0033
a0001c0001t0037
a0001c0001t0038
a0001c0001t0061
a0001c0001t0062
a0001c0001t0063
a0001c0001t0064
a0001c0001t0065
a0001c0001t0078
a0001c0001t0079
a0001c0001t0080
38 HG00280.hp2
HG00408.hp1
HG00621.hp2
others(35): Show 
HG00280.hp2
HG00408.hp1
HG00621.hp2
HG00673.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01175.hp2
HG01891.hp1
HG01891.hp2
HG02015.hp2
HG02523.hp1
HG02622.hp1
HG02622.hp2
HG02698.hp1
HG02717.hp2
HG02735.hp1
HG02818.hp1
HG02896.hp2
HG03041.hp1
HG03195.hp2
HG03491.hp2
HG03492.hp2
HG04184.hp1
HG04199.hp2
NA18906.hp1
NA18906.hp2
NA18942.hp1
NA18979.hp1
NA18999.hp1
NA19012.hp1
NA19062.hp1
NA19068.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp2
NA20905.hp1
3_prime_UTR_variant MODIFIER c.*731T>C
c.*731T>C
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 9/9 731 chr12 123621025
chr12:123621091 G
G
A
A
17 a0001c0001t0010
a0001c0001t0013
a0001c0001t0016
others(14): Show 
a0001c0001t0010
a0001c0001t0013
a0001c0001t0016
a0001c0001t0022
a0001c0001t0023
a0001c0001t0032
a0001c0001t0033
a0001c0001t0037
a0001c0001t0038
a0001c0001t0061
a0001c0001t0062
a0001c0001t0063
a0001c0001t0064
a0001c0001t0065
a0001c0001t0078
a0001c0001t0079
a0001c0001t0080
38 HG00280.hp2
HG00408.hp1
HG00621.hp2
others(35): Show 
HG00280.hp2
HG00408.hp1
HG00621.hp2
HG00673.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01175.hp2
HG01891.hp1
HG01891.hp2
HG02015.hp2
HG02523.hp1
HG02622.hp1
HG02622.hp2
HG02698.hp1
HG02717.hp2
HG02735.hp1
HG02818.hp1
HG02896.hp2
HG03041.hp1
HG03195.hp2
HG03491.hp2
HG03492.hp2
HG04184.hp1
HG04199.hp2
NA18906.hp1
NA18906.hp2
NA18942.hp1
NA18979.hp1
NA18999.hp1
NA19012.hp1
NA19062.hp1
NA19068.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp2
NA20905.hp1
3_prime_UTR_variant MODIFIER c.*665C>T
c.*665C>T
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 9/9 665 chr12 123621091
chr12:123621292 T
T
C
C
50 a0001c0001t0003
a0001c0001t0010
a0001c0001t0011
others(47): Show 
a0001c0001t0003
a0001c0001t0010
a0001c0001t0011
a0001c0001t0013
a0001c0001t0014
a0001c0001t0016
a0001c0001t0017
a0001c0001t0018
a0001c0001t0022
a0001c0001t0023
a0001c0001t0024
a0001c0001t0025
a0001c0001t0026
a0001c0001t0027
a0001c0001t0028
a0001c0001t0032
a0001c0001t0033
a0001c0001t0034
a0001c0001t0035
a0001c0001t0036
a0001c0001t0037
a0001c0001t0038
a0001c0001t0039
a0001c0001t0040
a0001c0001t0041
a0001c0001t0042
a0001c0001t0045
a0001c0001t0046
a0001c0001t0047
a0001c0001t0048
a0001c0001t0061
a0001c0001t0062
a0001c0001t0063
a0001c0001t0064
a0001c0001t0065
a0001c0001t0067
a0001c0001t0068
a0001c0001t0069
a0001c0001t0070
a0001c0001t0071
a0001c0001t0072
a0001c0001t0073
a0001c0001t0074
a0001c0001t0075
a0001c0001t0076
a0001c0001t0077
a0001c0001t0078
a0001c0001t0079
a0001c0001t0080
a0001c0001t0081
123 HG00280.hp2
HG00408.hp1
HG00621.hp2
others(120): Show 
HG00280.hp2
HG00408.hp1
HG00621.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp2
HG01346.hp2
HG01516.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp1
HG01978.hp1
HG02015.hp2
HG02055.hp1
HG02109.hp2
HG02145.hp2
HG02148.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp2
HG03831.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18942.hp1
NA18977.hp1
NA18979.hp1
NA18999.hp1
NA19005.hp2
NA19012.hp1
NA19030.hp2
NA19043.hp2
NA19062.hp1
NA19068.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp2
NA20805.hp2
NA20905.hp1
3_prime_UTR_variant MODIFIER c.*464A>G
c.*464A>G
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 9/9 464 chr12 123621292
chr12:123621301 A
A
G
G
83 a0001c0001t0001
a0001c0001t0002
a0001c0001t0003
others(80): Show 
a0001c0001t0001
a0001c0001t0002
a0001c0001t0003
a0001c0001t0004
a0001c0001t0005
a0001c0001t0006
a0001c0001t0007
a0001c0001t0008
a0001c0001t0009
a0001c0001t0010
a0001c0001t0011
a0001c0001t0012
a0001c0001t0013
a0001c0001t0014
a0001c0001t0015
a0001c0001t0016
a0001c0001t0017
a0001c0001t0018
a0001c0001t0019
a0001c0001t0020
a0001c0001t0021
a0001c0001t0022
a0001c0001t0023
a0001c0001t0024
a0001c0001t0025
a0001c0001t0026
a0001c0001t0027
a0001c0001t0028
a0001c0001t0029
a0001c0001t0030
a0001c0001t0031
a0001c0001t0032
a0001c0001t0033
a0001c0001t0034
a0001c0001t0035
a0001c0001t0036
a0001c0001t0037
a0001c0001t0038
a0001c0001t0039
a0001c0001t0040
a0001c0001t0041
a0001c0001t0042
a0001c0001t0043
a0001c0001t0044
a0001c0001t0045
a0001c0001t0046
a0001c0001t0047
a0001c0001t0048
a0001c0001t0049
a0001c0001t0050
a0001c0001t0055
a0001c0001t0056
a0001c0001t0057
a0001c0001t0058
a0001c0001t0059
a0001c0001t0060
a0001c0001t0061
a0001c0001t0062
a0001c0001t0063
a0001c0001t0064
a0001c0001t0065
a0001c0001t0067
a0001c0001t0068
a0001c0001t0069
a0001c0001t0070
a0001c0001t0071
a0001c0001t0072
a0001c0001t0073
a0001c0001t0074
a0001c0001t0075
a0001c0001t0076
a0001c0001t0077
a0001c0001t0078
a0001c0001t0079
a0001c0001t0080
a0001c0001t0081
a0001c0002t0051
a0001c0002t0052
a0001c0002t0053
a0001c0002t0054
a0001c0003t0002
a0001c0003t0015
a0002c0004t0002
321 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(318): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp1
NA18967.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18988.hp1
NA18988.hp2
NA18991.hp1
NA18991.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19079.hp1
NA19079.hp2
NA19084.hp1
NA19084.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
3_prime_UTR_variant MODIFIER c.*455T>C
c.*455T>C
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 9/9 455 chr12 123621301
chr12:123621330 C
C
G
G
4 a0001c0001t0046
a0001c0001t0047
a0001c0001t0048
others(1): Show 
a0001c0001t0046
a0001c0001t0047
a0001c0001t0048
a0001c0001t0081
4 HG02970.hp1
HG02976.hp2
HG03453.hp2
others(1): Show 
HG02970.hp1
HG02976.hp2
HG03453.hp2
HG03486.hp1
3_prime_UTR_variant MODIFIER c.*426G>C
c.*426G>C
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 9/9 426 chr12 123621330
chr12:123621361 A
A
G
G
25 a0001c0001t0003
a0001c0001t0011
a0001c0001t0017
others(22): Show 
a0001c0001t0003
a0001c0001t0011
a0001c0001t0017
a0001c0001t0018
a0001c0001t0024
a0001c0001t0025
a0001c0001t0028
a0001c0001t0034
a0001c0001t0035
a0001c0001t0036
a0001c0001t0045
a0001c0001t0046
a0001c0001t0047
a0001c0001t0067
a0001c0001t0068
a0001c0001t0069
a0001c0001t0070
a0001c0001t0071
a0001c0001t0072
a0001c0001t0073
a0001c0001t0074
a0001c0001t0075
a0001c0001t0076
a0001c0001t0077
a0001c0001t0081
72 HG00733.hp2
HG00735.hp2
HG00738.hp2
others(69): Show 
HG00733.hp2
HG00735.hp2
HG00738.hp2
HG01074.hp1
HG01081.hp2
HG01109.hp1
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp2
HG01346.hp2
HG01516.hp1
HG01934.hp2
HG01975.hp1
HG01978.hp1
HG02109.hp2
HG02145.hp2
HG02148.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03490.hp1
HG03492.hp1
HG03540.hp2
HG03579.hp2
HG03688.hp2
HG03831.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04204.hp2
NA18522.hp1
NA18522.hp2
NA18977.hp1
NA19005.hp2
NA19030.hp2
NA19043.hp2
NA20805.hp2
3_prime_UTR_variant MODIFIER c.*395T>C
c.*395T>C
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 9/9 395 chr12 123621361
chr12:123621378 G
G
A
A
22 a0001c0001t0003
a0001c0001t0011
a0001c0001t0017
others(19): Show 
a0001c0001t0003
a0001c0001t0011
a0001c0001t0017
a0001c0001t0018
a0001c0001t0024
a0001c0001t0025
a0001c0001t0028
a0001c0001t0034
a0001c0001t0035
a0001c0001t0036
a0001c0001t0045
a0001c0001t0067
a0001c0001t0068
a0001c0001t0069
a0001c0001t0070
a0001c0001t0071
a0001c0001t0072
a0001c0001t0073
a0001c0001t0074
a0001c0001t0075
a0001c0001t0076
a0001c0001t0077
69 HG00733.hp2
HG00735.hp2
HG00738.hp2
others(66): Show 
HG00733.hp2
HG00735.hp2
HG00738.hp2
HG01074.hp1
HG01081.hp2
HG01109.hp1
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp2
HG01346.hp2
HG01516.hp1
HG01934.hp2
HG01975.hp1
HG01978.hp1
HG02109.hp2
HG02145.hp2
HG02148.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03540.hp2
HG03579.hp2
HG03688.hp2
HG03831.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04204.hp2
NA18522.hp1
NA18522.hp2
NA18977.hp1
NA19005.hp2
NA19030.hp2
NA19043.hp2
NA20805.hp2
3_prime_UTR_variant MODIFIER c.*378C>T
c.*378C>T
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 9/9 378 chr12 123621378
chr12:123621401 C
C
T
T
9 a0001c0001t0003
a0001c0001t0025
a0001c0001t0028
others(6): Show 
a0001c0001t0003
a0001c0001t0025
a0001c0001t0028
a0001c0001t0036
a0001c0001t0045
a0001c0001t0074
a0001c0001t0075
a0001c0001t0076
a0001c0001t0077
41 HG00733.hp2
HG00735.hp2
HG00738.hp2
others(38): Show 
HG00733.hp2
HG00735.hp2
HG00738.hp2
HG01074.hp1
HG01081.hp2
HG01175.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp2
HG01516.hp1
HG01934.hp2
HG01975.hp1
HG01978.hp1
HG02109.hp2
HG02145.hp2
HG02148.hp1
HG02257.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG02970.hp2
HG03017.hp2
HG03098.hp1
HG03139.hp2
HG03225.hp1
HG03490.hp1
HG03492.hp1
HG03688.hp2
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04204.hp2
NA18522.hp1
NA18977.hp1
NA19005.hp2
NA19043.hp2
NA20805.hp2
3_prime_UTR_variant MODIFIER c.*355G>A
c.*355G>A
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 9/9 355 chr12 123621401
chr12:123621402 G
G
T
T
2 a0001c0001t0043
a0001c0001t0044
a0001c0001t0043
a0001c0001t0044
2 HG02109.hp1
HG02723.hp1
HG02109.hp1
HG02723.hp1
3_prime_UTR_variant MODIFIER c.*354C>A
c.*354C>A
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 9/9 354 chr12 123621402
chr12:123621404 G
G
C
C
1 a0001c0001t0078
a0001c0001t0078
1 NA19068.hp1
NA19068.hp1
3_prime_UTR_variant MODIFIER c.*352C>G
c.*352C>G
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 9/9 352 chr12 123621404
chr12:123621498 T
T
C
C
6 a0001c0001t0025
a0001c0001t0036
a0001c0001t0074
others(3): Show 
a0001c0001t0025
a0001c0001t0036
a0001c0001t0074
a0001c0001t0075
a0001c0001t0076
a0001c0001t0077
9 HG01243.hp1
HG01346.hp2
HG01975.hp1
others(6): Show 
HG01243.hp1
HG01346.hp2
HG01975.hp1
HG01978.hp1
HG02630.hp2
HG02647.hp1
HG02886.hp2
HG03098.hp1
NA19043.hp2
3_prime_UTR_variant MODIFIER c.*258A>G
c.*258A>G
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 9/9 258 chr12 123621498
chr12:123621560 T
T
A
A
1 a0001c0001t0078
a0001c0001t0078
1 NA19068.hp1
NA19068.hp1
3_prime_UTR_variant MODIFIER c.*196A>T
c.*196A>T
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 9/9 196 chr12 123621560
chr12:123621577 T
T
G
G
4 a0001c0001t0037
a0001c0001t0038
a0001c0001t0079
others(1): Show 
a0001c0001t0037
a0001c0001t0038
a0001c0001t0079
a0001c0001t0080
6 HG00408.hp1
HG02523.hp1
HG04184.hp1
others(3): Show 
HG00408.hp1
HG02523.hp1
HG04184.hp1
NA18979.hp1
NA19012.hp1
NA19062.hp1
3_prime_UTR_variant MODIFIER c.*179A>C
c.*179A>C
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 9/9 179 chr12 123621577
chr12:123621707 C
C
T
T
7 a0001c0001t0014
a0001c0001t0026
a0001c0001t0027
others(4): Show 
a0001c0001t0014
a0001c0001t0026
a0001c0001t0027
a0001c0001t0039
a0001c0001t0040
a0001c0001t0041
a0001c0001t0042
12 HG01109.hp2
HG02055.hp1
HG02258.hp2
others(9): Show 
HG01109.hp2
HG02055.hp1
HG02258.hp2
HG02717.hp1
HG02886.hp1
HG02965.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03579.hp1
HG06807.hp1
3_prime_UTR_variant MODIFIER c.*49G>A
c.*49G>A
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 9/9 49 chr12 123621707
chr12:123633615 G
G
C
C
1 a0001c0001t0081
a0001c0001t0081
1 HG02970.hp1
HG02970.hp1
5_prime_UTR_variant MODIFIER c.-58C>G
c.-58C>G
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 1/9 58 chr12 123633615

chr:pos ref alt #
# of ghapid:genebody level
ghapids #
# of haplotypeids
haplotypeids annotation impact hgvs_c hgvs_p genename geneid featuretype featureid genebody_biotype rank cdna
cdna pos length
cds
cds pos length
aa
aa pos length
distance status chr pos
chr12:123622038 A
A
C
C
1 a0001c0001t0001g0119
a0001c0001t0001g0119
1 HG01123.hp2
HG01123.hp2
intron_variant MODIFIER c.754-118T>G
c.754-118T>G
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 8/8 chr12 123622038
chr12:123622161 C
C
T
T
2 a0001c0001t0004g0092
a0001c0001t0050g0090
a0001c0001t0004g0092
a0001c0001t0050g0090
2 NA18953.hp1
NA18975.hp1
NA18953.hp1
NA18975.hp1
intron_variant MODIFIER c.754-241G>A
c.754-241G>A
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 8/8 chr12 123622161
chr12:123622221 C
C
T
T
1 a0001c0001t0003g0014
a0001c0001t0003g0014
3 HG01516.hp1
HG03831.hp1
HG03942.hp2
HG01516.hp1
HG03831.hp1
HG03942.hp2
intron_variant MODIFIER c.754-301G>A
c.754-301G>A
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 8/8 chr12 123622221
chr12:123622414 C
C
T
T
2 a0001c0001t0010g0060
a0001c0001t0013g0066
a0001c0001t0010g0060
a0001c0001t0013g0066
2 HG02622.hp1
NA20129.hp1
HG02622.hp1
NA20129.hp1
intron_variant MODIFIER c.753+222G>A
c.753+222G>A
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 8/8 chr12 123622414
chr12:123622468 G
G
A
A
107 a0001c0001t0001g0015
a0001c0001t0001g0175
a0001c0001t0003g0003
others(104): Show 
a0001c0001t0001g0015
a0001c0001t0001g0175
a0001c0001t0003g0003
a0001c0001t0003g0014
a0001c0001t0003g0017
a0001c0001t0003g0031
a0001c0001t0003g0034
a0001c0001t0003g0171
a0001c0001t0003g0173
a0001c0001t0003g0177
a0001c0001t0003g0179
a0001c0001t0003g0185
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0010g0020
a0001c0001t0010g0060
a0001c0001t0010g0067
a0001c0001t0010g0070
a0001c0001t0010g0130
a0001c0001t0010g0198
a0001c0001t0011g0019
a0001c0001t0011g0032
a0001c0001t0011g0049
a0001c0001t0011g0050
a0001c0001t0013g0023
a0001c0001t0013g0056
a0001c0001t0013g0066
a0001c0001t0013g0196
a0001c0001t0014g0011
a0001c0001t0014g0096
a0001c0001t0016g0057
a0001c0001t0016g0058
a0001c0001t0016g0078
a0001c0001t0016g0197
a0001c0001t0017g0018
a0001c0001t0017g0042
a0001c0001t0017g0047
a0001c0001t0018g0039
a0001c0001t0018g0041
a0001c0001t0018g0051
a0001c0001t0018g0183
a0001c0001t0021g0016
a0001c0001t0022g0022
a0001c0001t0022g0073
a0001c0001t0023g0062
a0001c0001t0023g0072
a0001c0001t0023g0165
a0001c0001t0024g0044
a0001c0001t0024g0048
a0001c0001t0024g0163
a0001c0001t0025g0033
a0001c0001t0025g0182
a0001c0001t0026g0025
a0001c0001t0027g0026
a0001c0001t0028g0190
a0001c0001t0028g0191
a0001c0001t0030g0180
a0001c0001t0030g0181
a0001c0001t0031g0170
a0001c0001t0031g0178
a0001c0001t0032g0074
a0001c0001t0032g0077
a0001c0001t0033g0061
a0001c0001t0033g0089
a0001c0001t0034g0079
a0001c0001t0034g0099
a0001c0001t0035g0045
a0001c0001t0035g0162
a0001c0001t0036g0192
a0001c0001t0036g0194
a0001c0001t0037g0021
a0001c0001t0038g0065
a0001c0001t0038g0166
a0001c0001t0039g0055
a0001c0001t0040g0052
a0001c0001t0041g0097
a0001c0001t0042g0098
a0001c0001t0045g0069
a0001c0001t0046g0187
a0001c0001t0047g0186
a0001c0001t0048g0188
a0001c0001t0057g0036
a0001c0001t0058g0176
a0001c0001t0061g0075
a0001c0001t0062g0076
a0001c0001t0063g0164
a0001c0001t0064g0071
a0001c0001t0065g0068
a0001c0001t0067g0054
a0001c0001t0068g0037
a0001c0001t0069g0038
a0001c0001t0070g0046
a0001c0001t0071g0040
a0001c0001t0072g0053
a0001c0001t0073g0043
a0001c0001t0074g0193
a0001c0001t0075g0189
a0001c0001t0076g0195
a0001c0001t0077g0035
a0001c0001t0078g0063
a0001c0001t0079g0064
a0001c0001t0080g0059
a0001c0001t0081g0201
a0001c0002t0051g0154
a0001c0002t0052g0184
a0001c0002t0053g0155
a0001c0002t0054g0156
140 HG00099.hp2
HG00140.hp1
HG00280.hp2
others(137): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00621.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp2
HG01257.hp1
HG01346.hp2
HG01358.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp2
HG02015.hp2
HG02055.hp1
HG02109.hp2
HG02145.hp2
HG02148.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp2
HG03831.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18942.hp1
NA18960.hp2
NA18977.hp1
NA18979.hp1
NA18999.hp1
NA19005.hp2
NA19012.hp1
NA19030.hp2
NA19043.hp2
NA19062.hp1
NA19068.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA20805.hp2
NA20905.hp1
intron_variant MODIFIER c.753+168C>T
