geneid | 1292 |
---|---|
ensemblid | ENSG00000142173.17 |
hgncid | 2212 |
symbol | COL6A2 |
name | collagen type VI alpha 2 chain |
refseq_nuc | NM_001849.4 |
refseq_prot | NP_001840.3 |
ensembl_nuc | ENST00000300527.9 |
ensembl_prot | ENSP00000300527.4 |
mane_status | MANE Select |
chr | chr21 |
start | 46098112 |
end | 46132848 |
strand | + |
ver | v1.2 |
region | chr21:46098112-46132848 |
region5000 | chr21:46093112-46137848 |
regionname0 | COL6A2_chr21_46098112_46132848 |
regionname5000 | COL6A2_chr21_46093112_46137848 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 0/1 | 36 | 249 | 40 | 52 | 120 | 11 | 25 | 94 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0002 | 1/0 | 1019 | 55 | 19 | 4 | 13 | 3 | 15 | 4 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0003 | 0/0 | 1019 | 24 | 9 | 3 | 10 | 0 | 2 | 7 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0004 | 0/0 | 1019 | 17 | 9 | 3 | 3 | 1 | 1 | 2 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0005 | 0/0 | 1019 | 4 | 0 | 0 | 4 | 0 | 0 | 3 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0006 | 0/0 | 1019 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0007 | 0/0 | 1019 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0008 | 0/0 | 1019 | 2 | 0 | 0 | 0 | 2 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0009 | 0/0 | 1019 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0010 | 0/0 | 1019 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0011 | 0/0 | 1019 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0012 | 0/0 | 1019 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0013 | 0/0 | 1019 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0014 | 0/0 | 1019 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
chapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
c0001 | 0/1 | 3055 | 77 | 4 | 20 | 38 | 2 | 12 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
c0002 | 0/0 | 3055 | 74 | 7 | 6 | 56 | 0 | 5 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
c0003 | 1/0 | 3060 | 39 | 6 | 4 | 12 | 3 | 13 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
c0004 | 0/0 | 3055 | 21 | 4 | 9 | 0 | 4 | 4 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
c0005 | 0/0 | 3060 | 17 | 9 | 3 | 3 | 1 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
c0006 | 0/0 | 3055 | 12 | 0 | 0 | 12 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
c0007 | 0/0 | 3055 | 10 | 9 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
c0008 | 0/0 | 3060 | 9 | 0 | 1 | 6 | 0 | 2 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
c0009 | 0/0 | 3055 | 7 | 0 | 4 | 0 | 3 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
c0010 | 0/0 | 3060 | 7 | 5 | 0 | 2 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
c0011 | 0/0 | 3055 | 6 | 4 | 2 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
c0012 | 0/0 | 3060 | 5 | 5 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
c0013 | 0/0 | 3060 | 4 | 2 | 0 | 1 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
c0014 | 0/0 | 3055 | 3 | 0 | 0 | 3 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
c0015 | 0/0 | 3055 | 3 | 2 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
c0016 | 0/0 | 3060 | 3 | 1 | 0 | 2 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
c0017 | 0/0 | 3060 | 3 | 0 | 0 | 3 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
c0018 | 0/0 | 3055 | 2 | 0 | 0 | 0 | 0 | 2 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
c0019 | 0/0 | 3055 | 2 | 0 | 2 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
c0020 | 0/0 | 3055 | 2 | 0 | 0 | 2 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
c0021 | 0/0 | 3055 | 2 | 0 | 2 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
c0022 | 0/0 | 3055 | 2 | 1 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
c0023 | 0/0 | 3055 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
c0024 | 0/0 | 3055 | 2 | 0 | 0 | 2 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
c0025 | 0/0 | 3055 | 2 | 1 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
c0026 | 0/0 | 3055 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
c0027 | 0/0 | 3060 | 2 | 0 | 0 | 0 | 2 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
c0028 | 0/0 | 3060 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
c0029 | 0/0 | 3060 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
c0030 | 0/0 | 3060 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
c0031 | 0/0 | 3060 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
c0032 | 0/0 | 3060 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
c0033 | 0/0 | 3055 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
c0034 | 0/0 | 3055 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
c0035 | 0/0 | 3055 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
c0036 | 0/0 | 3055 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
c0037 | 0/0 | 3055 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
c0038 | 0/0 | 3055 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
c0039 | 0/0 | 3055 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
c0040 | 0/0 | 3055 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
c0041 | 0/0 | 3055 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
c0042 | 0/0 | 3055 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
c0043 | 0/0 | 3055 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
c0044 | 0/0 | 3055 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
c0045 | 0/0 | 3055 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
c0046 | 0/0 | 3055 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
c0047 | 0/0 | 3055 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
c0048 | 0/0 | 3055 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
c0049 | 0/0 | 3055 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
c0050 | 0/0 | 3055 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
c0051 | 0/0 | 3060 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
c0052 | 0/0 | 3060 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
c0053 | 0/0 | 3060 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
c0054 | 0/0 | 3060 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
c0055 | 0/0 | 3060 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
c0056 | 0/0 | 3060 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
c0057 | 0/0 | 3060 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
c0058 | 0/0 | 3060 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
c0059 | 0/0 | 3060 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
c0060 | 0/0 | 3060 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
c0061 | 0/0 | 3060 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
c0062 | 0/0 | 3060 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
c0063 | 0/0 | 3060 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
c0064 | 0/0 | 3060 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
c0065 | 0/0 | 3060 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
c0066 | 0/0 | 3060 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
thapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
t0001 | 1/0 | 386 | 224 | 49 | 47 | 78 | 14 | 35 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
t0002 | 0/0 | 386 | 85 | 11 | 8 | 63 | 0 | 3 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
t0003 | 0/0 | 386 | 20 | 7 | 2 | 6 | 3 | 2 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
t0004 | 0/0 | 386 | 13 | 9 | 2 | 0 | 1 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
t0005 | 0/0 | 386 | 6 | 6 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
t0006 | 0/1 | 386 | 4 | 0 | 2 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
t0007 | 0/0 | 386 | 3 | 3 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
t0008 | 0/0 | 386 | 2 | 0 | 0 | 0 | 0 | 2 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
t0009 | 0/0 | 386 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
t0010 | 0/0 | 386 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
t0011 | 0/0 | 386 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
t0012 | 0/0 | 386 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
t0013 | 0/0 | 386 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
t0014 | 0/0 | 386 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
t0015 | 0/0 | 386 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
ghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