c.753+168C>T
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 8/8 chr12 123622468
chr12:123622487 G
G
A
A
3 a0001c0001t0068g0037
a0001c0001t0072g0053
a0001c0001t0073g0043
a0001c0001t0068g0037
a0001c0001t0072g0053
a0001c0001t0073g0043
3 HG01243.hp2
NA18522.hp2
NA19030.hp2
HG01243.hp2
NA18522.hp2
NA19030.hp2
intron_variant MODIFIER c.753+149C>T
c.753+149C>T
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 8/8 chr12 123622487
chr12:123623035 C
C
G
G
1 a0001c0001t0047g0186
a0001c0001t0047g0186
1 HG03453.hp2
HG03453.hp2
intron_variant MODIFIER c.628-274G>C
c.628-274G>C
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 7/8 chr12 123623035
chr12:123623113 G
G
A
A
1 a0001c0001t0046g0187
a0001c0001t0046g0187
1 HG03486.hp1
HG03486.hp1
intron_variant MODIFIER c.628-352C>T
c.628-352C>T
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 7/8 chr12 123623113
chr12:123623146 C
C
T
T
3 a0001c0001t0018g0051
a0001c0001t0028g0190
a0001c0001t0028g0191
a0001c0001t0018g0051
a0001c0001t0028g0190
a0001c0001t0028g0191
3 HG02145.hp2
HG02615.hp1
HG02895.hp2
HG02145.hp2
HG02615.hp1
HG02895.hp2
intron_variant MODIFIER c.628-385G>A
c.628-385G>A
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 7/8 chr12 123623146
chr12:123623242 A
A
G
G
2 a0001c0001t0028g0190
a0001c0001t0028g0191
a0001c0001t0028g0190
a0001c0001t0028g0191
2 HG02145.hp2
HG02895.hp2
HG02145.hp2
HG02895.hp2
intron_variant MODIFIER c.628-481T>C
c.628-481T>C
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 7/8 chr12 123623242
chr12:123623289 A
A
G
G
1 a0001c0001t0033g0061
a0001c0001t0033g0061
1 HG01074.hp2
HG01074.hp2
intron_variant MODIFIER c.628-528T>C
c.628-528T>C
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 7/8 chr12 123623289
chr12:123623339 C
C
T
T
2 a0001c0001t0016g0197
a0001c0001t0048g0188
a0001c0001t0016g0197
a0001c0001t0048g0188
2 HG02976.hp2
NA19240.hp1
HG02976.hp2
NA19240.hp1
intron_variant MODIFIER c.628-578G>A
c.628-578G>A
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 7/8 chr12 123623339
chr12:123623576 G
G
A
A
2 a0001c0001t0010g0198
a0001c0001t0013g0196
a0001c0001t0010g0198
a0001c0001t0013g0196
2 HG01099.hp1
NA18906.hp1
HG01099.hp1
NA18906.hp1
intron_variant MODIFIER c.628-815C>T
c.628-815C>T
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 7/8 chr12 123623576
chr12:123623749 T
T
C
C
106 a0001c0001t0001g0015
a0001c0001t0001g0175
a0001c0001t0003g0003
others(103): Show 
a0001c0001t0001g0015
a0001c0001t0001g0175
a0001c0001t0003g0003
a0001c0001t0003g0014
a0001c0001t0003g0017
a0001c0001t0003g0031
a0001c0001t0003g0034
a0001c0001t0003g0171
a0001c0001t0003g0173
a0001c0001t0003g0177
a0001c0001t0003g0179
a0001c0001t0003g0185
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0006g0136
a0001c0001t0010g0020
a0001c0001t0010g0060
a0001c0001t0010g0067
a0001c0001t0010g0070
a0001c0001t0010g0130
a0001c0001t0010g0198
a0001c0001t0011g0019
a0001c0001t0011g0032
a0001c0001t0011g0049
a0001c0001t0011g0050
a0001c0001t0013g0023
a0001c0001t0013g0056
a0001c0001t0013g0066
a0001c0001t0013g0196
a0001c0001t0014g0011
a0001c0001t0014g0096
a0001c0001t0016g0057
a0001c0001t0016g0058
a0001c0001t0016g0078
a0001c0001t0016g0197
a0001c0001t0017g0018
a0001c0001t0017g0042
a0001c0001t0017g0047
a0001c0001t0018g0039
a0001c0001t0018g0041
a0001c0001t0018g0051
a0001c0001t0018g0183
a0001c0001t0021g0016
a0001c0001t0022g0022
a0001c0001t0022g0073
a0001c0001t0023g0062
a0001c0001t0023g0072
a0001c0001t0023g0165
a0001c0001t0024g0044
a0001c0001t0024g0048
a0001c0001t0024g0163
a0001c0001t0025g0033
a0001c0001t0025g0182
a0001c0001t0026g0025
a0001c0001t0027g0026
a0001c0001t0028g0190
a0001c0001t0028g0191
a0001c0001t0031g0170
a0001c0001t0031g0178
a0001c0001t0032g0074
a0001c0001t0032g0077
a0001c0001t0033g0061
a0001c0001t0033g0089
a0001c0001t0034g0079
a0001c0001t0034g0099
a0001c0001t0035g0045
a0001c0001t0035g0162
a0001c0001t0036g0192
a0001c0001t0036g0194
a0001c0001t0037g0021
a0001c0001t0038g0065
a0001c0001t0038g0166
a0001c0001t0039g0055
a0001c0001t0040g0052
a0001c0001t0041g0097
a0001c0001t0042g0098
a0001c0001t0045g0069
a0001c0001t0046g0187
a0001c0001t0047g0186
a0001c0001t0048g0188
a0001c0001t0057g0036
a0001c0001t0058g0176
a0001c0001t0061g0075
a0001c0001t0062g0076
a0001c0001t0063g0164
a0001c0001t0064g0071
a0001c0001t0065g0068
a0001c0001t0067g0054
a0001c0001t0068g0037
a0001c0001t0069g0038
a0001c0001t0070g0046
a0001c0001t0071g0040
a0001c0001t0072g0053
a0001c0001t0073g0043
a0001c0001t0074g0193
a0001c0001t0075g0189
a0001c0001t0076g0195
a0001c0001t0077g0035
a0001c0001t0078g0063
a0001c0001t0079g0064
a0001c0001t0080g0059
a0001c0001t0081g0201
a0001c0002t0051g0154
a0001c0002t0052g0184
a0001c0002t0053g0155
a0001c0002t0054g0156
139 HG00099.hp2
HG00140.hp1
HG00280.hp2
others(136): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00621.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp2
HG01257.hp1
HG01346.hp2
HG01358.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp2
HG02015.hp2
HG02055.hp1
HG02109.hp2
HG02145.hp2
HG02148.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp2
HG03831.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18942.hp1
NA18960.hp2
NA18977.hp1
NA18979.hp1
NA18999.hp1
NA19005.hp2
NA19012.hp1
NA19030.hp2
NA19043.hp2
NA19062.hp1
NA19068.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA20805.hp2
NA20905.hp1
intron_variant MODIFIER c.628-988A>G
c.628-988A>G
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 7/8 chr12 123623749
chr12:123623787 A
A
G
G
1 a0001c0001t0046g0187
a0001c0001t0046g0187
1 HG03486.hp1
HG03486.hp1
intron_variant MODIFIER c.627+1000T>C
c.627+1000T>C
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 7/8 chr12 123623787
chr12:123623903 C
C
T
T
1 a0001c0001t0003g0173
a0001c0001t0003g0173
1 HG02148.hp1
HG02148.hp1
intron_variant MODIFIER c.627+884G>A
c.627+884G>A
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 7/8 chr12 123623903
chr12:123624056 T
T
A
A
1 a0001c0001t0008g0126
a0001c0001t0008g0126
1 NA19011.hp1
NA19011.hp1
intron_variant MODIFIER c.627+731A>T
c.627+731A>T
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 7/8 chr12 123624056
chr12:123624073 G
G
A
A
52 a0001c0001t0003g0003
a0001c0001t0003g0014
a0001c0001t0003g0017
others(49): Show 
a0001c0001t0003g0003
a0001c0001t0003g0014
a0001c0001t0003g0017
a0001c0001t0003g0031
a0001c0001t0003g0034
a0001c0001t0003g0171
a0001c0001t0003g0173
a0001c0001t0003g0177
a0001c0001t0003g0179
a0001c0001t0003g0185
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0011g0019
a0001c0001t0011g0032
a0001c0001t0011g0049
a0001c0001t0011g0050
a0001c0001t0017g0018
a0001c0001t0017g0042
a0001c0001t0017g0047
a0001c0001t0018g0039
a0001c0001t0018g0041
a0001c0001t0018g0051
a0001c0001t0018g0183
a0001c0001t0024g0044
a0001c0001t0024g0048
a0001c0001t0024g0163
a0001c0001t0025g0033
a0001c0001t0025g0182
a0001c0001t0028g0190
a0001c0001t0028g0191
a0001c0001t0034g0079
a0001c0001t0034g0099
a0001c0001t0035g0045
a0001c0001t0035g0162
a0001c0001t0036g0192
a0001c0001t0036g0194
a0001c0001t0045g0069
a0001c0001t0046g0187
a0001c0001t0047g0186
a0001c0001t0048g0188
a0001c0001t0067g0054
a0001c0001t0068g0037
a0001c0001t0069g0038
a0001c0001t0070g0046
a0001c0001t0071g0040
a0001c0001t0072g0053
a0001c0001t0073g0043
a0001c0001t0074g0193
a0001c0001t0075g0189
a0001c0001t0076g0195
a0001c0001t0077g0035
a0001c0001t0081g0201
73 HG00733.hp2
HG00735.hp2
HG00738.hp2
others(70): Show 
HG00733.hp2
HG00735.hp2
HG00738.hp2
HG01074.hp1
HG01081.hp2
HG01109.hp1
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp2
HG01346.hp2
HG01516.hp1
HG01934.hp2
HG01975.hp1
HG01978.hp1
HG02109.hp2
HG02145.hp2
HG02148.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03490.hp1
HG03492.hp1
HG03540.hp2
HG03579.hp2
HG03688.hp2
HG03831.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04204.hp2
NA18522.hp1
NA18522.hp2
NA18977.hp1
NA19005.hp2
NA19030.hp2
NA19043.hp2
NA20805.hp2
intron_variant MODIFIER c.627+714C>T
c.627+714C>T
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 7/8 chr12 123624073
chr12:123624106 TATAA
TATAA
T
T
16 a0001c0001t0010g0020
a0001c0001t0010g0130
a0001c0001t0013g0023
others(13): Show 
a0001c0001t0010g0020
a0001c0001t0010g0130
a0001c0001t0013g0023
a0001c0001t0013g0056
a0001c0001t0016g0057
a0001c0001t0022g0073
a0001c0001t0023g0062
a0001c0001t0023g0072
a0001c0001t0033g0061
a0001c0001t0037g0021
a0001c0001t0038g0065
a0001c0001t0038g0166
a0001c0001t0064g0071
a0001c0001t0078g0063
a0001c0001t0079g0064
a0001c0001t0080g0059
19 HG00280.hp2
HG00408.hp1
HG00621.hp2
others(16): Show 
HG00280.hp2
HG00408.hp1
HG00621.hp2
HG00673.hp1
HG01074.hp2
HG01081.hp1
HG02015.hp2
HG02523.hp1
HG03491.hp2
HG03492.hp2
HG04184.hp1
HG04199.hp2
NA18942.hp1
NA18979.hp1
NA18999.hp1
NA19012.hp1
NA19062.hp1
NA19068.hp1
NA20905.hp1
intron_variant MODIFIER c.627+677_627+680del
others(4): Show 
c.627+677_627+680delTTAT
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 7/8 chr12 123624106
chr12:123624152 G
G
A
A
105 a0001c0001t0001g0015
a0001c0001t0001g0175
a0001c0001t0003g0003
others(102): Show 
a0001c0001t0001g0015
a0001c0001t0001g0175
a0001c0001t0003g0003
a0001c0001t0003g0014
a0001c0001t0003g0017
a0001c0001t0003g0031
a0001c0001t0003g0034
a0001c0001t0003g0171
a0001c0001t0003g0173
a0001c0001t0003g0177
a0001c0001t0003g0179
a0001c0001t0003g0185
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0010g0020
a0001c0001t0010g0060
a0001c0001t0010g0067
a0001c0001t0010g0070
a0001c0001t0010g0130
a0001c0001t0010g0198
a0001c0001t0011g0019
a0001c0001t0011g0032
a0001c0001t0011g0049
a0001c0001t0011g0050
a0001c0001t0013g0023
a0001c0001t0013g0056
a0001c0001t0013g0066
a0001c0001t0013g0196
a0001c0001t0014g0011
a0001c0001t0014g0096
a0001c0001t0016g0057
a0001c0001t0016g0058
a0001c0001t0016g0078
a0001c0001t0016g0197
a0001c0001t0017g0018
a0001c0001t0017g0042
a0001c0001t0017g0047
a0001c0001t0018g0039
a0001c0001t0018g0041
a0001c0001t0018g0051
a0001c0001t0018g0183
a0001c0001t0021g0016
a0001c0001t0022g0022
a0001c0001t0022g0073
a0001c0001t0023g0062
a0001c0001t0023g0072
a0001c0001t0023g0165
a0001c0001t0024g0044
a0001c0001t0024g0048
a0001c0001t0024g0163
a0001c0001t0025g0033
a0001c0001t0025g0182
a0001c0001t0026g0025
a0001c0001t0027g0026
a0001c0001t0028g0190
a0001c0001t0028g0191
a0001c0001t0031g0170
a0001c0001t0031g0178
a0001c0001t0032g0074
a0001c0001t0032g0077
a0001c0001t0033g0061
a0001c0001t0033g0089
a0001c0001t0034g0079
a0001c0001t0034g0099
a0001c0001t0035g0045
a0001c0001t0035g0162
a0001c0001t0036g0192
a0001c0001t0036g0194
a0001c0001t0037g0021
a0001c0001t0038g0065
a0001c0001t0038g0166
a0001c0001t0039g0055
a0001c0001t0040g0052
a0001c0001t0041g0097
a0001c0001t0042g0098
a0001c0001t0045g0069
a0001c0001t0046g0187
a0001c0001t0047g0186
a0001c0001t0048g0188
a0001c0001t0057g0036
a0001c0001t0058g0176
a0001c0001t0061g0075
a0001c0001t0062g0076
a0001c0001t0063g0164
a0001c0001t0064g0071
a0001c0001t0065g0068
a0001c0001t0067g0054
a0001c0001t0068g0037
a0001c0001t0069g0038
a0001c0001t0070g0046
a0001c0001t0071g0040
a0001c0001t0072g0053
a0001c0001t0073g0043
a0001c0001t0074g0193
a0001c0001t0075g0189
a0001c0001t0076g0195
a0001c0001t0077g0035
a0001c0001t0078g0063
a0001c0001t0079g0064
a0001c0001t0080g0059
a0001c0001t0081g0201
a0001c0002t0051g0154
a0001c0002t0052g0184
a0001c0002t0053g0155
a0001c0002t0054g0156
138 HG00099.hp2
HG00140.hp1
HG00280.hp2
others(135): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00621.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp2
HG01257.hp1
HG01346.hp2
HG01358.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp2
HG02015.hp2
HG02055.hp1
HG02109.hp2
HG02145.hp2
HG02148.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03688.hp2
HG03831.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18942.hp1
NA18960.hp2
NA18977.hp1
NA18979.hp1
NA18999.hp1
NA19005.hp2
NA19012.hp1
NA19030.hp2
NA19043.hp2
NA19062.hp1
NA19068.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA20805.hp2
NA20905.hp1
intron_variant MODIFIER c.627+635C>T
c.627+635C>T
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 7/8 chr12 123624152
chr12:123624159 T
T
A
A
1 a0001c0001t0008g0127
a0001c0001t0008g0127
1 HG02738.hp2
HG02738.hp2
intron_variant MODIFIER c.627+628A>T
c.627+628A>T
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 7/8 chr12 123624159
chr12:123624256 C
C
CT
CT
34 a0001c0001t0001g0102
a0001c0001t0001g0138
a0001c0001t0002g0118
others(31): Show 
a0001c0001t0001g0102
a0001c0001t0001g0138
a0001c0001t0002g0118
a0001c0001t0002g0158
a0001c0001t0003g0003
a0001c0001t0003g0014
a0001c0001t0003g0017
a0001c0001t0003g0031
a0001c0001t0003g0034
a0001c0001t0003g0171
a0001c0001t0003g0173
a0001c0001t0003g0185
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0007g0100
a0001c0001t0007g0108
a0001c0001t0009g0091
a0001c0001t0011g0049
a0001c0001t0012g0117
a0001c0001t0017g0047
a0001c0001t0025g0033
a0001c0001t0025g0182
a0001c0001t0028g0190
a0001c0001t0028g0191
a0001c0001t0036g0192
a0001c0001t0036g0194
a0001c0001t0043g0107
a0001c0001t0044g0104
a0001c0001t0069g0038
a0001c0001t0075g0189
a0001c0001t0076g0195
a0001c0001t0077g0035
a0001c0001t0081g0201
a0002c0004t0002g0153
52 HG00597.hp2
HG00621.hp1
HG00733.hp2
others(49): Show 
HG00597.hp2
HG00621.hp1
HG00733.hp2
HG00738.hp2
HG01074.hp1
HG01081.hp2
HG01175.hp1
HG01243.hp1
HG01255.hp1
HG01346.hp2
HG01516.hp1
HG01934.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02015.hp1
HG02055.hp2
HG02109.hp1
HG02145.hp2
HG02148.hp1
HG02257.hp2
HG02486.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02723.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp2
HG02922.hp1
HG02970.hp1
HG02970.hp2
HG03017.hp2
HG03139.hp2
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03688.hp2
HG03831.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp2
HG04199.hp1
HG04204.hp2
NA18522.hp1
NA18977.hp1
NA18991.hp1
NA19043.hp2
NA19084.hp1
NA20805.hp2
intron_variant MODIFIER c.627+530dupA
c.627+530dupA
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 7/8 chr12 123624256
chr12:123624256 CT
CT
C
C
56 a0001c0001t0001g0015
a0001c0001t0001g0175
a0001c0001t0002g0128
others(53): Show 
a0001c0001t0001g0015
a0001c0001t0001g0175
a0001c0001t0002g0128
a0001c0001t0008g0129
a0001c0001t0010g0020
a0001c0001t0010g0060
a0001c0001t0010g0067
a0001c0001t0010g0070
a0001c0001t0010g0130
a0001c0001t0010g0198
a0001c0001t0013g0023
a0001c0001t0013g0056
a0001c0001t0013g0066
a0001c0001t0013g0196
a0001c0001t0014g0011
a0001c0001t0014g0096
a0001c0001t0016g0057
a0001c0001t0016g0058
a0001c0001t0016g0078
a0001c0001t0016g0197
a0001c0001t0021g0016
a0001c0001t0022g0022
a0001c0001t0022g0073
a0001c0001t0023g0062
a0001c0001t0023g0072
a0001c0001t0023g0165
a0001c0001t0026g0025
a0001c0001t0027g0026
a0001c0001t0031g0170
a0001c0001t0031g0178
a0001c0001t0032g0074
a0001c0001t0032g0077
a0001c0001t0033g0061
a0001c0001t0033g0089
a0001c0001t0037g0021
a0001c0001t0038g0065
a0001c0001t0038g0166
a0001c0001t0039g0055
a0001c0001t0040g0052
a0001c0001t0041g0097
a0001c0001t0042g0098
a0001c0001t0057g0036
a0001c0001t0058g0176
a0001c0001t0061g0075
a0001c0001t0062g0076
a0001c0001t0063g0164
a0001c0001t0064g0071
a0001c0001t0065g0068
a0001c0001t0074g0193
a0001c0001t0078g0063
a0001c0001t0079g0064
a0001c0001t0080g0059
a0001c0002t0051g0154
a0001c0002t0052g0184
a0001c0002t0053g0155
a0001c0002t0054g0156
68 HG00099.hp2
HG00140.hp1
HG00280.hp2
others(65): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00621.hp2
HG00673.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01168.hp1
HG01175.hp2
HG01256.hp1
HG01257.hp1
HG01358.hp1
HG01515.hp2
HG01517.hp1
HG01891.hp1
HG01891.hp2
HG01981.hp2
HG02015.hp2
HG02055.hp1
HG02258.hp2
HG02523.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG02965.hp1
HG03041.hp1
HG03098.hp1
HG03195.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp2
HG03491.hp2
HG03492.hp2
HG03540.hp1
HG03579.hp1
HG04184.hp1
HG04199.hp2
HG06807.hp1
NA18906.hp1
NA18906.hp2
NA18942.hp1
NA18960.hp2
NA18979.hp1
NA18999.hp1
NA19012.hp1
NA19062.hp1
NA19068.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA20905.hp1
intron_variant MODIFIER c.627+530delA
c.627+530delA
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 7/8 chr12 123624256
chr12:123624330 CT
CT
C
C
51 a0001c0001t0003g0003
a0001c0001t0003g0014
a0001c0001t0003g0017
others(48): Show 
a0001c0001t0003g0003
a0001c0001t0003g0014
a0001c0001t0003g0017
a0001c0001t0003g0031
a0001c0001t0003g0034
a0001c0001t0003g0171
a0001c0001t0003g0173
a0001c0001t0003g0177
a0001c0001t0003g0179
a0001c0001t0003g0185
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0011g0019
a0001c0001t0011g0032
a0001c0001t0011g0049
a0001c0001t0011g0050
a0001c0001t0017g0018
a0001c0001t0017g0042
a0001c0001t0017g0047
a0001c0001t0018g0039
a0001c0001t0018g0041
a0001c0001t0018g0051
a0001c0001t0018g0183
a0001c0001t0024g0044
a0001c0001t0024g0048
a0001c0001t0024g0163
a0001c0001t0025g0033
a0001c0001t0025g0182
a0001c0001t0028g0190
a0001c0001t0028g0191
a0001c0001t0034g0079
a0001c0001t0034g0099
a0001c0001t0035g0045
a0001c0001t0035g0162
a0001c0001t0036g0192
a0001c0001t0036g0194
a0001c0001t0045g0069
a0001c0001t0046g0187
a0001c0001t0047g0186
a0001c0001t0048g0188
a0001c0001t0067g0054
a0001c0001t0068g0037
a0001c0001t0069g0038
a0001c0001t0070g0046
a0001c0001t0071g0040
a0001c0001t0072g0053
a0001c0001t0073g0043
a0001c0001t0075g0189
a0001c0001t0076g0195
a0001c0001t0077g0035
a0001c0001t0081g0201
72 HG00733.hp2
HG00735.hp2
HG00738.hp2
others(69): Show 
HG00733.hp2
HG00735.hp2
HG00738.hp2
HG01074.hp1
HG01081.hp2
HG01109.hp1
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp2
HG01346.hp2
HG01516.hp1
HG01934.hp2
HG01975.hp1
HG01978.hp1
HG02109.hp2
HG02145.hp2
HG02148.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03490.hp1
HG03492.hp1
HG03540.hp2
HG03579.hp2
HG03688.hp2
HG03831.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04199.hp1
HG04204.hp2
NA18522.hp1
NA18522.hp2
NA18977.hp1
NA19005.hp2
NA19030.hp2
NA19043.hp2
NA20805.hp2
intron_variant MODIFIER c.627+456delA
c.627+456delA
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 7/8 chr12 123624330
chr12:123624361 T
T
C
C
1 a0001c0001t0009g0145
a0001c0001t0009g0145
1 HG01361.hp1
HG01361.hp1
intron_variant MODIFIER c.627+426A>G
c.627+426A>G
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 7/8 chr12 123624361
chr12:123624508 C
C
G
G
2 a0001c0001t0001g0102
a0001c0001t0007g0100
a0001c0001t0001g0102
a0001c0001t0007g0100
2 NA18991.hp1
NA19084.hp1
NA18991.hp1
NA19084.hp1
intron_variant MODIFIER c.627+279G>C
c.627+279G>C
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 7/8 chr12 123624508
chr12:123624561 A
A
G
G
7 a0001c0001t0017g0018
a0001c0001t0017g0042
a0001c0001t0024g0044
others(4): Show 
a0001c0001t0017g0018
a0001c0001t0017g0042
a0001c0001t0024g0044
a0001c0001t0024g0163
a0001c0001t0035g0045
a0001c0001t0035g0162
a0001c0001t0070g0046
8 HG02257.hp1
HG02258.hp1
HG02451.hp1
others(5): Show 
HG02257.hp1
HG02258.hp1
HG02451.hp1
HG02895.hp1
HG02897.hp1
HG02976.hp1
HG03209.hp1
HG03579.hp2
intron_variant MODIFIER c.627+226T>C
c.627+226T>C
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 7/8 chr12 123624561
chr12:123624716 C
C
T
T
1 a0001c0001t0002g0116
a0001c0001t0002g0116
1 NA20905.hp2
NA20905.hp2
intron_variant MODIFIER c.627+71G>A
c.627+71G>A
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 7/8 chr12 123624716
chr12:123624759 G
G
A
A
4 a0001c0002t0051g0154
a0001c0002t0052g0184
a0001c0002t0053g0155
others(1): Show 
a0001c0002t0051g0154
a0001c0002t0052g0184
a0001c0002t0053g0155
a0001c0002t0054g0156
4 HG02572.hp2
HG02809.hp1
HG02818.hp2
others(1): Show 
HG02572.hp2
HG02809.hp1
HG02818.hp2
NA19240.hp2
intron_variant MODIFIER c.627+28C>T
c.627+28C>T
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 7/8 chr12 123624759
chr12:123625068 C
C
T
T
4 a0001c0001t0018g0039
a0001c0001t0018g0041
a0001c0001t0067g0054
others(1): Show 
a0001c0001t0018g0039
a0001c0001t0018g0041
a0001c0001t0067g0054
a0001c0001t0071g0040
4 HG01109.hp1
HG01256.hp2
HG03540.hp2
others(1): Show 
HG01109.hp1
HG01256.hp2
HG03540.hp2
HG03942.hp1
intron_variant MODIFIER c.552-206G>A
c.552-206G>A
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 6/8 chr12 123625068
chr12:123625171 T
T
C
C
1 a0001c0001t0010g0070
a0001c0001t0010g0070
1 HG02622.hp2
HG02622.hp2
intron_variant MODIFIER c.552-309A>G
c.552-309A>G
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 6/8 chr12 123625171
chr12:123625287 A
A
T
T
1 a0001c0001t0067g0054
a0001c0001t0067g0054
1 HG03540.hp2
HG03540.hp2
intron_variant MODIFIER c.552-425T>A
c.552-425T>A
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 6/8 chr12 123625287
chr12:123625335 T
T
C
C
1 a0001c0001t0064g0071
a0001c0001t0064g0071
1 HG02015.hp2
HG02015.hp2
intron_variant MODIFIER c.552-473A>G
c.552-473A>G
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 6/8 chr12 123625335
chr12:123625441 G
G
A
A
25 a0001c0001t0001g0015
a0001c0001t0001g0175
a0001c0001t0002g0158
others(22): Show 
a0001c0001t0001g0015
a0001c0001t0001g0175
a0001c0001t0002g0158
a0001c0001t0002g0159
a0001c0001t0002g0160
a0001c0001t0002g0172
a0001c0001t0003g0003
a0001c0001t0003g0014
a0001c0001t0003g0017
a0001c0001t0003g0031
a0001c0001t0003g0034
a0001c0001t0003g0171
a0001c0001t0003g0173
a0001c0001t0003g0177
a0001c0001t0003g0179
a0001c0001t0003g0185
a0001c0001t0003g0200
a0001c0001t0004g0174
a0001c0001t0015g0157
a0001c0001t0021g0016
a0001c0001t0031g0170
a0001c0001t0031g0178
a0001c0001t0057g0036
a0001c0001t0058g0176
a0002c0004t0002g0153
46 HG00099.hp2
HG00140.hp1
HG00323.hp1
others(43): Show 
HG00099.hp2
HG00140.hp1
HG00323.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp2
HG01074.hp1
HG01081.hp2
HG01168.hp1
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01358.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01934.hp2
HG01981.hp2
HG02027.hp2
HG02055.hp2
HG02148.hp1
HG02257.hp2
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02698.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03017.hp2
HG03139.hp2
HG03225.hp1
HG03490.hp1
HG03492.hp1
HG03688.hp2
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04204.hp2
NA18522.hp1
NA18612.hp2
NA18960.hp2
NA18977.hp1
NA19005.hp2
NA19086.hp2
NA20805.hp2
intron_variant MODIFIER c.552-579C>T
c.552-579C>T
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 6/8 chr12 123625441
chr12:123625468 G
G
A
A
2 a0001c0001t0047g0186
a0001c0001t0081g0201
a0001c0001t0047g0186
a0001c0001t0081g0201
2 HG02970.hp1
HG03453.hp2
HG02970.hp1
HG03453.hp2
intron_variant MODIFIER c.552-606C>T
c.552-606C>T
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 6/8 chr12 123625468
chr12:123625470 T
T
C
C
22 a0001c0001t0003g0199
a0001c0001t0010g0198
a0001c0001t0011g0032
others(19): Show 
a0001c0001t0003g0199
a0001c0001t0010g0198
a0001c0001t0011g0032
a0001c0001t0013g0196
a0001c0001t0016g0197
a0001c0001t0018g0183
a0001c0001t0025g0033
a0001c0001t0025g0182
a0001c0001t0028g0190
a0001c0001t0028g0191
a0001c0001t0030g0180
a0001c0001t0030g0181
a0001c0001t0034g0079
a0001c0001t0036g0192
a0001c0001t0036g0194
a0001c0001t0047g0186
a0001c0001t0048g0188
a0001c0001t0074g0193
a0001c0001t0075g0189
a0001c0001t0076g0195
a0001c0001t0077g0035
a0001c0001t0081g0201
24 HG01099.hp1
HG01243.hp1
HG01346.hp2
others(21): Show 
HG01099.hp1
HG01243.hp1
HG01346.hp2
HG01884.hp1
HG01975.hp1
HG01978.hp1
HG02145.hp2
HG02559.hp1
HG02572.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02886.hp2
HG02895.hp2
HG02970.hp1
HG02976.hp2
HG03098.hp1
HG03209.hp2
HG03453.hp2
NA18906.hp1
NA19043.hp2
NA19240.hp1
intron_variant MODIFIER c.552-608A>G
c.552-608A>G
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 6/8 chr12 123625470
chr12:123625497 T
T
A
A
9 a0001c0001t0011g0032
a0001c0001t0018g0183
a0001c0001t0025g0182
others(6): Show 
a0001c0001t0011g0032
a0001c0001t0018g0183
a0001c0001t0025g0182
a0001c0001t0030g0180
a0001c0001t0030g0181
a0001c0001t0034g0079
a0001c0001t0047g0186
a0001c0001t0048g0188
a0001c0001t0081g0201
10 HG01243.hp1
HG01884.hp1
HG02559.hp1
others(7): Show 
HG01243.hp1
HG01884.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp2
HG02630.hp1
HG02970.hp1
HG02976.hp2
HG03209.hp2
HG03453.hp2
intron_variant MODIFIER c.552-635A>T
c.552-635A>T
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 6/8 chr12 123625497
chr12:123625533 C
C
T
T
1 a0001c0001t0010g0060
a0001c0001t0010g0060
1 NA20129.hp1
NA20129.hp1
intron_variant MODIFIER c.552-671G>A
c.552-671G>A
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 6/8 chr12 123625533
chr12:123625569 C
C
T
T
1 a0001c0001t0031g0170
a0001c0001t0031g0170
1 HG01168.hp1
HG01168.hp1
intron_variant MODIFIER c.552-707G>A
c.552-707G>A
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 6/8 chr12 123625569
chr12:123625575 A
A
T
T
25 a0001c0001t0001g0015
a0001c0001t0001g0175
a0001c0001t0002g0158
others(22): Show 
a0001c0001t0001g0015
a0001c0001t0001g0175
a0001c0001t0002g0158
a0001c0001t0002g0159
a0001c0001t0002g0160
a0001c0001t0002g0172
a0001c0001t0003g0003
a0001c0001t0003g0014
a0001c0001t0003g0017
a0001c0001t0003g0031
a0001c0001t0003g0034
a0001c0001t0003g0171
a0001c0001t0003g0173
a0001c0001t0003g0177
a0001c0001t0003g0179
a0001c0001t0003g0185
a0001c0001t0003g0200
a0001c0001t0004g0174
a0001c0001t0015g0157
a0001c0001t0021g0016
a0001c0001t0031g0170
a0001c0001t0031g0178
a0001c0001t0057g0036
a0001c0001t0058g0176
a0002c0004t0002g0153
46 HG00099.hp2
HG00140.hp1
HG00323.hp1
others(43): Show 
HG00099.hp2
HG00140.hp1
HG00323.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp2
HG01074.hp1
HG01081.hp2
HG01168.hp1
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01358.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01934.hp2
HG01981.hp2
HG02027.hp2
HG02055.hp2
HG02148.hp1
HG02257.hp2
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02698.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03017.hp2
HG03139.hp2
HG03225.hp1
HG03490.hp1
HG03492.hp1
HG03688.hp2
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04204.hp2
NA18522.hp1
NA18612.hp2
NA18960.hp2
NA18977.hp1
NA19005.hp2
NA19086.hp2
NA20805.hp2
intron_variant MODIFIER c.552-713T>A
c.552-713T>A
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 6/8 chr12 123625575
chr12:123625614 T
T
C
C
3 a0001c0001t0005g0086
a0001c0001t0006g0088
a0001c0001t0007g0087
a0001c0001t0005g0086
a0001c0001t0006g0088
a0001c0001t0007g0087
3 HG00544.hp2
NA18948.hp2
NA18988.hp1
HG00544.hp2
NA18948.hp2
NA18988.hp1
intron_variant MODIFIER c.552-752A>G
c.552-752A>G
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 6/8 chr12 123625614
chr12:123625688 T
T
C
C
4 a0001c0001t0011g0019
a0001c0001t0011g0049
a0001c0001t0011g0050
others(1): Show 
a0001c0001t0011g0019
a0001c0001t0011g0049
a0001c0001t0011g0050
a0001c0001t0040g0052
5 HG02486.hp1
HG02717.hp1
HG02896.hp1
others(2): Show 
HG02486.hp1
HG02717.hp1
HG02896.hp1
HG02897.hp2
HG03471.hp1
intron_variant MODIFIER c.551+737A>G
c.551+737A>G
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 6/8 chr12 123625688
chr12:123625968 T
T
A
A
2 a0001c0001t0003g0017
a0001c0001t0003g0200
a0001c0001t0003g0017
a0001c0001t0003g0200
4 HG02257.hp2
HG02922.hp1
HG03225.hp1
others(1): Show 
HG02257.hp2
HG02922.hp1
HG03225.hp1
NA18522.hp1
intron_variant MODIFIER c.551+457A>T
c.551+457A>T
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 6/8 chr12 123625968
chr12:123626074 A
A
C
C
3 a0001c0001t0004g0114
a0001c0001t0007g0106
a0001c0001t0008g0115
a0001c0001t0004g0114
a0001c0001t0007g0106
a0001c0001t0008g0115
3 HG02132.hp2
NA18953.hp2
NA19000.hp2
HG02132.hp2
NA18953.hp2
NA19000.hp2
intron_variant MODIFIER c.551+351T>G
c.551+351T>G
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 6/8 chr12 123626074
chr12:123626128 A
A
G
G
45 a0001c0001t0003g0199
a0001c0001t0010g0198
a0001c0001t0011g0019
others(42): Show 
a0001c0001t0003g0199
a0001c0001t0010g0198
a0001c0001t0011g0019
a0001c0001t0011g0032
a0001c0001t0011g0049
a0001c0001t0011g0050
a0001c0001t0013g0196
a0001c0001t0016g0197
a0001c0001t0017g0018
a0001c0001t0017g0042
a0001c0001t0017g0047
a0001c0001t0018g0039
a0001c0001t0018g0041
a0001c0001t0018g0051
a0001c0001t0018g0183
a0001c0001t0024g0044
a0001c0001t0024g0048
a0001c0001t0024g0163
a0001c0001t0025g0033
a0001c0001t0025g0182
a0001c0001t0028g0190
a0001c0001t0028g0191
a0001c0001t0030g0180
a0001c0001t0030g0181
a0001c0001t0034g0079
a0001c0001t0035g0045
a0001c0001t0035g0162
a0001c0001t0036g0192
a0001c0001t0036g0194
a0001c0001t0040g0052
a0001c0001t0046g0187
a0001c0001t0047g0186
a0001c0001t0048g0188
a0001c0001t0067g0054
a0001c0001t0068g0037
a0001c0001t0069g0038
a0001c0001t0070g0046
a0001c0001t0071g0040
a0001c0001t0072g0053
a0001c0001t0073g0043
a0001c0001t0074g0193
a0001c0001t0075g0189
a0001c0001t0076g0195
a0001c0001t0077g0035
a0001c0001t0081g0201
49 HG01099.hp1
HG01109.hp1
HG01243.hp1
others(46): Show 
HG01099.hp1
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01346.hp2
HG01884.hp1
HG01975.hp1
HG01978.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03540.hp2
HG03579.hp2
HG03942.hp1
HG04199.hp1
NA18522.hp2
NA18906.hp1
NA19030.hp2
NA19043.hp2
NA19240.hp1
intron_variant MODIFIER c.551+297T>C
c.551+297T>C
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 6/8 chr12 123626128
chr12:123626143 AAAAC
AAAAC
A
A
3 a0001c0001t0068g0037
a0001c0001t0072g0053
a0001c0001t0073g0043
a0001c0001t0068g0037
a0001c0001t0072g0053
a0001c0001t0073g0043
3 HG01243.hp2
NA18522.hp2
NA19030.hp2
HG01243.hp2
NA18522.hp2
NA19030.hp2
intron_variant MODIFIER c.551+278_551+281del
others(4): Show 
c.551+278_551+281delGTTT
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 6/8 chr12 123626143
chr12:123626338 C
C
T
T
17 a0001c0001t0003g0199
a0001c0001t0010g0198
a0001c0001t0013g0196
others(14): Show 
a0001c0001t0003g0199
a0001c0001t0010g0198
a0001c0001t0013g0196
a0001c0001t0016g0197
a0001c0001t0025g0033
a0001c0001t0028g0190
a0001c0001t0028g0191
a0001c0001t0036g0192
a0001c0001t0036g0194
a0001c0001t0046g0187
a0001c0001t0047g0186
a0001c0001t0048g0188
a0001c0001t0074g0193
a0001c0001t0075g0189
a0001c0001t0076g0195
a0001c0001t0077g0035
a0001c0001t0081g0201
18 HG01099.hp1
HG01346.hp2
HG01975.hp1
others(15): Show 
HG01099.hp1
HG01346.hp2
HG01975.hp1
HG01978.hp1
HG02145.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02886.hp2
HG02895.hp2
HG02970.hp1
HG02976.hp2
HG03098.hp1
HG03453.hp2
HG03486.hp1
NA18906.hp1
NA19043.hp2
NA19240.hp1
intron_variant MODIFIER c.551+87G>A
c.551+87G>A
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 6/8 chr12 123626338
chr12:123626387 G
G
T
T
30 a0001c0001t0010g0020
a0001c0001t0010g0060
a0001c0001t0010g0067
others(27): Show 
a0001c0001t0010g0020
a0001c0001t0010g0060
a0001c0001t0010g0067
a0001c0001t0010g0070
a0001c0001t0013g0023
a0001c0001t0013g0056
a0001c0001t0013g0066
a0001c0001t0016g0057
a0001c0001t0016g0058
a0001c0001t0016g0078
a0001c0001t0022g0022
a0001c0001t0022g0073
a0001c0001t0023g0062
a0001c0001t0023g0072
a0001c0001t0023g0165
a0001c0001t0032g0074
a0001c0001t0032g0077
a0001c0001t0033g0061
a0001c0001t0037g0021
a0001c0001t0038g0065
a0001c0001t0038g0166
a0001c0001t0045g0069
a0001c0001t0061g0075
a0001c0001t0062g0076
a0001c0001t0063g0164
a0001c0001t0064g0071
a0001c0001t0065g0068
a0001c0001t0078g0063
a0001c0001t0079g0064
a0001c0001t0080g0059
34 HG00280.hp2
HG00408.hp1
HG00621.hp2
others(31): Show 
HG00280.hp2
HG00408.hp1
HG00621.hp2
HG00673.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01175.hp2
HG01891.hp2
HG02015.hp2
HG02109.hp2
HG02523.hp1
HG02622.hp1
HG02622.hp2
HG02698.hp1
HG02717.hp2
HG02735.hp1
HG02818.hp1
HG02896.hp2
HG03041.hp1
HG03195.hp2
HG03491.hp2
HG03492.hp2
HG04184.hp1
HG04199.hp2
NA18906.hp2
NA18979.hp1