g0001 | 0/0 | 6 | 0 | 0 | 6 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0002 | 0/0 | 4 | 0 | 0 | 4 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0003 | 0/0 | 3 | 0 | 2 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0004 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0005 | 0/0 | 2 | 0 | 1 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0006 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0007 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0008 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0009 | 0/0 | 2 | 0 | 1 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0010 | 0/0 | 2 | 0 | 1 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0011 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0012 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0013 | 0/0 | 2 | 0 | 0 | 0 | 2 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0014 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0015 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0016 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0017 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0018 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0019 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0020 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0021 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0022 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0024 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0025 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0033 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0034 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0037 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0038 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0042 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0043 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0045 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0047 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0048 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0053 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0054 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0055 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0056 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0057 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0058 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0061 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0062 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0063 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0064 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0065 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0066 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0067 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0072 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0076 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0077 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0078 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0079 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0080 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0082 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0084 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0085 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0086 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0089 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0090 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0091 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0092 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0093 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0095 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0096 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0097 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0098 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0102 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0104 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0105 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0106 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0107 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0108 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0109 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0110 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0112 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0115 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0118 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0120 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0121 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0122 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0123 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0124 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0125 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0126 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0127 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0128 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0130 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0132 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0133 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0134 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0135 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0136 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0137 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0138 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0140 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0142 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0143 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0144 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0145 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0146 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0147 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0148 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0149 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0151 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0152 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0153 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0155 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0156 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0157 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0158 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0161 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0162 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0165 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0168 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0169 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0171 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0173 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0174 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0175 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0176 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0177 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0178 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0182 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0183 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0186 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0187 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0188 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0189 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0190 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0192 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0193 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0194 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0195 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0196 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0197 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0198 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0199 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0200 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0201 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0202 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0203 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0204 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0205 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0206 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0207 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0208 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0209 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0210 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0211 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0212 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0213 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0214 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0215 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0216 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0217 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0218 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0219 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0220 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0221 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0222 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0223 