NA18999.hp1
NA19012.hp1
NA19062.hp1
NA19068.hp1
NA20129.hp1
NA20300.hp2
NA20905.hp1
intron_variant MODIFIER c.551+38C>A
c.551+38C>A
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 6/8 chr12 123626387
chr12:123626515 C
C
A
A
28 a0001c0001t0011g0019
a0001c0001t0011g0032
a0001c0001t0011g0049
others(25): Show 
a0001c0001t0011g0019
a0001c0001t0011g0032
a0001c0001t0011g0049
a0001c0001t0011g0050
a0001c0001t0017g0018
a0001c0001t0017g0042
a0001c0001t0017g0047
a0001c0001t0018g0039
a0001c0001t0018g0041
a0001c0001t0018g0051
a0001c0001t0018g0183
a0001c0001t0024g0044
a0001c0001t0024g0048
a0001c0001t0024g0163
a0001c0001t0025g0182
a0001c0001t0030g0180
a0001c0001t0030g0181
a0001c0001t0034g0079
a0001c0001t0035g0045
a0001c0001t0035g0162
a0001c0001t0040g0052
a0001c0001t0067g0054
a0001c0001t0068g0037
a0001c0001t0069g0038
a0001c0001t0070g0046
a0001c0001t0071g0040
a0001c0001t0072g0053
a0001c0001t0073g0043
31 HG01109.hp1
HG01243.hp1
HG01243.hp2
others(28): Show 
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01884.hp1
HG02257.hp1
HG02258.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02717.hp1
HG02809.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02976.hp1
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03471.hp1
HG03540.hp2
HG03579.hp2
HG03942.hp1
HG04199.hp1
NA18522.hp2
NA19030.hp2
intron_variant MODIFIER c.483-22G>T
c.483-22G>T
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 5/8 chr12 123626515
chr12:123626796 A
A
G
G
1 a0001c0001t0081g0201
a0001c0001t0081g0201
1 HG02970.hp1
HG02970.hp1
intron_variant MODIFIER c.482+248T>C
c.482+248T>C
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 5/8 chr12 123626796
chr12:123626799 TTCA
TTCA
T
T
2 a0001c0001t0025g0033
a0001c0001t0036g0192
a0001c0001t0025g0033
a0001c0001t0036g0192
3 HG01346.hp2
HG01975.hp1
HG01978.hp1
HG01346.hp2
HG01975.hp1
HG01978.hp1
intron_variant MODIFIER c.482+242_482+244del
others(3): Show 
c.482+242_482+244delTGA
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 5/8 chr12 123626799
chr12:123626804 C
C
T
T
1 a0001c0001t0002g0113
a0001c0001t0002g0113
1 HG00423.hp2
HG00423.hp2
intron_variant MODIFIER c.482+240G>A
c.482+240G>A
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 5/8 chr12 123626804
chr12:123626919 T
T
C
C
1 a0001c0001t0001g0111
a0001c0001t0001g0111
1 HG00741.hp2
HG00741.hp2
intron_variant MODIFIER c.482+125A>G
c.482+125A>G
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 5/8 chr12 123626919
chr12:123627176 T
T
C
C
76 a0001c0001t0003g0199
a0001c0001t0010g0020
a0001c0001t0010g0060
others(73): Show 
a0001c0001t0003g0199
a0001c0001t0010g0020
a0001c0001t0010g0060
a0001c0001t0010g0067
a0001c0001t0010g0070
a0001c0001t0010g0198
a0001c0001t0011g0019
a0001c0001t0011g0032
a0001c0001t0011g0049
a0001c0001t0011g0050
a0001c0001t0013g0023
a0001c0001t0013g0056
a0001c0001t0013g0066
a0001c0001t0013g0196
a0001c0001t0016g0057
a0001c0001t0016g0058
a0001c0001t0016g0078
a0001c0001t0016g0197
a0001c0001t0017g0018
a0001c0001t0017g0042
a0001c0001t0017g0047
a0001c0001t0018g0039
a0001c0001t0018g0041
a0001c0001t0018g0051
a0001c0001t0018g0183
a0001c0001t0022g0022
a0001c0001t0022g0073
a0001c0001t0023g0062
a0001c0001t0023g0072
a0001c0001t0023g0165
a0001c0001t0024g0044
a0001c0001t0024g0048
a0001c0001t0024g0163
a0001c0001t0025g0033
a0001c0001t0025g0182
a0001c0001t0028g0190
a0001c0001t0028g0191
a0001c0001t0030g0180
a0001c0001t0030g0181
a0001c0001t0032g0074
a0001c0001t0032g0077
a0001c0001t0033g0061
a0001c0001t0034g0079
a0001c0001t0035g0045
a0001c0001t0035g0162
a0001c0001t0036g0192
a0001c0001t0036g0194
a0001c0001t0037g0021
a0001c0001t0038g0065
a0001c0001t0038g0166
a0001c0001t0039g0055
a0001c0001t0040g0052
a0001c0001t0045g0069
a0001c0001t0046g0187
a0001c0001t0047g0186
a0001c0001t0048g0188
a0001c0001t0061g0075
a0001c0001t0062g0076
a0001c0001t0063g0164
a0001c0001t0064g0071
a0001c0001t0065g0068
a0001c0001t0067g0054
a0001c0001t0068g0037
a0001c0001t0069g0038
a0001c0001t0070g0046
a0001c0001t0071g0040
a0001c0001t0072g0053
a0001c0001t0073g0043
a0001c0001t0074g0193
a0001c0001t0075g0189
a0001c0001t0076g0195
a0001c0001t0077g0035
a0001c0001t0078g0063
a0001c0001t0079g0064
a0001c0001t0080g0059
a0001c0001t0081g0201
84 HG00280.hp2
HG00408.hp1
HG00621.hp2
others(81): Show 
HG00280.hp2
HG00408.hp1
HG00621.hp2
HG00673.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01346.hp2
HG01884.hp1
HG01891.hp2
HG01975.hp1
HG01978.hp1
HG02015.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03491.hp2
HG03492.hp2
HG03540.hp2
HG03579.hp2
HG03942.hp1
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18979.hp1
NA18999.hp1
NA19012.hp1
NA19030.hp2
NA19043.hp2
NA19062.hp1
NA19068.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp2
NA20905.hp1
intron_variant MODIFIER c.370-20A>G
c.370-20A>G
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 4/8 chr12 123627176
chr12:123627237 G
G
A
A
1 a0001c0001t0067g0054
a0001c0001t0067g0054
1 HG03540.hp2
HG03540.hp2
intron_variant MODIFIER c.370-81C>T
c.370-81C>T
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 4/8 chr12 123627237
chr12:123627245 A
A
T
T
1 a0001c0001t0013g0196
a0001c0001t0013g0196
1 NA18906.hp1
NA18906.hp1
intron_variant MODIFIER c.370-89T>A
c.370-89T>A
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 4/8 chr12 123627245
chr12:123627319 G
G
C
C
1 a0001c0001t0001g0131
a0001c0001t0001g0131
1 HG04204.hp1
HG04204.hp1
intron_variant MODIFIER c.370-163C>G
c.370-163C>G
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 4/8 chr12 123627319
chr12:123627452 T
T
C
C
26 a0001c0001t0001g0015
a0001c0001t0001g0175
a0001c0001t0002g0158
others(23): Show 
a0001c0001t0001g0015
a0001c0001t0001g0175
a0001c0001t0002g0158
a0001c0001t0002g0159
a0001c0001t0002g0160
a0001c0001t0002g0172
a0001c0001t0003g0003
a0001c0001t0003g0014
a0001c0001t0003g0017
a0001c0001t0003g0031
a0001c0001t0003g0034
a0001c0001t0003g0171
a0001c0001t0003g0173
a0001c0001t0003g0177
a0001c0001t0003g0179
a0001c0001t0003g0185
a0001c0001t0003g0200
a0001c0001t0004g0132
a0001c0001t0004g0174
a0001c0001t0015g0157
a0001c0001t0021g0016
a0001c0001t0031g0170
a0001c0001t0031g0178
a0001c0001t0057g0036
a0001c0001t0058g0176
a0002c0004t0002g0153
47 HG00099.hp2
HG00140.hp1
HG00323.hp1
others(44): Show 
HG00099.hp2
HG00140.hp1
HG00323.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp2
HG01074.hp1
HG01081.hp2
HG01106.hp2
HG01168.hp1
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01358.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01934.hp2
HG01981.hp2
HG02027.hp2
HG02055.hp2
HG02148.hp1
HG02257.hp2
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02698.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03017.hp2
HG03139.hp2
HG03225.hp1
HG03490.hp1
HG03492.hp1
HG03688.hp2
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04204.hp2
NA18522.hp1
NA18612.hp2
NA18960.hp2
NA18977.hp1
NA19005.hp2
NA19086.hp2
NA20805.hp2
intron_variant MODIFIER c.370-296A>G
c.370-296A>G
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 4/8 chr12 123627452
chr12:123627527 G
G
T
T
2 a0001c0001t0012g0083
a0001c0001t0012g0084
a0001c0001t0012g0083
a0001c0001t0012g0084
2 HG00597.hp1
NA19060.hp1
HG00597.hp1
NA19060.hp1
intron_variant MODIFIER c.370-371C>A
c.370-371C>A
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 4/8 chr12 123627527
chr12:123627674 T
T
C
C
17 a0001c0001t0003g0199
a0001c0001t0010g0198
a0001c0001t0013g0196
others(14): Show 
a0001c0001t0003g0199
a0001c0001t0010g0198
a0001c0001t0013g0196
a0001c0001t0016g0197
a0001c0001t0025g0033
a0001c0001t0028g0190
a0001c0001t0028g0191
a0001c0001t0036g0192
a0001c0001t0036g0194
a0001c0001t0046g0187
a0001c0001t0047g0186
a0001c0001t0048g0188
a0001c0001t0074g0193
a0001c0001t0075g0189
a0001c0001t0076g0195
a0001c0001t0077g0035
a0001c0001t0081g0201
18 HG01099.hp1
HG01346.hp2
HG01975.hp1
others(15): Show 
HG01099.hp1
HG01346.hp2
HG01975.hp1
HG01978.hp1
HG02145.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02886.hp2
HG02895.hp2
HG02970.hp1
HG02976.hp2
HG03098.hp1
HG03453.hp2
HG03486.hp1
NA18906.hp1
NA19043.hp2
NA19240.hp1
intron_variant MODIFIER c.370-518A>G
c.370-518A>G
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 4/8 chr12 123627674
chr12:123627696 C
C
CA
CA
13 a0001c0001t0003g0199
a0001c0001t0010g0198
a0001c0001t0013g0196
others(10): Show 
a0001c0001t0003g0199
a0001c0001t0010g0198
a0001c0001t0013g0196
a0001c0001t0016g0197
a0001c0001t0025g0033
a0001c0001t0028g0190
a0001c0001t0028g0191
a0001c0001t0036g0192
a0001c0001t0036g0194
a0001c0001t0074g0193
a0001c0001t0075g0189
a0001c0001t0076g0195
a0001c0001t0077g0035
14 HG01099.hp1
HG01346.hp2
HG01975.hp1
others(11): Show 
HG01099.hp1
HG01346.hp2
HG01975.hp1
HG01978.hp1
HG02145.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02886.hp2
HG02895.hp2
HG03098.hp1
NA18906.hp1
NA19043.hp2
NA19240.hp1
intron_variant MODIFIER c.370-541dupT
c.370-541dupT
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 4/8 chr12 123627696
chr12:123627899 G
G
T
T
17 a0001c0001t0003g0199
a0001c0001t0010g0198
a0001c0001t0013g0196
others(14): Show 
a0001c0001t0003g0199
a0001c0001t0010g0198
a0001c0001t0013g0196
a0001c0001t0016g0197
a0001c0001t0025g0033
a0001c0001t0028g0190
a0001c0001t0028g0191
a0001c0001t0036g0192
a0001c0001t0036g0194
a0001c0001t0046g0187
a0001c0001t0047g0186
a0001c0001t0048g0188
a0001c0001t0074g0193
a0001c0001t0075g0189
a0001c0001t0076g0195
a0001c0001t0077g0035
a0001c0001t0081g0201
18 HG01099.hp1
HG01346.hp2
HG01975.hp1
others(15): Show 
HG01099.hp1
HG01346.hp2
HG01975.hp1
HG01978.hp1
HG02145.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02886.hp2
HG02895.hp2
HG02970.hp1
HG02976.hp2
HG03098.hp1
HG03453.hp2
HG03486.hp1
NA18906.hp1
NA19043.hp2
NA19240.hp1
intron_variant MODIFIER c.370-743C>A
c.370-743C>A
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 4/8 chr12 123627899
chr12:123628015 T
T
C
C
17 a0001c0001t0003g0199
a0001c0001t0010g0198
a0001c0001t0013g0196
others(14): Show 
a0001c0001t0003g0199
a0001c0001t0010g0198
a0001c0001t0013g0196
a0001c0001t0016g0197
a0001c0001t0025g0033
a0001c0001t0028g0190
a0001c0001t0028g0191
a0001c0001t0036g0192
a0001c0001t0036g0194
a0001c0001t0046g0187
a0001c0001t0047g0186
a0001c0001t0048g0188
a0001c0001t0074g0193
a0001c0001t0075g0189
a0001c0001t0076g0195
a0001c0001t0077g0035
a0001c0001t0081g0201
18 HG01099.hp1
HG01346.hp2
HG01975.hp1
others(15): Show 
HG01099.hp1
HG01346.hp2
HG01975.hp1
HG01978.hp1
HG02145.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02886.hp2
HG02895.hp2
HG02970.hp1
HG02976.hp2
HG03098.hp1
HG03453.hp2
HG03486.hp1
NA18906.hp1
NA19043.hp2
NA19240.hp1
intron_variant MODIFIER c.370-859A>G
c.370-859A>G
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 4/8 chr12 123628015
chr12:123628057 G
G
A
A
4 a0001c0002t0051g0154
a0001c0002t0052g0184
a0001c0002t0053g0155
others(1): Show 
a0001c0002t0051g0154
a0001c0002t0052g0184
a0001c0002t0053g0155
a0001c0002t0054g0156
4 HG02572.hp2
HG02809.hp1
HG02818.hp2
others(1): Show 
HG02572.hp2
HG02809.hp1
HG02818.hp2
NA19240.hp2
intron_variant MODIFIER c.370-901C>T
c.370-901C>T
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 4/8 chr12 123628057
chr12:123628097 C
C
G
G
1 a0001c0001t0001g0112
a0001c0001t0001g0112
1 HG02155.hp2
HG02155.hp2
intron_variant MODIFIER c.370-941G>C
c.370-941G>C
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 4/8 chr12 123628097
chr12:123628141 G
G
A
A
1 a0001c0001t0031g0178
a0001c0001t0031g0178
1 HG00099.hp2
HG00099.hp2
intron_variant MODIFIER c.370-985C>T
c.370-985C>T
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 4/8 chr12 123628141
chr12:123628158 C
C
T
T
1 a0001c0001t0008g0140
a0001c0001t0008g0140
1 HG00558.hp2
HG00558.hp2
intron_variant MODIFIER c.370-1002G>A
c.370-1002G>A
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 4/8 chr12 123628158
chr12:123628271 G
G
C
C
1 a0001c0001t0063g0164
a0001c0001t0063g0164
1 HG02818.hp1
HG02818.hp1
intron_variant MODIFIER c.370-1115C>G
c.370-1115C>G
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 4/8 chr12 123628271
chr12:123628318 T
T
C
C
17 a0001c0001t0003g0199
a0001c0001t0010g0198
a0001c0001t0013g0196
others(14): Show 
a0001c0001t0003g0199
a0001c0001t0010g0198
a0001c0001t0013g0196
a0001c0001t0016g0197
a0001c0001t0025g0033
a0001c0001t0028g0190
a0001c0001t0028g0191
a0001c0001t0036g0192
a0001c0001t0036g0194
a0001c0001t0046g0187
a0001c0001t0047g0186
a0001c0001t0048g0188
a0001c0001t0074g0193
a0001c0001t0075g0189
a0001c0001t0076g0195
a0001c0001t0077g0035
a0001c0001t0081g0201
18 HG01099.hp1
HG01346.hp2
HG01975.hp1
others(15): Show 
HG01099.hp1
HG01346.hp2
HG01975.hp1
HG01978.hp1
HG02145.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02886.hp2
HG02895.hp2
HG02970.hp1
HG02976.hp2
HG03098.hp1
HG03453.hp2
HG03486.hp1
NA18906.hp1
NA19043.hp2
NA19240.hp1
intron_variant MODIFIER c.370-1162A>G
c.370-1162A>G
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 4/8 chr12 123628318
chr12:123628338 A
A
T
T
1 a0001c0001t0012g0083
a0001c0001t0012g0083
1 HG00597.hp1
HG00597.hp1
intron_variant MODIFIER c.370-1182T>A
c.370-1182T>A
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 4/8 chr12 123628338
chr12:123628345 T
T
A
A
4 a0001c0002t0051g0154
a0001c0002t0052g0184
a0001c0002t0053g0155
others(1): Show 
a0001c0002t0051g0154
a0001c0002t0052g0184
a0001c0002t0053g0155
a0001c0002t0054g0156
4 HG02572.hp2
HG02809.hp1
HG02818.hp2
others(1): Show 
HG02572.hp2
HG02809.hp1
HG02818.hp2
NA19240.hp2
intron_variant MODIFIER c.370-1189A>T
c.370-1189A>T
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 4/8 chr12 123628345
chr12:123628351 C
C
CT
CT
57 a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0111
others(54): Show 
a0001c0001t0001g0008
a0001c0001t0001g0015
a0001c0001t0001g0111
a0001c0001t0001g0138
a0001c0001t0002g0172
a0001c0001t0003g0031
a0001c0001t0003g0173
a0001c0001t0003g0179
a0001c0001t0004g0109
a0001c0001t0004g0146
a0001c0001t0005g0101
a0001c0001t0006g0110
a0001c0001t0006g0139
a0001c0001t0006g0169
a0001c0001t0007g0082
a0001c0001t0007g0100
a0001c0001t0007g0106
a0001c0001t0007g0108
a0001c0001t0009g0145
a0001c0001t0010g0020
a0001c0001t0010g0060
a0001c0001t0010g0067
a0001c0001t0010g0070
a0001c0001t0011g0049
a0001c0001t0011g0050
a0001c0001t0013g0056
a0001c0001t0013g0066
a0001c0001t0014g0096
a0001c0001t0015g0157
a0001c0001t0016g0057
a0001c0001t0016g0058
a0001c0001t0017g0047
a0001c0001t0021g0016
a0001c0001t0022g0022
a0001c0001t0022g0073
a0001c0001t0023g0062
a0001c0001t0024g0048
a0001c0001t0032g0077
a0001c0001t0033g0061
a0001c0001t0037g0021
a0001c0001t0038g0065
a0001c0001t0038g0166
a0001c0001t0039g0055
a0001c0001t0043g0107
a0001c0001t0045g0069
a0001c0001t0046g0187
a0001c0001t0048g0188
a0001c0001t0050g0090
a0001c0001t0061g0075
a0001c0001t0062g0076
a0001c0001t0064g0071
a0001c0001t0065g0068
a0001c0001t0069g0038
a0001c0001t0078g0063
a0001c0001t0079g0064
a0001c0001t0081g0201
a0002c0004t0002g0153
69 HG00140.hp1
HG00280.hp2
HG00408.hp1
others(66): Show 
HG00140.hp1
HG00280.hp2
HG00408.hp1
HG00597.hp2
HG00673.hp1
HG00735.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01109.hp2
HG01257.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01515.hp2
HG01517.hp1
HG01891.hp2
HG01934.hp2
HG01981.hp2
HG02015.hp2
HG02055.hp2
HG02109.hp2
HG02145.hp1
HG02148.hp1
HG02165.hp2
HG02451.hp2
HG02486.hp1
HG02523.hp1
HG02622.hp1
HG02622.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02809.hp2
HG02970.hp1
HG02976.hp2
HG03041.hp1
HG03139.hp1
HG03195.hp2
HG03471.hp1
HG03486.hp1
HG03688.hp2
HG03831.hp2
HG03927.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
NA18612.hp2
NA18906.hp2
NA18953.hp1
NA18955.hp2
NA18972.hp1
NA18979.hp1
NA18979.hp2
NA18991.hp1
NA18991.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19012.hp1
NA19062.hp1
NA19062.hp2
NA19068.hp1
NA20129.hp1
NA20300.hp2