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0224 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0225 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0226 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0227 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0228 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0229 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0230 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0231 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0232 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0233 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0234 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0235 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0236 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0237 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0238 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0239 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0240 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0241 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0242 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0243 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0244 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0245 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0246 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0247 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0248 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0249 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0250 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0251 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0252 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0253 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0254 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0255 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0256 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0257 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0258 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0259 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0260 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0261 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0262 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0263 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0264 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0265 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0266 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0267 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0268 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0269 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0270 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0271 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0272 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0273 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0274 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0275 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0276 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0277 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0278 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0279 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0280 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0281 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0282 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0283 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0284 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0285 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0286 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0287 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0288 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0289 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0290 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0291 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0292 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0293 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0294 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0295 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0296 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0297 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0298 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0299 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0300 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0301 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0302 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0303 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0304 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0305 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0306 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0307 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0308 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0309 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0310 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0311 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0312 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0313 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0314 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0315 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0316 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0317 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0318 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0319 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0320 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0321 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0322 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0323 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0324 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0325 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0326 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0327 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0328 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0329 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0330 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0331 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0332 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0333 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0334 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
g0335 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
achapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 0/1 | 3055 | 77 | 4 | 20 | 38 | 2 | 12 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0002 | 0/0 | 3055 | 74 | 7 | 6 | 56 | 0 | 5 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0004 | 0/0 | 3055 | 21 | 4 | 9 | 0 | 4 | 4 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0006 | 0/0 | 3055 | 12 | 0 | 0 | 12 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0007 | 0/0 | 3055 | 10 | 9 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0009 | 0/0 | 3055 | 7 | 0 | 4 | 0 | 3 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0011 | 0/0 | 3055 | 6 | 4 | 2 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0014 | 0/0 | 3055 | 3 | 0 | 0 | 3 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0015 | 0/0 | 3055 | 3 | 2 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0018 | 0/0 | 3055 | 2 | 0 | 0 | 0 | 0 | 2 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0019 | 0/0 | 3055 | 2 | 0 | 2 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0020 | 0/0 | 3055 | 2 | 0 | 0 | 2 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0021 | 0/0 | 3055 | 2 | 0 | 2 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0022 | 0/0 | 3055 | 2 | 1 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0023 | 0/0 | 3055 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0024 | 0/0 | 3055 | 2 | 0 | 0 | 2 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0025 | 0/0 | 3055 | 2 | 1 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0026 | 0/0 | 3055 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0033 | 0/0 | 3055 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0034 | 0/0 | 3055 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0035 | 0/0 | 3055 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0036 | 0/0 | 3055 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0037 | 0/0 | 3055 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0038 | 0/0 | 3055 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0039 | 0/0 | 3055 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0040 | 0/0 | 3055 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0041 | 0/0 | 3055 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0042 | 0/0 | 3055 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0043 | 0/0 | 