NA20905.hp1
intron_variant MODIFIER c.370-1196dupA
c.370-1196dupA
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 4/8 chr12 123628351
chr12:123628351 C
C
CTT
CTT
13 a0001c0001t0001g0028
a0001c0001t0005g0105
a0001c0001t0017g0018
others(10): Show 
a0001c0001t0001g0028
a0001c0001t0005g0105
a0001c0001t0017g0018
a0001c0001t0017g0042
a0001c0001t0023g0165
a0001c0001t0024g0044
a0001c0001t0024g0163
a0001c0001t0032g0074
a0001c0001t0035g0045
a0001c0001t0035g0162
a0001c0001t0044g0104
a0001c0001t0070g0046
a0001c0001t0080g0059
15 HG01175.hp2
HG02109.hp1
HG02257.hp1
others(12): Show 
HG01175.hp2
HG02109.hp1
HG02257.hp1
HG02258.hp1
HG02451.hp1
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG02976.hp1
HG03209.hp1
HG03579.hp2
HG04184.hp1
HG06807.hp2
NA19030.hp1
NA19043.hp1
intron_variant MODIFIER c.370-1197_370-1196d
others(4): Show 
c.370-1197_370-1196dupAA
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 4/8 chr12 123628351
chr12:123628351 CT
CT
C
C
7 a0001c0001t0002g0027
a0001c0001t0004g0134
a0001c0001t0005g0137
others(4): Show 
a0001c0001t0002g0027
a0001c0001t0004g0134
a0001c0001t0005g0137
a0001c0001t0007g0135
a0001c0001t0018g0041
a0001c0001t0029g0133
a0001c0001t0077g0035
8 HG00558.hp1
HG00673.hp2
HG01256.hp2
others(5): Show 
HG00558.hp1
HG00673.hp2
HG01256.hp2
HG02723.hp2
NA18939.hp1
NA18946.hp1
NA19043.hp2
NA19060.hp2
intron_variant MODIFIER c.370-1196delA
c.370-1196delA
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 4/8 chr12 123628351
chr12:123628351 CTTTTTTT
others(8): Show 
CTTTTTTTTTTTTTTT
C
C
10 a0001c0001t0003g0199
a0001c0001t0010g0198
a0001c0001t0013g0196
others(7): Show 
a0001c0001t0003g0199
a0001c0001t0010g0198
a0001c0001t0013g0196
a0001c0001t0016g0197
a0001c0001t0025g0033
a0001c0001t0036g0192
a0001c0001t0036g0194
a0001c0001t0074g0193
a0001c0001t0075g0189
a0001c0001t0076g0195
11 HG01099.hp1
HG01346.hp2
HG01975.hp1
others(8): Show 
HG01099.hp1
HG01346.hp2
HG01975.hp1
HG01978.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02886.hp2
HG03098.hp1
NA18906.hp1
NA19240.hp1
intron_variant MODIFIER c.370-1210_370-1196d
others(17): Show 
c.370-1210_370-1196delAAAAAAAAAAAAAAA
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 4/8 chr12 123628351
chr12:123628364 T
T
C
C
1 a0001c0001t0002g0103
a0001c0001t0002g0103
1 NA18967.hp1
NA18967.hp1
intron_variant MODIFIER c.370-1208A>G
c.370-1208A>G
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 4/8 chr12 123628364
chr12:123628772 C
C
G
G
104 a0001c0001t0001g0015
a0001c0001t0001g0175
a0001c0001t0002g0158
others(101): Show 
a0001c0001t0001g0015
a0001c0001t0001g0175
a0001c0001t0002g0158
a0001c0001t0002g0159
a0001c0001t0002g0160
a0001c0001t0002g0172
a0001c0001t0003g0003
a0001c0001t0003g0014
a0001c0001t0003g0017
a0001c0001t0003g0031
a0001c0001t0003g0034
a0001c0001t0003g0171
a0001c0001t0003g0173
a0001c0001t0003g0177
a0001c0001t0003g0185
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0004g0174
a0001c0001t0010g0020
a0001c0001t0010g0060
a0001c0001t0010g0067
a0001c0001t0010g0070
a0001c0001t0010g0198
a0001c0001t0011g0019
a0001c0001t0011g0032
a0001c0001t0011g0049
a0001c0001t0011g0050
a0001c0001t0013g0023
a0001c0001t0013g0056
a0001c0001t0013g0066
a0001c0001t0013g0196
a0001c0001t0015g0157
a0001c0001t0016g0057
a0001c0001t0016g0058
a0001c0001t0016g0078
a0001c0001t0016g0197
a0001c0001t0017g0018
a0001c0001t0017g0042
a0001c0001t0017g0047
a0001c0001t0018g0039
a0001c0001t0018g0041
a0001c0001t0018g0051
a0001c0001t0018g0183
a0001c0001t0021g0016
a0001c0001t0022g0022
a0001c0001t0022g0073
a0001c0001t0023g0062
a0001c0001t0023g0072
a0001c0001t0023g0165
a0001c0001t0024g0044
a0001c0001t0024g0048
a0001c0001t0024g0163
a0001c0001t0025g0033
a0001c0001t0025g0182
a0001c0001t0028g0190
a0001c0001t0028g0191
a0001c0001t0030g0180
a0001c0001t0030g0181
a0001c0001t0031g0170
a0001c0001t0031g0178
a0001c0001t0032g0074
a0001c0001t0032g0077
a0001c0001t0033g0061
a0001c0001t0034g0079
a0001c0001t0035g0045
a0001c0001t0035g0162
a0001c0001t0036g0192
a0001c0001t0036g0194
a0001c0001t0037g0021
a0001c0001t0038g0065
a0001c0001t0038g0166
a0001c0001t0039g0055
a0001c0001t0040g0052
a0001c0001t0045g0069
a0001c0001t0046g0187
a0001c0001t0047g0186
a0001c0001t0048g0188
a0001c0001t0057g0036
a0001c0001t0058g0176
a0001c0001t0061g0075
a0001c0001t0062g0076
a0001c0001t0063g0164
a0001c0001t0064g0071
a0001c0001t0065g0068
a0001c0001t0067g0054
a0001c0001t0068g0037
a0001c0001t0069g0038
a0001c0001t0070g0046
a0001c0001t0071g0040
a0001c0001t0072g0053
a0001c0001t0073g0043
a0001c0001t0074g0193
a0001c0001t0075g0189
a0001c0001t0076g0195
a0001c0001t0077g0035
a0001c0001t0078g0063
a0001c0001t0079g0064
a0001c0001t0080g0059
a0001c0001t0081g0201
a0001c0002t0051g0154
a0001c0002t0052g0184
a0001c0002t0053g0155
a0001c0002t0054g0156
a0002c0004t0002g0153
133 HG00099.hp2
HG00140.hp1
HG00280.hp2
others(130): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00621.hp2
HG00673.hp1
HG00733.hp2
HG00738.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp2
HG01257.hp1
HG01346.hp2
HG01358.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01884.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp2
HG02015.hp2
HG02027.hp2
HG02055.hp2
HG02109.hp2
HG02145.hp2
HG02148.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp2
HG03579.hp2
HG03688.hp2
HG03831.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18960.hp2
NA18977.hp1
NA18979.hp1
NA18999.hp1
NA19005.hp2
NA19012.hp1
NA19030.hp2
NA19043.hp2
NA19062.hp1
NA19068.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA20805.hp2
NA20905.hp1
intron_variant MODIFIER c.369+1397G>C
c.369+1397G>C
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 4/8 chr12 123628772
chr12:123628779 G
G
C
C
1 a0001c0001t0006g0136
a0001c0001t0006g0136
1 HG02165.hp1
HG02165.hp1
intron_variant MODIFIER c.369+1390C>G
c.369+1390C>G
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 4/8 chr12 123628779
chr12:123628913 A
A
G
G
30 a0001c0001t0010g0020
a0001c0001t0010g0060
a0001c0001t0010g0067
others(27): Show 
a0001c0001t0010g0020
a0001c0001t0010g0060
a0001c0001t0010g0067
a0001c0001t0010g0070
a0001c0001t0013g0023
a0001c0001t0013g0056
a0001c0001t0013g0066
a0001c0001t0016g0057
a0001c0001t0016g0058
a0001c0001t0016g0078
a0001c0001t0022g0022
a0001c0001t0022g0073
a0001c0001t0023g0062
a0001c0001t0023g0072
a0001c0001t0023g0165
a0001c0001t0032g0074
a0001c0001t0032g0077
a0001c0001t0033g0061
a0001c0001t0037g0021
a0001c0001t0038g0065
a0001c0001t0038g0166
a0001c0001t0039g0055
a0001c0001t0045g0069
a0001c0001t0061g0075
a0001c0001t0062g0076
a0001c0001t0064g0071
a0001c0001t0065g0068
a0001c0001t0078g0063
a0001c0001t0079g0064
a0001c0001t0080g0059
34 HG00280.hp2
HG00408.hp1
HG00621.hp2
others(31): Show 
HG00280.hp2
HG00408.hp1
HG00621.hp2
HG00673.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01175.hp2
HG01891.hp2
HG02015.hp2
HG02109.hp2
HG02523.hp1
HG02622.hp1
HG02622.hp2
HG02698.hp1
HG02717.hp2
HG02735.hp1
HG02896.hp2
HG03041.hp1
HG03195.hp2
HG03491.hp2
HG03492.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp1
NA18906.hp2
NA18979.hp1
NA18999.hp1
NA19012.hp1
NA19062.hp1
NA19068.hp1
NA20129.hp1
NA20300.hp2
NA20905.hp1
intron_variant MODIFIER c.369+1256T>C
c.369+1256T>C
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 4/8 chr12 123628913
chr12:123628967 C
C
T
T
5 a0001c0001t0001g0102
a0001c0001t0002g0027
a0001c0001t0002g0103
others(2): Show 
a0001c0001t0001g0102
a0001c0001t0002g0027
a0001c0001t0002g0103
a0001c0001t0005g0101
a0001c0001t0007g0100
6 HG00558.hp1
NA18939.hp1
NA18955.hp2
others(3): Show 
HG00558.hp1
NA18939.hp1
NA18955.hp2
NA18967.hp1
NA18991.hp1
NA19084.hp1
intron_variant MODIFIER c.369+1202G>A
c.369+1202G>A
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 4/8 chr12 123628967
chr12:123629002 CGAGAGG
CGAGAGG
C
C
17 a0001c0001t0003g0199
a0001c0001t0010g0198
a0001c0001t0013g0196
others(14): Show 
a0001c0001t0003g0199
a0001c0001t0010g0198
a0001c0001t0013g0196
a0001c0001t0016g0197
a0001c0001t0025g0033
a0001c0001t0028g0190
a0001c0001t0028g0191
a0001c0001t0036g0192
a0001c0001t0036g0194
a0001c0001t0046g0187
a0001c0001t0047g0186
a0001c0001t0048g0188
a0001c0001t0074g0193
a0001c0001t0075g0189
a0001c0001t0076g0195
a0001c0001t0077g0035
a0001c0001t0081g0201
18 HG01099.hp1
HG01346.hp2
HG01975.hp1
others(15): Show 
HG01099.hp1
HG01346.hp2
HG01975.hp1
HG01978.hp1
HG02145.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02886.hp2
HG02895.hp2
HG02970.hp1
HG02976.hp2
HG03098.hp1
HG03453.hp2
HG03486.hp1
NA18906.hp1
NA19043.hp2
NA19240.hp1
intron_variant MODIFIER c.369+1161_369+1166d
others(8): Show 
c.369+1161_369+1166delCCTCTC
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 4/8 chr12 123629002
chr12:123629003 G
G
A
A
4 a0001c0002t0051g0154
a0001c0002t0052g0184
a0001c0002t0053g0155
others(1): Show 
a0001c0002t0051g0154
a0001c0002t0052g0184
a0001c0002t0053g0155
a0001c0002t0054g0156
4 HG02572.hp2
HG02809.hp1
HG02818.hp2
others(1): Show 
HG02572.hp2
HG02809.hp1
HG02818.hp2
NA19240.hp2
intron_variant MODIFIER c.369+1166C>T
c.369+1166C>T
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 4/8 chr12 123629003
chr12:123629018 C
C
T
T
7 a0001c0001t0014g0011
a0001c0001t0014g0096
a0001c0001t0026g0025
others(4): Show 
a0001c0001t0014g0011
a0001c0001t0014g0096
a0001c0001t0026g0025
a0001c0001t0027g0026
a0001c0001t0034g0099
a0001c0001t0041g0097
a0001c0001t0042g0098
11 HG01109.hp2
HG02055.hp1
HG02258.hp2
others(8): Show 
HG01109.hp2
HG02055.hp1
HG02258.hp2
HG02280.hp1
HG02886.hp1
HG02965.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03579.hp1
intron_variant MODIFIER c.369+1151G>A
c.369+1151G>A
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 4/8 chr12 123629018
chr12:123629025 T
T
C
C
1 a0001c0001t0001g0138
a0001c0001t0001g0138
1 HG03927.hp2
HG03927.hp2
intron_variant MODIFIER c.369+1144A>G
c.369+1144A>G
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 4/8 chr12 123629025
chr12:123629195 G
G
C
C
1 a0001c0001t0005g0137
a0001c0001t0005g0137
1 NA18946.hp1
NA18946.hp1
intron_variant MODIFIER c.369+974C>G
c.369+974C>G
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 4/8 chr12 123629195
chr12:123629282 C
C
T
T
17 a0001c0001t0003g0199
a0001c0001t0010g0198
a0001c0001t0013g0196
others(14): Show 
a0001c0001t0003g0199
a0001c0001t0010g0198
a0001c0001t0013g0196
a0001c0001t0016g0197
a0001c0001t0025g0033
a0001c0001t0028g0190
a0001c0001t0028g0191
a0001c0001t0036g0192
a0001c0001t0036g0194
a0001c0001t0046g0187
a0001c0001t0047g0186
a0001c0001t0048g0188
a0001c0001t0074g0193
a0001c0001t0075g0189
a0001c0001t0076g0195
a0001c0001t0077g0035
a0001c0001t0081g0201
18 HG01099.hp1
HG01346.hp2
HG01975.hp1
others(15): Show 
HG01099.hp1
HG01346.hp2
HG01975.hp1
HG01978.hp1
HG02145.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02886.hp2
HG02895.hp2
HG02970.hp1
HG02976.hp2
HG03098.hp1
HG03453.hp2
HG03486.hp1
NA18906.hp1
NA19043.hp2
NA19240.hp1
intron_variant MODIFIER c.369+887G>A
c.369+887G>A
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 4/8 chr12 123629282
chr12:123629418 C
C
G
G
30 a0001c0001t0010g0020
a0001c0001t0010g0060
a0001c0001t0010g0067
others(27): Show 
a0001c0001t0010g0020
a0001c0001t0010g0060
a0001c0001t0010g0067
a0001c0001t0010g0070
a0001c0001t0013g0023
a0001c0001t0013g0056
a0001c0001t0013g0066
a0001c0001t0016g0057
a0001c0001t0016g0058
a0001c0001t0016g0078
a0001c0001t0022g0022
a0001c0001t0022g0073
a0001c0001t0023g0062
a0001c0001t0023g0072
a0001c0001t0023g0165
a0001c0001t0032g0074
a0001c0001t0032g0077
a0001c0001t0033g0061
a0001c0001t0037g0021
a0001c0001t0038g0065
a0001c0001t0038g0166
a0001c0001t0039g0055
a0001c0001t0045g0069
a0001c0001t0061g0075
a0001c0001t0062g0076
a0001c0001t0064g0071
a0001c0001t0065g0068
a0001c0001t0078g0063
a0001c0001t0079g0064
a0001c0001t0080g0059
34 HG00280.hp2
HG00408.hp1
HG00621.hp2
others(31): Show 
HG00280.hp2
HG00408.hp1
HG00621.hp2
HG00673.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01175.hp2
HG01891.hp2
HG02015.hp2
HG02109.hp2
HG02523.hp1
HG02622.hp1
HG02622.hp2
HG02698.hp1
HG02717.hp2
HG02735.hp1
HG02896.hp2
HG03041.hp1
HG03195.hp2
HG03491.hp2
HG03492.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp1
NA18906.hp2
NA18979.hp1
NA18999.hp1
NA19012.hp1
NA19062.hp1
NA19068.hp1
NA20129.hp1
NA20300.hp2
NA20905.hp1
intron_variant MODIFIER c.369+751G>C
c.369+751G>C
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 4/8 chr12 123629418
chr12:123629518 G
G
A
A
1 a0001c0001t0077g0035
a0001c0001t0077g0035
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.369+651C>T
c.369+651C>T
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 4/8 chr12 123629518
chr12:123629567 G
G
A
A
1 a0001c0001t0009g0145
a0001c0001t0009g0145
1 HG01361.hp1
HG01361.hp1
intron_variant MODIFIER c.369+602C>T
c.369+602C>T
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 4/8 chr12 123629567
chr12:123629576 A
A
G
G
17 a0001c0001t0003g0199
a0001c0001t0010g0198
a0001c0001t0013g0196
others(14): Show 
a0001c0001t0003g0199
a0001c0001t0010g0198
a0001c0001t0013g0196
a0001c0001t0016g0197
a0001c0001t0025g0033
a0001c0001t0028g0190
a0001c0001t0028g0191
a0001c0001t0036g0192
a0001c0001t0036g0194
a0001c0001t0046g0187
a0001c0001t0047g0186
a0001c0001t0048g0188
a0001c0001t0074g0193
a0001c0001t0075g0189
a0001c0001t0076g0195
a0001c0001t0077g0035
a0001c0001t0081g0201
18 HG01099.hp1
HG01346.hp2
HG01975.hp1
others(15): Show 
HG01099.hp1
HG01346.hp2
HG01975.hp1
HG01978.hp1
HG02145.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02886.hp2
HG02895.hp2
HG02970.hp1
HG02976.hp2
HG03098.hp1
HG03453.hp2
HG03486.hp1
NA18906.hp1
NA19043.hp2
NA19240.hp1
intron_variant MODIFIER c.369+593T>C
c.369+593T>C
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 4/8 chr12 123629576
chr12:123629657 C
C
G
G
17 a0001c0001t0003g0199
a0001c0001t0010g0198
a0001c0001t0013g0196
others(14): Show 
a0001c0001t0003g0199
a0001c0001t0010g0198
a0001c0001t0013g0196
a0001c0001t0016g0197
a0001c0001t0025g0033
a0001c0001t0028g0190
a0001c0001t0028g0191
a0001c0001t0036g0192
a0001c0001t0036g0194
a0001c0001t0046g0187
a0001c0001t0047g0186
a0001c0001t0048g0188
a0001c0001t0074g0193
a0001c0001t0075g0189
a0001c0001t0076g0195
a0001c0001t0077g0035
a0001c0001t0081g0201
18 HG01099.hp1
HG01346.hp2
HG01975.hp1
others(15): Show 
HG01099.hp1
HG01346.hp2
HG01975.hp1
HG01978.hp1
HG02145.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02886.hp2
HG02895.hp2
HG02970.hp1
HG02976.hp2
HG03098.hp1
HG03453.hp2
HG03486.hp1
NA18906.hp1
NA19043.hp2
NA19240.hp1
intron_variant MODIFIER c.369+512G>C
c.369+512G>C
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 4/8 chr12 123629657
chr12:123629793 A
A
AAAAT
AAAAT
8 a0001c0001t0004g0092
a0001c0001t0004g0095
a0001c0001t0005g0151
others(5): Show 
a0001c0001t0004g0092
a0001c0001t0004g0095
a0001c0001t0005g0151
a0001c0001t0009g0091
a0001c0001t0009g0150
a0001c0001t0029g0094
a0001c0001t0049g0093
a0001c0001t0050g0090
8 HG01070.hp2
HG01981.hp1
HG02056.hp1
others(5): Show 
HG01070.hp2
HG01981.hp1
HG02056.hp1
NA18953.hp1
NA18972.hp2
NA18975.hp1
NA18975.hp2
NA19057.hp2
intron_variant MODIFIER c.369+372_369+375dup
others(4): Show 
c.369+372_369+375dupATTT
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 4/8 chr12 123629793
chr12:123629809 TAAATA
TAAATA
T
T
4 a0001c0002t0051g0154
a0001c0002t0052g0184
a0001c0002t0053g0155
others(1): Show 
a0001c0002t0051g0154
a0001c0002t0052g0184
a0001c0002t0053g0155
a0001c0002t0054g0156
4 HG02572.hp2
HG02809.hp1
HG02818.hp2
others(1): Show 
HG02572.hp2
HG02809.hp1
HG02818.hp2
NA19240.hp2
intron_variant MODIFIER c.369+355_369+359del
others(5): Show 
c.369+355_369+359delTATTT
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 4/8 chr12 123629809
chr12:123629859 C
C
A
A
4 a0001c0001t0046g0187
a0001c0001t0047g0186
a0001c0001t0048g0188
others(1): Show 
a0001c0001t0046g0187
a0001c0001t0047g0186
a0001c0001t0048g0188
a0001c0001t0081g0201
4 HG02970.hp1
HG02976.hp2
HG03453.hp2
others(1): Show 
HG02970.hp1
HG02976.hp2
HG03453.hp2
HG03486.hp1
intron_variant MODIFIER c.369+310G>T
c.369+310G>T
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 4/8 chr12 123629859
chr12:123630005 G
G
A
A
25 a0001c0001t0001g0015
a0001c0001t0001g0175
a0001c0001t0002g0158
others(22): Show 
a0001c0001t0001g0015
a0001c0001t0001g0175
a0001c0001t0002g0158
a0001c0001t0002g0159
a0001c0001t0002g0160
a0001c0001t0002g0172
a0001c0001t0003g0003
a0001c0001t0003g0014
a0001c0001t0003g0017
a0001c0001t0003g0031
a0001c0001t0003g0034
a0001c0001t0003g0171
a0001c0001t0003g0173
a0001c0001t0003g0177
a0001c0001t0003g0179
a0001c0001t0003g0185
a0001c0001t0003g0200
a0001c0001t0004g0174
a0001c0001t0015g0157
a0001c0001t0021g0016
a0001c0001t0031g0170
a0001c0001t0031g0178
a0001c0001t0057g0036
a0001c0001t0058g0176
a0002c0004t0002g0153
46 HG00099.hp2
HG00140.hp1
HG00323.hp1
others(43): Show 
HG00099.hp2
HG00140.hp1
HG00323.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp2
HG01074.hp1
HG01081.hp2
HG01168.hp1
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01358.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01934.hp2
HG01981.hp2
HG02027.hp2
HG02055.hp2
HG02148.hp1
HG02257.hp2
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02698.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG03017.hp2
HG03139.hp2
HG03225.hp1
HG03490.hp1
HG03492.hp1
HG03688.hp2
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04204.hp2
NA18522.hp1
NA18612.hp2
NA18960.hp2
NA18977.hp1
NA19005.hp2
NA19086.hp2
NA20805.hp2
intron_variant MODIFIER c.369+164C>T
c.369+164C>T
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 4/8 chr12 123630005
chr12:123630119 G
G
A
A
4 a0001c0001t0032g0074
a0001c0001t0032g0077
a0001c0001t0061g0075
others(1): Show 
a0001c0001t0032g0074
a0001c0001t0032g0077
a0001c0001t0061g0075
a0001c0001t0062g0076
4 HG01891.hp2
HG02896.hp2
NA18906.hp2
others(1): Show 
HG01891.hp2
HG02896.hp2
NA18906.hp2
NA20300.hp2
intron_variant MODIFIER c.369+50C>T
c.369+50C>T
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 4/8 chr12 123630119
chr12:123630124 C
C
T
T
4 a0001c0002t0051g0154
a0001c0002t0052g0184
a0001c0002t0053g0155
others(1): Show 
a0001c0002t0051g0154
a0001c0002t0052g0184
a0001c0002t0053g0155
a0001c0002t0054g0156
4 HG02572.hp2
HG02809.hp1
HG02818.hp2
others(1): Show 
HG02572.hp2
HG02809.hp1
HG02818.hp2
NA19240.hp2
intron_variant MODIFIER c.369+45G>A
c.369+45G>A
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 4/8 chr12 123630124
chr12:123630381 G
G
A
A
1 a0001c0001t0001g0138
a0001c0001t0001g0138
1 HG03927.hp2
HG03927.hp2
intron_variant MODIFIER c.252+16C>T
c.252+16C>T
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 3/8 chr12 123630381
chr12:123630589 G
G
C
C
6 a0001c0001t0004g0143
a0001c0001t0005g0142
a0001c0001t0006g0139
others(3): Show 
a0001c0001t0004g0143
a0001c0001t0005g0142
a0001c0001t0006g0139
a0001c0001t0008g0140
a0001c0001t0009g0141
a0001c0001t0015g0144
6 HG00558.hp2
HG03669.hp2
NA18962.hp1
others(3): Show 
HG00558.hp2
HG03669.hp2
NA18962.hp1
NA19000.hp1
NA19002.hp2
NA19088.hp1
intron_variant MODIFIER c.116-56C>G
c.116-56C>G
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 2/8 chr12 123630589
chr12:123630653 A
A
G
G
76 a0001c0001t0003g0199
a0001c0001t0010g0020
a0001c0001t0010g0060
others(73): Show 
a0001c0001t0003g0199
a0001c0001t0010g0020
a0001c0001t0010g0060
a0001c0001t0010g0067
a0001c0001t0010g0070
a0001c0001t0010g0198
a0001c0001t0011g0019
a0001c0001t0011g0032
a0001c0001t0011g0049
a0001c0001t0011g0050
a0001c0001t0013g0023
a0001c0001t0013g0056
a0001c0001t0013g0066
a0001c0001t0013g0196
a0001c0001t0016g0057
a0001c0001t0016g0058
a0001c0001t0016g0078
a0001c0001t0016g0197
a0001c0001t0017g0018
a0001c0001t0017g0042
a0001c0001t0017g0047
a0001c0001t0018g0039
a0001c0001t0018g0041
a0001c0001t0018g0051
a0001c0001t0018g0183
a0001c0001t0022g0022
a0001c0001t0022g0073
a0001c0001t0023g0062
a0001c0001t0023g0072
a0001c0001t0023g0165
a0001c0001t0024g0044
a0001c0001t0024g0048
a0001c0001t0024g0163
a0001c0001t0025g0033
a0001c0001t0025g0182
a0001c0001t0028g0190
a0001c0001t0028g0191
a0001c0001t0030g0180
a0001c0001t0030g0181
a0001c0001t0032g0074
a0001c0001t0032g0077
a0001c0001t0033g0061
a0001c0001t0034g0079
a0001c0001t0035g0045
a0001c0001t0035g0162
a0001c0001t0036g0192
a0001c0001t0036g0194
a0001c0001t0037g0021
a0001c0001t0038g0065
a0001c0001t0038g0166
a0001c0001t0039g0055
a0001c0001t0040g0052
a0001c0001t0045g0069
a0001c0001t0046g0187
a0001c0001t0047g0186
a0001c0001t0048g0188
a0001c0001t0061g0075
a0001c0001t0062g0076
a0001c0001t0063g0164
a0001c0001t0064g0071
a0001c0001t0065g0068
a0001c0001t0067g0054
a0001c0001t0068g0037
a0001c0001t0069g0038
a0001c0001t0070g0046
a0001c0001t0071g0040
a0001c0001t0072g0053
a0001c0001t0073g0043
a0001c0001t0074g0193
a0001c0001t0075g0189
a0001c0001t0076g0195
a0001c0001t0077g0035
a0001c0001t0078g0063
a0001c0001t0079g0064
a0001c0001t0080g0059
a0001c0001t0081g0201
84 HG00280.hp2
HG00408.hp1
HG00621.hp2
others(81): Show 
HG00280.hp2
HG00408.hp1
HG00621.hp2
HG00673.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01346.hp2
HG01884.hp1
HG01891.hp2
HG01975.hp1
HG01978.hp1
HG02015.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03491.hp2
HG03492.hp2
HG03540.hp2
HG03579.hp2
HG03942.hp1
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18979.hp1
NA18999.hp1
NA19012.hp1
NA19030.hp2
NA19043.hp2
NA19062.hp1
NA19068.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp2
NA20905.hp1
intron_variant MODIFIER c.116-120T>C
c.116-120T>C
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 2/8 chr12 123630653
chr12:123630733 C
C
T
T
1 a0001c0001t0024g0044
a0001c0001t0024g0044
1 HG02976.hp1
HG02976.hp1
intron_variant MODIFIER c.116-200G>A
c.116-200G>A
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 2/8 chr12 123630733
chr12:123630944 T
T
C
C
5 a0001c0001t0063g0164
a0001c0001t0067g0054
a0001c0001t0068g0037
others(2): Show 
a0001c0001t0063g0164
a0001c0001t0067g0054
a0001c0001t0068g0037
a0001c0001t0072g0053
a0001c0001t0073g0043
5 HG01243.hp2
HG02818.hp1
HG03540.hp2
others(2): Show 
HG01243.hp2
HG02818.hp1
HG03540.hp2
NA18522.hp2
NA19030.hp2
intron_variant MODIFIER c.116-411A>G
c.116-411A>G
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 2/8 chr12 123630944
chr12:123631148 T
T
C
C
6 a0001c0001t0003g0199
a0001c0001t0010g0198
a0001c0001t0013g0196
others(3): Show 
a0001c0001t0003g0199
a0001c0001t0010g0198
a0001c0001t0013g0196
a0001c0001t0016g0197
a0001c0001t0028g0190
a0001c0001t0028g0191
6 HG01099.hp1
HG02145.hp2
HG02647.hp2
others(3): Show 
HG01099.hp1
HG02145.hp2
HG02647.hp2
HG02895.hp2
NA18906.hp1
NA19240.hp1
intron_variant MODIFIER c.116-615A>G
c.116-615A>G
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 2/8 chr12 123631148
chr12:123631190 C
C
A
A
1 a0001c0001t0009g0145
a0001c0001t0009g0145
1 HG01361.hp1
HG01361.hp1
intron_variant MODIFIER c.116-657G>T
c.116-657G>T
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 2/8 chr12 123631190
chr12:123631264 G
G
A
A
30 a0001c0001t0010g0020
a0001c0001t0010g0060
a0001c0001t0010g0067
others(27): Show 
a0001c0001t0010g0020
a0001c0001t0010g0060
a0001c0001t0010g0067
a0001c0001t0010g0070
a0001c0001t0013g0023
a0001c0001t0013g0056
a0001c0001t0013g0066
a0001c0001t0016g0057
a0001c0001t0016g0058
a0001c0001t0016g0078
a0001c0001t0022g0022
a0001c0001t0022g0073
a0001c0001t0023g0062
a0001c0001t0023g0072
a0001c0001t0023g0165
a0001c0001t0032g0074
a0001c0001t0032g0077
a0001c0001t0033g0061
a0001c0001t0037g0021
a0001c0001t0038g0065
a0001c0001t0038g0166
a0001c0001t0039g0055
a0001c0001t0045g0069
a0001c0001t0061g0075
a0001c0001t0062g0076
a0001c0001t0064g0071
a0001c0001t0065g0068
a0001c0001t0078g0063
a0001c0001t0079g0064
a0001c0001t0080g0059
34 HG00280.hp2
HG00408.hp1
HG00621.hp2
others(31): Show 
HG00280.hp2
HG00408.hp1
HG00621.hp2
HG00673.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01175.hp2
HG01891.hp2
HG02015.hp2
HG02109.hp2
HG02523.hp1
HG02622.hp1
HG02622.hp2
HG02698.hp1
HG02717.hp2
HG02735.hp1
HG02896.hp2
HG03041.hp1
HG03195.hp2
HG03491.hp2
HG03492.hp2
HG04184.hp1
HG04199.hp2
HG06807.hp1
NA18906.hp2
NA18979.hp1
NA18999.hp1
NA19012.hp1
NA19062.hp1
NA19068.hp1
NA20129.hp1
NA20300.hp2
NA20905.hp1
intron_variant MODIFIER c.116-731C>T
c.116-731C>T
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 2/8 chr12 123631264
chr12:123631291 T
T
C
C
4 a0001c0001t0002g0030
a0001c0001t0004g0146
a0001c0001t0004g0147
others(1): Show 
a0001c0001t0002g0030
a0001c0001t0004g0146
a0001c0001t0004g0147
a0001c0001t0004g0152
5 HG01070.hp1
HG01071.hp2
HG01433.hp2
others(2): Show 
HG01070.hp1
HG01071.hp2
HG01433.hp2
HG01928.hp1
HG01978.hp2
intron_variant MODIFIER c.116-758A>G
c.116-758A>G
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 2/8 chr12 123631291
chr12:123631291 T
T
G
G
6 a0001c0001t0003g0199
a0001c0001t0010g0198
a0001c0001t0013g0196
others(3): Show 
a0001c0001t0003g0199
a0001c0001t0010g0198
a0001c0001t0013g0196
a0001c0001t0016g0197
a0001c0001t0028g0190
a0001c0001t0028g0191
6 HG01099.hp1
HG02145.hp2
HG02647.hp2
others(3): Show 
HG01099.hp1
HG02145.hp2
HG02647.hp2
HG02895.hp2
NA18906.hp1
NA19240.hp1
intron_variant MODIFIER c.116-758A>C
c.116-758A>C
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 2/8 chr12 123631291
chr12:123631422 C
C
A
A
1 a0001c0001t0001g0148
a0001c0001t0001g0148
1 NA18950.hp1
NA18950.hp1
intron_variant MODIFIER c.116-889G>T
c.116-889G>T
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 2/8 chr12 123631422
chr12:123631448 G
G
A
A
4 a0001c0001t0046g0187
a0001c0001t0047g0186
a0001c0001t0048g0188
others(1): Show 
a0001c0001t0046g0187
a0001c0001t0047g0186
a0001c0001t0048g0188
a0001c0001t0081g0201
4 HG02970.hp1
HG02976.hp2
HG03453.hp2
others(1): Show 
HG02970.hp1
HG02976.hp2
HG03453.hp2
HG03486.hp1
intron_variant MODIFIER c.115+897C>T
c.115+897C>T
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 2/8 chr12 123631448
chr12:123631487 A
A
G
G
4 a0001c0002t0051g0154
a0001c0002t0052g0184
a0001c0002t0053g0155
others(1): Show 
a0001c0002t0051g0154
a0001c0002t0052g0184
a0001c0002t0053g0155
a0001c0002t0054g0156
4 HG02572.hp2
HG02809.hp1
HG02818.hp2
others(1): Show 
HG02572.hp2
HG02809.hp1
HG02818.hp2
NA19240.hp2
intron_variant MODIFIER c.115+858T>C
c.115+858T>C
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 2/8 chr12 123631487
chr12:123631490 T
T
C
C
4 a0001c0002t0051g0154
a0001c0002t0052g0184
a0001c0002t0053g0155
others(1): Show 
a0001c0002t0051g0154
a0001c0002t0052g0184
a0001c0002t0053g0155
a0001c0002t0054g0156
4 HG02572.hp2
HG02809.hp1
HG02818.hp2
others(1): Show 
HG02572.hp2
HG02809.hp1
HG02818.hp2
NA19240.hp2
intron_variant MODIFIER c.115+855A>G
c.115+855A>G
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 2/8 chr12 123631490
chr12:123631533 G
G
A
A
1 a0001c0001t0005g0149
a0001c0001t0005g0149
1 NA19079.hp2
NA19079.hp2
intron_variant MODIFIER c.115+812C>T
c.115+812C>T
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 2/8 chr12 123631533
chr12:123631577 C
C
T
T
1 a0001c0001t0039g0055
a0001c0001t0039g0055
1 HG06807.hp1
HG06807.hp1
intron_variant MODIFIER c.115+768G>A
c.115+768G>A
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 2/8 chr12 123631577
chr12:123631578 A
A
G
G
76 a0001c0001t0003g0199
a0001c0001t0010g0020
a0001c0001t0010g0060
others(73): Show 
a0001c0001t0003g0199
a0001c0001t0010g0020
a0001c0001t0010g0060
a0001c0001t0010g0067
a0001c0001t0010g0070
a0001c0001t0010g0198
a0001c0001t0011g0019
a0001c0001t0011g0032
a0001c0001t0011g0049
a0001c0001t0011g0050
a0001c0001t0013g0023
a0001c0001t0013g0056
a0001c0001t0013g0066
a0001c0001t0013g0196
a0001c0001t0016g0057
a0001c0001t0016g0058
a0001c0001t0016g0078
a0001c0001t0016g0197
a0001c0001t0017g0018
a0001c0001t0017g0042
a0001c0001t0017g0047
a0001c0001t0018g0039
a0001c0001t0018g0041
a0001c0001t0018g0051
a0001c0001t0018g0183
a0001c0001t0022g0022
a0001c0001t0022g0073
a0001c0001t0023g0062
a0001c0001t0023g0072
a0001c0001t0023g0165
a0001c0001t0024g0044
a0001c0001t0024g0048
a0001c0001t0024g0163
a0001c0001t0025g0033
a0001c0001t0025g0182
a0001c0001t0028g0190
a0001c0001t0028g0191
a0001c0001t0030g0180
a0001c0001t0030g0181
a0001c0001t0032g0074
a0001c0001t0032g0077
a0001c0001t0033g0061
a0001c0001t0034g0079
a0001c0001t0035g0045
a0001c0001t0035g0162
a0001c0001t0036g0192
a0001c0001t0036g0194
a0001c0001t0037g0021
a0001c0001t0038g0065
a0001c0001t0038g0166
a0001c0001t0039g0055
a0001c0001t0040g0052
a0001c0001t0045g0069
a0001c0001t0046g0187
a0001c0001t0047g0186
a0001c0001t0048g0188
a0001c0001t0061g0075
a0001c0001t0062g0076
a0001c0001t0063g0164
a0001c0001t0064g0071
a0001c0001t0065g0068
a0001c0001t0067g0054
a0001c0001t0068g0037
a0001c0001t0069g0038
a0001c0001t0070g0046
a0001c0001t0071g0040
a0001c0001t0072g0053
a0001c0001t0073g0043
a0001c0001t0074g0193
a0001c0001t0075g0189
a0001c0001t0076g0195
a0001c0001t0077g0035
a0001c0001t0078g0063
a0001c0001t0079g0064
a0001c0001t0080g0059
a0001c0001t0081g0201
84 HG00280.hp2
HG00408.hp1
HG00621.hp2
others(81): Show 
HG00280.hp2
HG00408.hp1
HG00621.hp2
HG00673.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01346.hp2
HG01884.hp1
HG01891.hp2
HG01975.hp1
HG01978.hp1
HG02015.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03491.hp2
HG03492.hp2
HG03540.hp2
HG03579.hp2
HG03942.hp1
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18979.hp1
NA18999.hp1
NA19012.hp1
NA19030.hp2
NA19043.hp2
NA19062.hp1
NA19068.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp2
NA20905.hp1
intron_variant MODIFIER c.115+767T>C
c.115+767T>C
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 2/8 chr12 123631578
chr12:123631583 C
C
T
T
1 a0001c0001t0039g0055
a0001c0001t0039g0055
1 HG06807.hp1
HG06807.hp1
intron_variant MODIFIER c.115+762G>A
c.115+762G>A
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 2/8 chr12 123631583
chr12:123631622 C
C
G
G
29 a0001c0001t0011g0019
a0001c0001t0011g0032
a0001c0001t0011g0049
others(26): Show 
a0001c0001t0011g0019
a0001c0001t0011g0032
a0001c0001t0011g0049
a0001c0001t0011g0050
a0001c0001t0017g0018
a0001c0001t0017g0042
a0001c0001t0017g0047
a0001c0001t0018g0039
a0001c0001t0018g0041
a0001c0001t0018g0051
a0001c0001t0018g0183
a0001c0001t0024g0044
a0001c0001t0024g0048
a0001c0001t0024g0163
a0001c0001t0025g0182
a0001c0001t0030g0180
a0001c0001t0030g0181
a0001c0001t0034g0079
a0001c0001t0035g0045
a0001c0001t0035g0162
a0001c0001t0040g0052
a0001c0001t0063g0164
a0001c0001t0067g0054
a0001c0001t0068g0037
a0001c0001t0069g0038
a0001c0001t0070g0046
a0001c0001t0071g0040
a0001c0001t0072g0053
a0001c0001t0073g0043
32 HG01109.hp1
HG01243.hp1
HG01243.hp2
others(29): Show 
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01884.hp1
HG02257.hp1
HG02258.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02717.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02976.hp1
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03471.hp1
HG03540.hp2
HG03579.hp2
HG03942.hp1
HG04199.hp1
NA18522.hp2
NA19030.hp2
intron_variant MODIFIER c.115+723G>C
c.115+723G>C
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 2/8 chr12 123631622
chr12:123631636 G
G
A
A
1 a0001c0001t0046g0187
a0001c0001t0046g0187
1 HG03486.hp1
HG03486.hp1
intron_variant MODIFIER c.115+709C>T
c.115+709C>T
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 2/8 chr12 123631636
chr12:123631677 G
G
A
A
1 a0001c0001t0006g0169
a0001c0001t0006g0169
1 NA19062.hp2
NA19062.hp2
intron_variant MODIFIER c.115+668C>T
c.115+668C>T
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 2/8 chr12 123631677
chr12:123631738 C
C
T
T
1 a0001c0001t0033g0089
a0001c0001t0033g0089
1 HG01891.hp1
HG01891.hp1
intron_variant MODIFIER c.115+607G>A
c.115+607G>A