3055 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0044 | 0/0 | 3055 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0045 | 0/0 | 3055 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0046 | 0/0 | 3055 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0047 | 0/0 | 3055 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0048 | 0/0 | 3055 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0049 | 0/0 | 3055 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0050 | 0/0 | 3055 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0002c0003 | 1/0 | 3060 | 39 | 6 | 4 | 12 | 3 | 13 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0002c0012 | 0/0 | 3060 | 5 | 5 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0002c0013 | 0/0 | 3060 | 4 | 2 | 0 | 1 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0002c0029 | 0/0 | 3060 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0002c0031 | 0/0 | 3060 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0002c0055 | 0/0 | 3060 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0002c0061 | 0/0 | 3060 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0002c0062 | 0/0 | 3060 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0003c0008 | 0/0 | 3060 | 9 | 0 | 1 | 6 | 0 | 2 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0003c0010 | 0/0 | 3060 | 7 | 5 | 0 | 2 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0003c0016 | 0/0 | 3060 | 3 | 1 | 0 | 2 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0003c0032 | 0/0 | 3060 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0003c0054 | 0/0 | 3060 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0003c0063 | 0/0 | 3060 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0003c0064 | 0/0 | 3060 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0004c0005 | 0/0 | 3060 | 17 | 9 | 3 | 3 | 1 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0005c0017 | 0/0 | 3060 | 3 | 0 | 0 | 3 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0005c0065 | 0/0 | 3060 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0006c0028 | 0/0 | 3060 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0006c0056 | 0/0 | 3060 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0007c0030 | 0/0 | 3060 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0007c0060 | 0/0 | 3060 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0008c0027 | 0/0 | 3060 | 2 | 0 | 0 | 0 | 2 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0009c0058 | 0/0 | 3060 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0009c0059 | 0/0 | 3060 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0010c0066 | 0/0 | 3060 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0011c0053 | 0/0 | 3060 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0012c0052 | 0/0 | 3060 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0013c0057 | 0/0 | 3060 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0014c0051 | 0/0 | 3060 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 0/0 | 3440 | 74 | 4 | 19 | 38 | 2 | 11 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0001t0006 | 0/1 | 3440 | 2 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0001t0011 | 0/0 | 3440 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0002t0001 | 0/0 | 3440 | 2 | 0 | 0 | 1 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0002t0002 | 0/0 | 3440 | 66 | 6 | 6 | 52 | 0 | 2 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0002t0008 | 0/0 | 3440 | 2 | 0 | 0 | 0 | 0 | 2 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0002t0009 | 0/0 | 3440 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0002t0012 | 0/0 | 3440 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0002t0013 | 0/0 | 3440 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0002t0014 | 0/0 | 3440 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0004t0001 | 0/0 | 3440 | 21 | 4 | 9 | 0 | 4 | 4 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0006t0001 | 0/0 | 3440 | 11 | 0 | 0 | 11 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0006t0010 | 0/0 | 3440 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0007t0001 | 0/0 | 3440 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0007t0003 | 0/0 | 3440 | 5 | 5 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0007t0005 | 0/0 | 3440 | 4 | 4 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0009t0001 | 0/0 | 3440 | 7 | 0 | 4 | 0 | 3 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0011t0001 | 0/0 | 3440 | 6 | 4 | 2 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0014t0001 | 0/0 | 3440 | 3 | 0 | 0 | 3 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0015t0002 | 0/0 | 3440 | 3 | 2 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0018t0001 | 0/0 | 3440 | 2 | 0 | 0 | 0 | 0 | 2 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0019t0001 | 0/0 | 3440 | 2 | 0 | 2 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0020t0001 | 0/0 | 3440 | 2 | 0 | 0 | 2 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0021t0006 | 0/0 | 3440 | 2 | 0 | 2 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0022t0001 | 0/0 | 3440 | 2 | 1 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0023t0001 | 0/0 | 3440 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0024t0002 | 0/0 | 3440 | 2 | 0 | 0 | 2 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0025t0001 | 0/0 | 3440 | 2 | 1 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0026t0005 | 0/0 | 3440 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0033t0002 | 0/0 | 3440 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0034t0001 | 0/0 | 3440 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0035t0001 | 0/0 | 3440 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0036t0001 | 0/0 | 3440 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0037t0001 | 0/0 | 3440 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0038t0001 | 0/0 | 3440 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0039t0001 | 0/0 | 3440 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0040t0001 | 0/0 | 3440 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0041t0001 | 0/0 | 3440 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0042t0002 | 0/0 | 3440 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0043t0002 | 0/0 | 3440 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0044t0003 | 0/0 | 3440 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0045t0001 | 0/0 | 3440 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0046t0001 | 0/0 | 3440 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0047t0001 | 0/0 | 3440 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0048t0001 | 0/0 | 3440 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0049t0001 | 0/0 | 3440 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0001c0050t0002 | 0/0 | 3440 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0002c0003t0001 | 1/0 | 3445 | 38 | 6 | 4 | 11 | 3 | 13 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0002c0003t0015 | 0/0 | 3445 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0002c0012t0001 | 0/0 | 3445 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0002c0012t0007 | 0/0 | 3445 | 3 | 3 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0002c0013t0001 | 0/0 | 3445 | 2 | 0 | 0 | 1 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0002c0013t0003 | 0/0 | 3445 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0002c0029t0001 | 0/0 | 3445 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0002c0031t0001 | 0/0 | 3445 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0002c0055t0001 | 0/0 | 3445 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0002c0061t0001 | 0/0 | 3445 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0002c0062t0001 | 0/0 | 3445 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0003c0008t0003 | 0/0 | 3445 | 9 | 0 | 1 | 6 | 0 | 2 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0003c0010t0001 | 0/0 | 3445 | 6 | 5 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0003c0010t0002 | 0/0 | 3445 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0003c0016t0001 | 0/0 | 3445 | 2 | 1 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0003c0016t0002 | 0/0 | 3445 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0003c0032t0001 | 0/0 | 3445 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0003c0054t0003 | 0/0 | 3445 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0003c0063t0001 | 0/0 | 3445 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0003c0064t0001 | 0/0 | 3445 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0004c0005t0001 | 0/0 | 3445 | 4 | 0 | 1 | 3 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0004c0005t0004 | 0/0 | 3445 | 13 | 9 | 2 | 0 | 1 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0005c0017t0002 | 0/0 | 3445 | 3 | 0 | 0 | 3 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0005c0065t0002 | 0/0 | 3445 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0006c0028t0001 | 0/0 | 3445 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0006c0056t0001 | 0/0 | 3445 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0007c0030t0002 | 0/0 | 3445 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0007c0060t0002 | 0/0 | 3445 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0008c0027t0003 | 0/0 | 3445 | 2 | 0 | 0 | 0 | 2 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0009c0058t0001 | 0/0 | 3445 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0009c0059t0001 | 0/0 | 3445 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0010c0066t0002 | 0/0 | 3445 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0011c0053t0001 | 0/0 | 3445 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0012c0052t0001 | 0/0 | 3445 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0013c0057t0001 | 0/0 | 3445 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
a0014c0051t0001 | 0/0 | 3445 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | copy fasta | chr21 | 46093112 | 46137848 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0002 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0003 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0005 | 0/0 | 2 | 0 | 1 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0009 | 0/0 | 2 | 0 | 1 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0010 | 0/0 | 2 | 0 | 1 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0011 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0033 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0034 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0038 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0043 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0054 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0058 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0105 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0107 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0108 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0109 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0122 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0124 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0125 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0126 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0130 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0133 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0134 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0135 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0136 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0137 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0138 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0140 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0146 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0147 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0148 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0149 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0152 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0153 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0155 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0161 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0173 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0175 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0182 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0183 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0214 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0229 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0237 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0243 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0244 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0006g0132 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0006g0171 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0011g0334 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0001g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0001g0322 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0001 | 0/0 | 6 | 0 | 0 | 6 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0004 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0014 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0015 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0016 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0019 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0020 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0123 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0252 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0255 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0256 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0267 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0268 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0269 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0270 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0271 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0272 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0273 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0274 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0275 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0276 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0277 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0278 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0279 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0280 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0282 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0284 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0286 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0287 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0288 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0289 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0290 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0291 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0292 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0293 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0294 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0296 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0297 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0299 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0300 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0301 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0305 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0307 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0308 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0309 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0313 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0315 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0316 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0317 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0319 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0321 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0323 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0324 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0329 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0008g0017 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0009g0330 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0012g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0013g0314 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0014g0328 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0004t0001g0007 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0004t0001g0037 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0004t0001g0042 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0004t0001g0102 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0004t0001g0104 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0004t0001g0110 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0004t0001g0112 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0004t0001g0118 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0004t0001g0127 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0004t0001g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0004t0001g0142 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0004t0001g0143 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0004t0001g0156 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0004t0001g0157 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0004t0001g0162 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0004t0001g0168 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0004t0001g0174 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0004t0001g0186 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0004t0001g0248 