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 2/8 chr12 123631738
chr12:123631739 G
G
A
A
2 a0001c0001t0005g0151
a0001c0001t0009g0150
a0001c0001t0005g0151
a0001c0001t0009g0150
2 NA18972.hp2
NA19057.hp2
NA18972.hp2
NA19057.hp2
intron_variant MODIFIER c.115+606C>T
c.115+606C>T
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 2/8 chr12 123631739
chr12:123631781 C
C
T
T
1 a0001c0001t0048g0188
a0001c0001t0048g0188
1 HG02976.hp2
HG02976.hp2
intron_variant MODIFIER c.115+564G>A
c.115+564G>A
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 2/8 chr12 123631781
chr12:123631801 C
C
T
T
8 a0001c0001t0001g0085
a0001c0001t0004g0024
a0001c0001t0005g0086
others(5): Show 
a0001c0001t0001g0085
a0001c0001t0004g0024
a0001c0001t0005g0086
a0001c0001t0006g0088
a0001c0001t0007g0082
a0001c0001t0007g0087
a0001c0001t0012g0083
a0001c0001t0012g0084
9 HG00544.hp2
HG00597.hp1
HG02165.hp2
others(6): Show 
HG00544.hp2
HG00597.hp1
HG02165.hp2
NA18948.hp2
NA18974.hp2
NA18988.hp1
NA18998.hp1
NA18999.hp2
NA19060.hp1
intron_variant MODIFIER c.115+544G>A
c.115+544G>A
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 2/8 chr12 123631801
chr12:123631806 CA
CA
C
C
95 a0001c0001t0001g0015
a0001c0001t0001g0175
a0001c0001t0002g0158
others(92): Show 
a0001c0001t0001g0015
a0001c0001t0001g0175
a0001c0001t0002g0158
a0001c0001t0002g0159
a0001c0001t0002g0172
a0001c0001t0003g0003
a0001c0001t0003g0014
a0001c0001t0003g0017
a0001c0001t0003g0031
a0001c0001t0003g0034
a0001c0001t0003g0171
a0001c0001t0003g0173
a0001c0001t0003g0177
a0001c0001t0003g0179
a0001c0001t0003g0185
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0004g0174
a0001c0001t0010g0020
a0001c0001t0010g0060
a0001c0001t0010g0067
a0001c0001t0010g0070
a0001c0001t0010g0198
a0001c0001t0011g0019
a0001c0001t0011g0032
a0001c0001t0011g0049
a0001c0001t0011g0050
a0001c0001t0013g0023
a0001c0001t0013g0056
a0001c0001t0013g0066
a0001c0001t0013g0196
a0001c0001t0015g0157
a0001c0001t0016g0057
a0001c0001t0016g0058
a0001c0001t0016g0078
a0001c0001t0016g0197
a0001c0001t0017g0018
a0001c0001t0017g0042
a0001c0001t0017g0047
a0001c0001t0018g0039
a0001c0001t0018g0041
a0001c0001t0018g0051
a0001c0001t0018g0183
a0001c0001t0021g0016
a0001c0001t0022g0022
a0001c0001t0023g0062
a0001c0001t0023g0072
a0001c0001t0023g0165
a0001c0001t0024g0044
a0001c0001t0024g0048
a0001c0001t0024g0163
a0001c0001t0025g0033
a0001c0001t0025g0182
a0001c0001t0030g0180
a0001c0001t0030g0181
a0001c0001t0031g0170
a0001c0001t0031g0178
a0001c0001t0032g0074
a0001c0001t0032g0077
a0001c0001t0033g0061
a0001c0001t0034g0079
a0001c0001t0035g0045
a0001c0001t0035g0162
a0001c0001t0036g0192
a0001c0001t0036g0194
a0001c0001t0037g0021
a0001c0001t0038g0065
a0001c0001t0038g0166
a0001c0001t0039g0055
a0001c0001t0040g0052
a0001c0001t0045g0069
a0001c0001t0047g0186
a0001c0001t0057g0036
a0001c0001t0058g0176
a0001c0001t0061g0075
a0001c0001t0062g0076
a0001c0001t0063g0164
a0001c0001t0064g0071
a0001c0001t0065g0068
a0001c0001t0067g0054
a0001c0001t0068g0037
a0001c0001t0069g0038
a0001c0001t0070g0046
a0001c0001t0071g0040
a0001c0001t0072g0053
a0001c0001t0073g0043
a0001c0001t0074g0193
a0001c0001t0075g0189
a0001c0001t0076g0195
a0001c0001t0077g0035
a0001c0001t0078g0063
a0001c0001t0079g0064
a0001c0001t0080g0059
a0001c0001t0081g0201
a0002c0004t0002g0153
124 HG00099.hp2
HG00140.hp1
HG00280.hp2
others(121): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00621.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp2
HG01257.hp1
HG01346.hp2
HG01358.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01884.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp2
HG02015.hp2
HG02027.hp2
HG02055.hp2
HG02109.hp2
HG02148.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp2
HG03579.hp2
HG03688.hp2
HG03831.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18960.hp2
NA18977.hp1
NA18979.hp1
NA18999.hp1
NA19005.hp2
NA19012.hp1
NA19030.hp2
NA19043.hp2
NA19062.hp1
NA19068.hp1
NA19086.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp2
NA20805.hp2
NA20905.hp1
intron_variant MODIFIER c.115+538delT
c.115+538delT
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 2/8 chr12 123631806
chr12:123631898 TGA
TGA
T
T
4 a0001c0001t0018g0039
a0001c0001t0018g0041
a0001c0001t0069g0038
others(1): Show 
a0001c0001t0018g0039
a0001c0001t0018g0041
a0001c0001t0069g0038
a0001c0001t0071g0040
4 HG01109.hp1
HG01256.hp2
HG03942.hp1
others(1): Show 
HG01109.hp1
HG01256.hp2
HG03942.hp1
HG04199.hp1
intron_variant MODIFIER c.115+445_115+446del
others(2): Show 
c.115+445_115+446delTC
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 2/8 chr12 123631898
chr12:123631936 T
T
C
C
46 a0001c0001t0003g0199
a0001c0001t0010g0198
a0001c0001t0011g0019
others(43): Show 
a0001c0001t0003g0199
a0001c0001t0010g0198
a0001c0001t0011g0019
a0001c0001t0011g0032
a0001c0001t0011g0049
a0001c0001t0011g0050
a0001c0001t0013g0196
a0001c0001t0016g0197
a0001c0001t0017g0018
a0001c0001t0017g0042
a0001c0001t0017g0047
a0001c0001t0018g0039
a0001c0001t0018g0041
a0001c0001t0018g0051
a0001c0001t0018g0183
a0001c0001t0024g0044
a0001c0001t0024g0048
a0001c0001t0024g0163
a0001c0001t0025g0033
a0001c0001t0025g0182
a0001c0001t0028g0190
a0001c0001t0028g0191
a0001c0001t0030g0180
a0001c0001t0030g0181
a0001c0001t0034g0079
a0001c0001t0035g0045
a0001c0001t0035g0162
a0001c0001t0036g0192
a0001c0001t0036g0194
a0001c0001t0040g0052
a0001c0001t0046g0187
a0001c0001t0047g0186
a0001c0001t0048g0188
a0001c0001t0063g0164
a0001c0001t0067g0054
a0001c0001t0068g0037
a0001c0001t0069g0038
a0001c0001t0070g0046
a0001c0001t0071g0040
a0001c0001t0072g0053
a0001c0001t0073g0043
a0001c0001t0074g0193
a0001c0001t0075g0189
a0001c0001t0076g0195
a0001c0001t0077g0035
a0001c0001t0081g0201
50 HG01099.hp1
HG01109.hp1
HG01243.hp1
others(47): Show 
HG01099.hp1
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01346.hp2
HG01884.hp1
HG01975.hp1
HG01978.hp1
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03540.hp2
HG03579.hp2
HG03942.hp1
HG04199.hp1
NA18522.hp2
NA18906.hp1
NA19030.hp2
NA19043.hp2
NA19240.hp1
intron_variant MODIFIER c.115+409A>G
c.115+409A>G
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 2/8 chr12 123631936
chr12:123631974 C
C
CA
CA
29 a0001c0001t0011g0019
a0001c0001t0011g0032
a0001c0001t0011g0049
others(26): Show 
a0001c0001t0011g0019
a0001c0001t0011g0032
a0001c0001t0011g0049
a0001c0001t0011g0050
a0001c0001t0017g0018
a0001c0001t0017g0042
a0001c0001t0017g0047
a0001c0001t0018g0039
a0001c0001t0018g0041
a0001c0001t0018g0051
a0001c0001t0018g0183
a0001c0001t0024g0044
a0001c0001t0024g0048
a0001c0001t0024g0163
a0001c0001t0025g0182
a0001c0001t0030g0180
a0001c0001t0030g0181
a0001c0001t0034g0079
a0001c0001t0035g0045
a0001c0001t0035g0162
a0001c0001t0040g0052
a0001c0001t0063g0164
a0001c0001t0067g0054
a0001c0001t0068g0037
a0001c0001t0069g0038
a0001c0001t0070g0046
a0001c0001t0071g0040
a0001c0001t0072g0053
a0001c0001t0073g0043
32 HG01109.hp1
HG01243.hp1
HG01243.hp2
others(29): Show 
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01884.hp1
HG02257.hp1
HG02258.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02717.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02976.hp1
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03471.hp1
HG03540.hp2
HG03579.hp2
HG03942.hp1
HG04199.hp1
NA18522.hp2
NA19030.hp2
intron_variant MODIFIER c.115+370dupT
c.115+370dupT
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 2/8 chr12 123631974
chr12:123631987 C
C
A
A
17 a0001c0001t0003g0199
a0001c0001t0010g0198
a0001c0001t0013g0196
others(14): Show 
a0001c0001t0003g0199
a0001c0001t0010g0198
a0001c0001t0013g0196
a0001c0001t0016g0197
a0001c0001t0025g0033
a0001c0001t0028g0190
a0001c0001t0028g0191
a0001c0001t0036g0192
a0001c0001t0036g0194
a0001c0001t0046g0187
a0001c0001t0047g0186
a0001c0001t0048g0188
a0001c0001t0074g0193
a0001c0001t0075g0189
a0001c0001t0076g0195
a0001c0001t0077g0035
a0001c0001t0081g0201
18 HG01099.hp1
HG01346.hp2
HG01975.hp1
others(15): Show 
HG01099.hp1
HG01346.hp2
HG01975.hp1
HG01978.hp1
HG02145.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02886.hp2
HG02895.hp2
HG02970.hp1
HG02976.hp2
HG03098.hp1
HG03453.hp2
HG03486.hp1
NA18906.hp1
NA19043.hp2
NA19240.hp1
intron_variant MODIFIER c.115+358G>T
c.115+358G>T
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 2/8 chr12 123631987
chr12:123631992 G
G
A
A
1 a0001c0001t0004g0152
a0001c0001t0004g0152
1 HG01978.hp2
HG01978.hp2
intron_variant MODIFIER c.115+353C>T
c.115+353C>T
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 2/8 chr12 123631992
chr12:123632038 A
A
G
G
76 a0001c0001t0003g0199
a0001c0001t0010g0020
a0001c0001t0010g0060
others(73): Show 
a0001c0001t0003g0199
a0001c0001t0010g0020
a0001c0001t0010g0060
a0001c0001t0010g0067
a0001c0001t0010g0070
a0001c0001t0010g0198
a0001c0001t0011g0019
a0001c0001t0011g0032
a0001c0001t0011g0049
a0001c0001t0011g0050
a0001c0001t0013g0023
a0001c0001t0013g0056
a0001c0001t0013g0066
a0001c0001t0013g0196
a0001c0001t0016g0057
a0001c0001t0016g0058
a0001c0001t0016g0078
a0001c0001t0016g0197
a0001c0001t0017g0018
a0001c0001t0017g0042
a0001c0001t0017g0047
a0001c0001t0018g0039
a0001c0001t0018g0041
a0001c0001t0018g0051
a0001c0001t0018g0183
a0001c0001t0022g0022
a0001c0001t0022g0073
a0001c0001t0023g0062
a0001c0001t0023g0072
a0001c0001t0023g0165
a0001c0001t0024g0044
a0001c0001t0024g0048
a0001c0001t0024g0163
a0001c0001t0025g0033
a0001c0001t0025g0182
a0001c0001t0028g0190
a0001c0001t0028g0191
a0001c0001t0030g0180
a0001c0001t0030g0181
a0001c0001t0032g0074
a0001c0001t0032g0077
a0001c0001t0033g0061
a0001c0001t0034g0079
a0001c0001t0035g0045
a0001c0001t0035g0162
a0001c0001t0036g0192
a0001c0001t0036g0194
a0001c0001t0037g0021
a0001c0001t0038g0065
a0001c0001t0038g0166
a0001c0001t0039g0055
a0001c0001t0040g0052
a0001c0001t0045g0069
a0001c0001t0046g0187
a0001c0001t0047g0186
a0001c0001t0048g0188
a0001c0001t0061g0075
a0001c0001t0062g0076
a0001c0001t0063g0164
a0001c0001t0064g0071
a0001c0001t0065g0068
a0001c0001t0067g0054
a0001c0001t0068g0037
a0001c0001t0069g0038
a0001c0001t0070g0046
a0001c0001t0071g0040
a0001c0001t0072g0053
a0001c0001t0073g0043
a0001c0001t0074g0193
a0001c0001t0075g0189
a0001c0001t0076g0195
a0001c0001t0077g0035
a0001c0001t0078g0063
a0001c0001t0079g0064
a0001c0001t0080g0059
a0001c0001t0081g0201
84 HG00280.hp2
HG00408.hp1
HG00621.hp2
others(81): Show 
HG00280.hp2
HG00408.hp1
HG00621.hp2
HG00673.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01346.hp2
HG01884.hp1
HG01891.hp2
HG01975.hp1
HG01978.hp1
HG02015.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03491.hp2
HG03492.hp2
HG03540.hp2
HG03579.hp2
HG03942.hp1
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18979.hp1
NA18999.hp1
NA19012.hp1
NA19030.hp2
NA19043.hp2
NA19062.hp1
NA19068.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp2
NA20905.hp1
intron_variant MODIFIER c.115+307T>C
c.115+307T>C
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 2/8 chr12 123632038
chr12:123632261 C
C
G
G
29 a0001c0001t0011g0019
a0001c0001t0011g0032
a0001c0001t0011g0049
others(26): Show 
a0001c0001t0011g0019
a0001c0001t0011g0032
a0001c0001t0011g0049
a0001c0001t0011g0050
a0001c0001t0017g0018
a0001c0001t0017g0042
a0001c0001t0017g0047
a0001c0001t0018g0039
a0001c0001t0018g0041
a0001c0001t0018g0051
a0001c0001t0018g0183
a0001c0001t0024g0044
a0001c0001t0024g0048
a0001c0001t0024g0163
a0001c0001t0025g0182
a0001c0001t0030g0180
a0001c0001t0030g0181
a0001c0001t0034g0079
a0001c0001t0035g0045
a0001c0001t0035g0162
a0001c0001t0040g0052
a0001c0001t0063g0164
a0001c0001t0067g0054
a0001c0001t0068g0037
a0001c0001t0069g0038
a0001c0001t0070g0046
a0001c0001t0071g0040
a0001c0001t0072g0053
a0001c0001t0073g0043
32 HG01109.hp1
HG01243.hp1
HG01243.hp2
others(29): Show 
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01884.hp1
HG02257.hp1
HG02258.hp1
HG02451.hp1
HG02486.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02717.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02976.hp1
HG03139.hp1
HG03209.hp1
HG03209.hp2
HG03471.hp1
HG03540.hp2
HG03579.hp2
HG03942.hp1
HG04199.hp1
NA18522.hp2
NA19030.hp2
intron_variant MODIFIER c.115+84G>C
c.115+84G>C
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 2/8 chr12 123632261
chr12:123632265 C
C
G
G
2 a0001c0003t0002g0080
a0001c0003t0015g0081
a0001c0003t0002g0080
a0001c0003t0015g0081
2 NA18970.hp1
NA19009.hp2
NA18970.hp1
NA19009.hp2
intron_variant MODIFIER c.115+80G>C
c.115+80G>C
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 2/8 chr12 123632265
chr12:123632270 T
T
TA
TA
26 a0001c0001t0001g0015
a0001c0001t0001g0175
a0001c0001t0002g0158
others(23): Show 
a0001c0001t0001g0015
a0001c0001t0001g0175
a0001c0001t0002g0158
a0001c0001t0002g0159
a0001c0001t0002g0160
a0001c0001t0002g0172
a0001c0001t0003g0003
a0001c0001t0003g0014
a0001c0001t0003g0017
a0001c0001t0003g0031
a0001c0001t0003g0034
a0001c0001t0003g0173
a0001c0001t0003g0177
a0001c0001t0003g0179
a0001c0001t0003g0185
a0001c0001t0004g0174
a0001c0001t0015g0157
a0001c0001t0021g0016
a0001c0001t0031g0178
a0001c0001t0032g0074
a0001c0001t0032g0077
a0001c0001t0048g0188
a0001c0001t0057g0036
a0001c0001t0058g0176
a0001c0001t0061g0075
a0001c0001t0062g0076
47 HG00099.hp2
HG00140.hp1
HG00323.hp1
others(44): Show 
HG00099.hp2
HG00140.hp1
HG00323.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp2
HG01074.hp1
HG01081.hp2
HG01175.hp1
HG01255.hp1
HG01257.hp1
HG01358.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01891.hp2
HG01934.hp2
HG01981.hp2
HG02027.hp2
HG02148.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02698.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03017.hp2
HG03139.hp2
HG03225.hp1
HG03490.hp1
HG03492.hp1
HG03688.hp2
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04204.hp2
NA18522.hp1
NA18612.hp2
NA18906.hp2
NA18960.hp2
NA18977.hp1
NA19005.hp2
NA19086.hp2
NA20300.hp2
intron_variant MODIFIER c.115+74dupT
c.115+74dupT
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 2/8 chr12 123632270
chr12:123632285 A
A
G
G
2 a0001c0001t0016g0057
a0001c0001t0068g0037
a0001c0001t0016g0057
a0001c0001t0068g0037
2 HG01243.hp2
NA20905.hp1
HG01243.hp2
NA20905.hp1
intron_variant MODIFIER c.115+60T>C
c.115+60T>C
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 2/8 chr12 123632285
chr12:123632285 AG
AG
A
A
19 a0001c0001t0003g0199
a0001c0001t0010g0198
a0001c0001t0013g0196
others(16): Show 
a0001c0001t0003g0199
a0001c0001t0010g0198
a0001c0001t0013g0196
a0001c0001t0016g0058
a0001c0001t0016g0197
a0001c0001t0017g0042
a0001c0001t0018g0039
a0001c0001t0018g0041
a0001c0001t0025g0033
a0001c0001t0028g0190
a0001c0001t0030g0180
a0001c0001t0036g0192
a0001c0001t0036g0194
a0001c0001t0069g0038
a0001c0001t0071g0040
a0001c0001t0073g0043
a0001c0001t0074g0193
a0001c0001t0075g0189
a0001c0001t0076g0195
20 HG01099.hp1
HG01109.hp1
HG01256.hp2
others(17): Show 
HG01099.hp1
HG01109.hp1
HG01256.hp2
HG01346.hp2
HG01975.hp1
HG01978.hp1
HG02451.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02886.hp2
HG02895.hp2
HG03041.hp1
HG03098.hp1
HG03209.hp2
HG03942.hp1
HG04199.hp1
NA18522.hp2
NA18906.hp1
NA19240.hp1
intron_variant MODIFIER c.115+59delC
c.115+59delC
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 2/8 chr12 123632285
chr12:123632286 G
G
A
A
82 a0001c0001t0001g0015
a0001c0001t0001g0175
a0001c0001t0002g0158
others(79): Show 
a0001c0001t0001g0015
a0001c0001t0001g0175
a0001c0001t0002g0158
a0001c0001t0002g0159
a0001c0001t0002g0160
a0001c0001t0002g0172
a0001c0001t0003g0003
a0001c0001t0003g0014
a0001c0001t0003g0017
a0001c0001t0003g0031
a0001c0001t0003g0034
a0001c0001t0003g0171
a0001c0001t0003g0173
a0001c0001t0003g0177
a0001c0001t0003g0179
a0001c0001t0003g0185
a0001c0001t0003g0200
a0001c0001t0004g0174
a0001c0001t0010g0020
a0001c0001t0010g0060
a0001c0001t0010g0067
a0001c0001t0010g0070
a0001c0001t0011g0019
a0001c0001t0011g0032
a0001c0001t0011g0049