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0004t0001g0261 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0006t0001g0002 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0006t0001g0151 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0006t0001g0165 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0006t0001g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0006t0001g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0006t0001g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0006t0001g0188 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0006t0001g0242 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0006t0001g0303 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0006t0001g0304 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0006t0001g0306 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0006t0010g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0007t0001g0302 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0007t0003g0246 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0007t0003g0247 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0007t0003g0263 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0007t0003g0264 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0007t0003g0265 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0007t0005g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0007t0005g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0007t0005g0061 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0007t0005g0066 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0009t0001g0021 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0009t0001g0253 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0009t0001g0259 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0009t0001g0262 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0009t0001g0331 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0009t0001g0335 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0011t0001g0106 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0011t0001g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0011t0001g0115 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0011t0001g0120 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0011t0001g0121 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0011t0001g0177 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0014t0001g0002 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0014t0001g0003 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0014t0001g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0015t0002g0260 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0015t0002g0326 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0015t0002g0327 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0018t0001g0169 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0018t0001g0187 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0019t0001g0332 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0019t0001g0333 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0020t0001g0002 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0020t0001g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0021t0006g0145 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0021t0006g0176 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0022t0001g0236 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0022t0001g0254 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0023t0001g0250 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0023t0001g0251 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0024t0002g0318 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0024t0002g0320 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0025t0001g0232 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0025t0001g0235 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0026t0005g0233 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0026t0005g0234 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0033t0002g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0034t0001g0178 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0035t0001g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0036t0001g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0037t0001g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0038t0001g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0039t0001g0281 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0040t0001g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0041t0001g0128 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0042t0002g0295 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0043t0002g0285 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0044t0003g0197 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0045t0001g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0046t0001g0249 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0047t0001g0245 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0048t0001g0144 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0049t0001g0158 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0050t0002g0298 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0006 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0022 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0024 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0025 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0053 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0055 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0056 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0057 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0064 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0065 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0072 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0076 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0077 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0078 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0079 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0080 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0082 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0085 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0086 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0222 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0223 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0224 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0227 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0228 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0266 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0015g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0012t0001g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0012t0001g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0012t0007g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0012t0007g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0012t0007g0095 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0013t0001g0217 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0013t0001g0219 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0013t0003g0067 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0013t0003g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0029t0001g0062 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0029t0001g0089 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0031t0001g0218 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0031t0001g0220 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0055t0001g0048 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0061t0001g0063 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0062t0001g0226 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0003c0008t0003g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0003c0008t0003g0045 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0003c0008t0003g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0003c0008t0003g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0003c0008t0003g0192 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0003c0008t0003g0193 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0003c0008t0003g0199 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0003c0008t0003g0201 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0003c0008t0003g0202 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0003c0010t0001g0189 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0003c0010t0001g0190 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0003c0010t0001g0196 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0003c0010t0001g0207 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0003c0010t0001g0209 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0003c0010t0001g0310 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0003c0010t0002g0325 