a0001c0001t0011g0050
a0001c0001t0013g0023
a0001c0001t0013g0056
a0001c0001t0013g0066
a0001c0001t0015g0157
a0001c0001t0016g0057
a0001c0001t0016g0078
a0001c0001t0017g0018
a0001c0001t0017g0047
a0001c0001t0018g0051
a0001c0001t0018g0183
a0001c0001t0021g0016
a0001c0001t0022g0022
a0001c0001t0022g0073
a0001c0001t0023g0062
a0001c0001t0023g0072
a0001c0001t0023g0165
a0001c0001t0024g0044
a0001c0001t0024g0048
a0001c0001t0024g0163
a0001c0001t0025g0182
a0001c0001t0028g0191
a0001c0001t0030g0181
a0001c0001t0031g0170
a0001c0001t0031g0178
a0001c0001t0032g0074
a0001c0001t0032g0077
a0001c0001t0033g0061
a0001c0001t0034g0079
a0001c0001t0035g0045
a0001c0001t0035g0162
a0001c0001t0037g0021
a0001c0001t0038g0065
a0001c0001t0038g0166
a0001c0001t0039g0055
a0001c0001t0040g0052
a0001c0001t0045g0069
a0001c0001t0057g0036
a0001c0001t0058g0176
a0001c0001t0061g0075
a0001c0001t0062g0076
a0001c0001t0063g0164
a0001c0001t0064g0071
a0001c0001t0065g0068
a0001c0001t0067g0054
a0001c0001t0068g0037
a0001c0001t0070g0046
a0001c0001t0072g0053
a0001c0001t0077g0035
a0001c0001t0078g0063
a0001c0001t0079g0064
a0001c0001t0080g0059
a0001c0002t0051g0154
a0001c0002t0052g0184
a0001c0002t0053g0155
a0001c0002t0054g0156
a0002c0004t0002g0153
110 HG00099.hp2
HG00140.hp1
HG00280.hp2
others(107): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00621.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01257.hp1
HG01358.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01884.hp1
HG01891.hp2
HG01934.hp2
HG01981.hp2
HG02015.hp2
HG02027.hp2
HG02055.hp2
HG02109.hp2
HG02145.hp2
HG02148.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp2
HG03579.hp2
HG03688.hp2
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp2
NA18906.hp2
NA18960.hp2
NA18977.hp1
NA18979.hp1
NA18999.hp1
NA19005.hp2
NA19012.hp1
NA19030.hp2
NA19043.hp2
NA19062.hp1
NA19068.hp1
NA19086.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA20805.hp2
NA20905.hp1
intron_variant MODIFIER c.115+59C>T
c.115+59C>T
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 2/8 chr12 123632286
chr12:123632287 A
A
G
G
1 a0001c0001t0013g0056
a0001c0001t0013g0056
1 HG04199.hp2
HG04199.hp2
intron_variant MODIFIER c.115+58T>C
c.115+58T>C
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 2/8 chr12 123632287
chr12:123632542 T
T
G
G
29 a0001c0001t0010g0020
a0001c0001t0010g0060
a0001c0001t0010g0067
others(26): Show 
a0001c0001t0010g0020
a0001c0001t0010g0060
a0001c0001t0010g0067
a0001c0001t0010g0070
a0001c0001t0013g0023
a0001c0001t0013g0056
a0001c0001t0013g0066
a0001c0001t0016g0057
a0001c0001t0016g0058
a0001c0001t0016g0078
a0001c0001t0022g0022
a0001c0001t0022g0073
a0001c0001t0023g0062
a0001c0001t0023g0072
a0001c0001t0023g0165
a0001c0001t0032g0074
a0001c0001t0032g0077
a0001c0001t0033g0061
a0001c0001t0037g0021
a0001c0001t0038g0065
a0001c0001t0038g0166
a0001c0001t0045g0069
a0001c0001t0061g0075
a0001c0001t0062g0076
a0001c0001t0064g0071
a0001c0001t0065g0068
a0001c0001t0078g0063
a0001c0001t0079g0064
a0001c0001t0080g0059
33 HG00280.hp2
HG00408.hp1
HG00621.hp2
others(30): Show 
HG00280.hp2
HG00408.hp1
HG00621.hp2
HG00673.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01175.hp2
HG01891.hp2
HG02015.hp2
HG02109.hp2
HG02523.hp1
HG02622.hp1
HG02622.hp2
HG02698.hp1
HG02717.hp2
HG02735.hp1
HG02896.hp2
HG03041.hp1
HG03195.hp2
HG03491.hp2
HG03492.hp2
HG04184.hp1
HG04199.hp2
NA18906.hp2
NA18979.hp1
NA18999.hp1
NA19012.hp1
NA19062.hp1
NA19068.hp1
NA20129.hp1
NA20300.hp2
NA20905.hp1
intron_variant MODIFIER c.14-96A>C
c.14-96A>C
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 1/8 chr12 123632542
chr12:123632640 T
T
C
C
1 a0001c0001t0016g0078
a0001c0001t0016g0078
1 HG01099.hp2
HG01099.hp2
intron_variant MODIFIER c.14-194A>G
c.14-194A>G
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 1/8 chr12 123632640
chr12:123632710 T
T
G
G
105 a0001c0001t0001g0015
a0001c0001t0001g0175
a0001c0001t0002g0158
others(102): Show 
a0001c0001t0001g0015
a0001c0001t0001g0175
a0001c0001t0002g0158
a0001c0001t0002g0159
a0001c0001t0002g0160
a0001c0001t0002g0172
a0001c0001t0003g0003
a0001c0001t0003g0014
a0001c0001t0003g0017
a0001c0001t0003g0031
a0001c0001t0003g0034
a0001c0001t0003g0171
a0001c0001t0003g0173
a0001c0001t0003g0177
a0001c0001t0003g0179
a0001c0001t0003g0185
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0004g0174
a0001c0001t0010g0020
a0001c0001t0010g0060
a0001c0001t0010g0067
a0001c0001t0010g0070
a0001c0001t0010g0198
a0001c0001t0011g0019
a0001c0001t0011g0032
a0001c0001t0011g0049
a0001c0001t0011g0050
a0001c0001t0013g0023
a0001c0001t0013g0056
a0001c0001t0013g0066
a0001c0001t0013g0196
a0001c0001t0015g0157
a0001c0001t0016g0057
a0001c0001t0016g0058
a0001c0001t0016g0078
a0001c0001t0016g0197
a0001c0001t0017g0018
a0001c0001t0017g0042
a0001c0001t0017g0047
a0001c0001t0018g0039
a0001c0001t0018g0041
a0001c0001t0018g0051
a0001c0001t0018g0183
a0001c0001t0021g0016
a0001c0001t0022g0022
a0001c0001t0022g0073
a0001c0001t0023g0062
a0001c0001t0023g0072
a0001c0001t0023g0165
a0001c0001t0024g0044
a0001c0001t0024g0048
a0001c0001t0024g0163
a0001c0001t0025g0033
a0001c0001t0025g0182
a0001c0001t0028g0190
a0001c0001t0028g0191
a0001c0001t0030g0180
a0001c0001t0030g0181
a0001c0001t0031g0170
a0001c0001t0031g0178
a0001c0001t0032g0074
a0001c0001t0032g0077
a0001c0001t0033g0061
a0001c0001t0034g0079
a0001c0001t0035g0045
a0001c0001t0035g0162
a0001c0001t0036g0192
a0001c0001t0036g0194
a0001c0001t0037g0021
a0001c0001t0038g0065
a0001c0001t0038g0166
a0001c0001t0039g0055
a0001c0001t0040g0052
a0001c0001t0045g0069
a0001c0001t0046g0187
a0001c0001t0047g0186
a0001c0001t0048g0188
a0001c0001t0057g0036
a0001c0001t0058g0176
a0001c0001t0061g0075
a0001c0001t0062g0076
a0001c0001t0063g0164
a0001c0001t0064g0071
a0001c0001t0065g0068
a0001c0001t0067g0054
a0001c0001t0068g0037
a0001c0001t0069g0038
a0001c0001t0070g0046
a0001c0001t0071g0040
a0001c0001t0072g0053
a0001c0001t0073g0043
a0001c0001t0074g0193
a0001c0001t0075g0189
a0001c0001t0076g0195
a0001c0001t0077g0035
a0001c0001t0078g0063
a0001c0001t0079g0064
a0001c0001t0080g0059
a0001c0001t0081g0201
a0001c0002t0051g0154
a0001c0002t0052g0184
a0001c0002t0053g0155
a0001c0002t0054g0156
a0002c0004t0002g0153
134 HG00099.hp2
HG00140.hp1
HG00280.hp2
others(131): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00621.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp2
HG01257.hp1
HG01346.hp2
HG01358.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp1
HG01884.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp2
HG02015.hp2
HG02027.hp2
HG02055.hp2
HG02109.hp2
HG02145.hp2
HG02148.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03098.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp2
HG03579.hp2
HG03688.hp2
HG03831.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18960.hp2
NA18977.hp1
NA18979.hp1
NA18999.hp1
NA19005.hp2
NA19012.hp1
NA19030.hp2
NA19043.hp2
NA19062.hp1
NA19068.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA20805.hp2
NA20905.hp1
intron_variant MODIFIER c.14-264A>C
c.14-264A>C
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 1/8 chr12 123632710
chr12:123632757 T
T
TA
TA
6 a0001c0001t0011g0032
a0001c0001t0018g0183
a0001c0001t0025g0182
others(3): Show 
a0001c0001t0011g0032
a0001c0001t0018g0183
a0001c0001t0025g0182
a0001c0001t0030g0180
a0001c0001t0030g0181
a0001c0001t0034g0079
7 HG01243.hp1
HG01884.hp1
HG02559.hp1
others(4): Show 
HG01243.hp1
HG01884.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp2
HG02630.hp1
HG03209.hp2
intron_variant MODIFIER c.14-312dupT
c.14-312dupT
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 1/8 chr12 123632757
chr12:123632774 G
G
A
A
1 a0001c0001t0007g0161
a0001c0001t0007g0161
1 HG04228.hp1
HG04228.hp1
intron_variant MODIFIER c.14-328C>T
c.14-328C>T
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 1/8 chr12 123632774
chr12:123632899 C
C
T
T
76 a0001c0001t0003g0199
a0001c0001t0010g0020
a0001c0001t0010g0060
others(73): Show 
a0001c0001t0003g0199
a0001c0001t0010g0020
a0001c0001t0010g0060
a0001c0001t0010g0067
a0001c0001t0010g0070
a0001c0001t0010g0198
a0001c0001t0011g0019
a0001c0001t0011g0032
a0001c0001t0011g0049
a0001c0001t0011g0050
a0001c0001t0013g0023
a0001c0001t0013g0056
a0001c0001t0013g0066
a0001c0001t0013g0196
a0001c0001t0016g0057
a0001c0001t0016g0058
a0001c0001t0016g0078
a0001c0001t0016g0197
a0001c0001t0017g0018
a0001c0001t0017g0042
a0001c0001t0017g0047
a0001c0001t0018g0039
a0001c0001t0018g0041
a0001c0001t0018g0051
a0001c0001t0018g0183
a0001c0001t0022g0022
a0001c0001t0022g0073
a0001c0001t0023g0062
a0001c0001t0023g0072
a0001c0001t0023g0165
a0001c0001t0024g0044
a0001c0001t0024g0048
a0001c0001t0024g0163
a0001c0001t0025g0033
a0001c0001t0025g0182
a0001c0001t0028g0190
a0001c0001t0028g0191
a0001c0001t0030g0180
a0001c0001t0030g0181
a0001c0001t0032g0074
a0001c0001t0032g0077
a0001c0001t0033g0061
a0001c0001t0034g0079
a0001c0001t0035g0045
a0001c0001t0035g0162
a0001c0001t0036g0192
a0001c0001t0036g0194
a0001c0001t0037g0021
a0001c0001t0038g0065
a0001c0001t0038g0166
a0001c0001t0039g0055
a0001c0001t0040g0052
a0001c0001t0045g0069
a0001c0001t0046g0187
a0001c0001t0047g0186
a0001c0001t0048g0188
a0001c0001t0061g0075
a0001c0001t0062g0076
a0001c0001t0063g0164
a0001c0001t0064g0071
a0001c0001t0065g0068
a0001c0001t0067g0054
a0001c0001t0068g0037
a0001c0001t0069g0038
a0001c0001t0070g0046
a0001c0001t0071g0040
a0001c0001t0072g0053
a0001c0001t0073g0043
a0001c0001t0074g0193
a0001c0001t0075g0189
a0001c0001t0076g0195
a0001c0001t0077g0035
a0001c0001t0078g0063
a0001c0001t0079g0064
a0001c0001t0080g0059
a0001c0001t0081g0201
84 HG00280.hp2
HG00408.hp1
HG00621.hp2
others(81): Show 
HG00280.hp2
HG00408.hp1
HG00621.hp2
HG00673.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01256.hp2
HG01346.hp2
HG01884.hp1
HG01891.hp2
HG01975.hp1
HG01978.hp1
HG02015.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02258.hp1
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03491.hp2
HG03492.hp2
HG03540.hp2
HG03579.hp2
HG03942.hp1
HG04184.hp1
HG04199.hp1
HG04199.hp2
HG06807.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18979.hp1
NA18999.hp1
NA19012.hp1
NA19030.hp2
NA19043.hp2
NA19062.hp1
NA19068.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp2
NA20905.hp1
intron_variant MODIFIER c.14-453G>A
c.14-453G>A
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 1/8 chr12 123632899
chr12:123632924 T
T
C
C
17 a0001c0001t0003g0199
a0001c0001t0010g0198
a0001c0001t0013g0196
others(14): Show 
a0001c0001t0003g0199
a0001c0001t0010g0198
a0001c0001t0013g0196
a0001c0001t0016g0197
a0001c0001t0025g0033
a0001c0001t0028g0190
a0001c0001t0028g0191
a0001c0001t0036g0192
a0001c0001t0036g0194
a0001c0001t0046g0187
a0001c0001t0047g0186
a0001c0001t0048g0188
a0001c0001t0074g0193
a0001c0001t0075g0189
a0001c0001t0076g0195
a0001c0001t0077g0035
a0001c0001t0081g0201
18 HG01099.hp1
HG01346.hp2
HG01975.hp1
others(15): Show 
HG01099.hp1
HG01346.hp2
HG01975.hp1
HG01978.hp1
HG02145.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02886.hp2
HG02895.hp2
HG02970.hp1
HG02976.hp2
HG03098.hp1
HG03453.hp2
HG03486.hp1
NA18906.hp1
NA19043.hp2
NA19240.hp1
intron_variant MODIFIER c.14-478A>G
c.14-478A>G
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 1/8 chr12 123632924
chr12:123632945 C
C
CA
CA
25 a0001c0001t0001g0168
a0001c0001t0001g0175
a0001c0001t0002g0172
others(22): Show 
a0001c0001t0001g0168
a0001c0001t0001g0175
a0001c0001t0002g0172
a0001c0001t0003g0003
a0001c0001t0003g0014
a0001c0001t0003g0017
a0001c0001t0003g0031
a0001c0001t0003g0034
a0001c0001t0003g0171
a0001c0001t0003g0173
a0001c0001t0003g0177
a0001c0001t0003g0179
a0001c0001t0003g0200
a0001c0001t0004g0167
a0001c0001t0004g0174
a0001c0001t0006g0169
a0001c0001t0023g0165
a0001c0001t0024g0163
a0001c0001t0031g0170
a0001c0001t0031g0178
a0001c0001t0035g0162
a0001c0001t0038g0166
a0001c0001t0057g0036
a0001c0001t0058g0176
a0001c0001t0063g0164
42 HG00099.hp2
HG00323.hp1
HG00733.hp2
others(39): Show 
HG00099.hp2
HG00323.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp2
HG01074.hp1
HG01081.hp2
HG01168.hp1
HG01175.hp2
HG01255.hp1
HG01516.hp1
HG01934.hp2
HG02027.hp2
HG02148.hp1
HG02148.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02523.hp2
HG02698.hp2
HG02818.hp1
HG02922.hp1
HG02970.hp2
HG03017.hp2
HG03139.hp2
HG03225.hp1
HG03490.hp1
HG03492.hp1
HG03688.hp2
HG03831.hp1
HG03927.hp1
HG03942.hp2
HG04204.hp2
NA18522.hp1
NA18612.hp2
NA18960.hp2
NA18977.hp1
NA19005.hp2
NA19012.hp1
NA19062.hp2
NA19086.hp2
NA20805.hp2
intron_variant MODIFIER c.14-500dupT
c.14-500dupT
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 1/8 chr12 123632945
chr12:123632945 C
C
CAA
CAA
9 a0001c0001t0001g0015
a0001c0001t0003g0185
a0001c0001t0011g0032
others(6): Show 
a0001c0001t0001g0015
a0001c0001t0003g0185
a0001c0001t0011g0032
a0001c0001t0018g0183
a0001c0001t0021g0016
a0001c0001t0025g0182
a0001c0001t0030g0180
a0001c0001t0030g0181
a0001c0002t0052g0184
14 HG00140.hp1
HG01175.hp1
HG01243.hp1
others(11): Show 
HG00140.hp1
HG01175.hp1
HG01243.hp1
HG01257.hp1
HG01358.hp1
HG01515.hp2
HG01517.hp1
HG01884.hp1
HG01981.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02630.hp1
HG03209.hp2
intron_variant MODIFIER c.14-501_14-500dupTT
c.14-501_14-500dupTT
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 1/8 chr12 123632945
chr12:123632945 C
C
CAAAAAAA
others(1): Show 
CAAAAAAAA
9 a0001c0001t0003g0199
a0001c0001t0010g0198
a0001c0001t0013g0196
others(6): Show 
a0001c0001t0003g0199
a0001c0001t0010g0198
a0001c0001t0013g0196
a0001c0001t0016g0197
a0001c0001t0025g0033
a0001c0001t0036g0192
a0001c0001t0036g0194
a0001c0001t0074g0193
a0001c0001t0076g0195
10 HG01099.hp1
HG01346.hp2
HG01975.hp1
others(7): Show 
HG01099.hp1
HG01346.hp2
HG01975.hp1
HG01978.hp1
HG02647.hp1
HG02647.hp2
HG02886.hp2
HG03098.hp1
NA18906.hp1
NA19240.hp1
intron_variant MODIFIER c.14-507_14-500dupTT
others(6): Show 
c.14-507_14-500dupTTTTTTTT
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 1/8 chr12 123632945
chr12:123633137 CAT
CAT
C
C
17 a0001c0001t0003g0199
a0001c0001t0010g0198
a0001c0001t0013g0196
others(14): Show 
a0001c0001t0003g0199
a0001c0001t0010g0198
a0001c0001t0013g0196
a0001c0001t0016g0197
a0001c0001t0025g0033
a0001c0001t0028g0190
a0001c0001t0028g0191
a0001c0001t0036g0192
a0001c0001t0036g0194
a0001c0001t0046g0187
a0001c0001t0047g0186
a0001c0001t0048g0188
a0001c0001t0074g0193
a0001c0001t0075g0189
a0001c0001t0076g0195
a0001c0001t0077g0035
a0001c0001t0081g0201
18 HG01099.hp1
HG01346.hp2
HG01975.hp1
others(15): Show 
HG01099.hp1
HG01346.hp2
HG01975.hp1
HG01978.hp1
HG02145.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02886.hp2
HG02895.hp2
HG02970.hp1
HG02976.hp2
HG03098.hp1
HG03453.hp2
HG03486.hp1
NA18906.hp1
NA19043.hp2
NA19240.hp1
intron_variant MODIFIER c.13+406_13+407delAT
c.13+406_13+407delAT
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 1/8 chr12 123633137
chr12:123633221 T
T
G
G
3 a0001c0001t0003g0017
a0001c0001t0003g0034
a0001c0001t0003g0200
a0001c0001t0003g0017
a0001c0001t0003g0034
a0001c0001t0003g0200
6 HG02257.hp2
HG02922.hp1
HG02970.hp2
others(3): Show 
HG02257.hp2
HG02922.hp1
HG02970.hp2
HG03139.hp2
HG03225.hp1
NA18522.hp1
intron_variant MODIFIER c.13+324A>C
c.13+324A>C
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 1/8 chr12 123633221
chr12:123633448 A
A
G
G
1 a0001c0001t0057g0036
a0001c0001t0057g0036
1 NA18960.hp2
NA18960.hp2
intron_variant MODIFIER c.13+97T>C
c.13+97T>C
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 1/8 chr12 123633448
chr12:123633493 A
A
C
C
1 a0001c0001t0077g0035
a0001c0001t0077g0035
1 NA19043.hp2
NA19043.hp2
intron_variant MODIFIER c.13+52T>G
c.13+52T>G
EIF2B1 ENSG00000111361.13 transcript ENST00000424014.7 protein_coding 1/8 chr12 123633493

  • 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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