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0003c0016t0001g0200 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0003c0016t0001g0231 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0003c0016t0002g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0003c0032t0001g0240 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0003c0032t0001g0241 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0003c0054t0003g0198 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0003c0063t0001g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0003c0064t0001g0195 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0004c0005t0001g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0004c0005t0001g0204 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0004c0005t0001g0208 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0004c0005t0001g0210 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0004c0005t0004g0047 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0004c0005t0004g0194 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0004c0005t0004g0203 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0004c0005t0004g0205 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0004c0005t0004g0206 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0004c0005t0004g0211 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0004c0005t0004g0212 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0004c0005t0004g0213 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0004c0005t0004g0215 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0004c0005t0004g0216 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0004c0005t0004g0230 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0004c0005t0004g0238 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0004c0005t0004g0239 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0005c0017t0002g0257 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0005c0017t0002g0258 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0005c0017t0002g0312 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0005c0065t0002g0311 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0006c0028t0001g0096 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0006c0028t0001g0098 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0006c0056t0001g0097 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0007c0030t0002g0092 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0007c0030t0002g0093 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0007c0060t0002g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0008c0027t0003g0013 | 0/0 | 2 | 0 | 0 | 0 | 2 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0009c0058t0001g0090 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0009c0059t0001g0091 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0010c0066t0002g0283 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0011c0053t0001g0084 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0012c0052t0001g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0013c0057t0001g0221 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0014c0051t0001g0225 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00099 | hp1 | a0002 | c0003 | t0001 | g0080 | EUR | GBR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG00099 | hp2 | a0002 | c0003 | t0001 | g0072 | EUR | GBR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG00140 | hp1 | a0001 | c0001 | t0001 | g0105 | EUR | GBR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG00140 | hp2 | a0001 | c0009 | t0001 | g0262 | EUR | GBR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG00280 | hp1 | a0001 | c0001 | t0001 | g0126 | EUR | FIN | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG00280 | hp2 | a0001 | c0004 | t0001 | g0127 | EUR | FIN | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG00323 | hp1 | a0001 | c0004 | t0001 | g0142 | EUR | FIN | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG00323 | hp2 | a0002 | c0003 | t0001 | g0079 | EUR | FIN | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG00423 | hp1 | a0001 | c0002 | t0002 | g0269 | EAS | CHS | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG00423 | hp2 | a0003 | c0008 | t0003 | g0201 | EAS | CHS | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG00438 | hp1 | a0002 | c0003 | t0001 | g0027 | EAS | CHS | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG00438 | hp2 | a0004 | c0005 | t0001 | g0099 | EAS | CHS | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG00544 | hp1 | a0002 | c0003 | t0001 | g0031 | EAS | CHS | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG00544 | hp2 | a0001 | c0002 | t0002 | g0001 | EAS | CHS | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG00558 | hp1 | a0001 | c0001 | t0001 | g0010 | EAS | CHS | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG00558 | hp2 | a0001 | c0001 | t0001 | g0175 | EAS | CHS | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG00597 | hp1 | a0003 | c0008 | t0003 | g0191 | EAS | CHS | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG00597 | hp2 | a0003 | c0016 | t0002 | g0023 | EAS | CHS | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG00609 | hp1 | a0001 | c0001 | t0001 | g0149 | EAS | CHS | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG00609 | hp2 | a0001 | c0001 | t0001 | g0159 | EAS | CHS | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG00621 | hp1 | a0002 | c0003 | t0001 | g0083 | EAS | CHS | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG00621 | hp2 | a0002 | c0003 | t0015 | g0088 | EAS | CHS | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG00639 | hp1 | a0004 | c0005 | t0001 | g0208 | AMR | PUR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG00639 | hp2 | a0001 | c0007 | t0001 | g0302 | AMR | PUR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG00673 | hp1 | a0001 | c0002 | t0002 | g0308 | EAS | CHS | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG00673 | hp2 | a0005 | c0017 | t0002 | g0257 | EAS | CHS | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG00733 | hp1 | a0002 | c0003 | t0001 | g0006 | AMR | PUR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG00733 | hp2 | a0001 | c0001 | t0001 | g0146 | AMR | PUR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG00735 | hp1 | a0001 | c0002 | t0002 | g0291 | AMR | PUR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG00735 | hp2 | a0001 | c0009 | t0001 | g0021 | AMR | PUR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG00738 | hp1 | a0001 | c0009 | t0001 | g0253 | AMR | PUR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG00738 | hp2 | a0001 | c0001 | t0001 | g0183 | AMR | PUR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG00741 | hp1 | a0001 | c0002 | t0002 | g0123 | AMR | PUR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG00741 | hp2 | a0001 | c0004 | t0001 | g0118 | AMR | PUR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01069 | hp1 | a0001 | c0021 | t0006 | g0176 | AMR | PUR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01069 | hp2 | a0001 | c0001 | t0001 | g0011 | AMR | PUR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01070 | hp1 | a0001 | c0001 | t0001 | g0009 | AMR | PUR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01070 | hp2 | a0001 | c0004 | t0001 | g0042 | AMR | PUR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01071 | hp1 | a0001 | c0004 | t0001 | g0156 | AMR | PUR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01071 | hp2 | a0001 | c0021 | t0006 | g0145 | AMR | PUR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01074 | hp1 | a0004 | c0005 | t0004 | g0212 | AMR | PUR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01074 | hp2 | a0001 | c0002 | t0002 | g0292 | AMR | PUR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01099 | hp1 | a0001 | c0001 | t0001 | g0038 | AMR | PUR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01099 | hp2 | a0001 | c0009 | t0001 | g0259 | AMR | PUR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01106 | hp1 | a0001 | c0009 | t0001 | g0021 | AMR | PUR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01106 | hp2 | a0001 | c0001 | t0001 | g0043 | AMR | PUR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01109 | hp1 | a0004 | c0005 | t0004 | g0194 | AMR | PUR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01109 | hp2 | a0002 | c0003 | t0001 | g0006 | AMR | PUR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01168 | hp1 | a0001 | c0002 | t0002 | g0274 | AMR | PUR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01168 | hp2 | a0001 | c0004 | t0001 | g0162 | AMR | PUR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01169 | hp1 | a0001 | c0002 | t0002 | g0267 | AMR | PUR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01169 | hp2 | a0001 | c0001 | t0001 | g0182 | AMR | PUR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01175 | hp1 | a0001 | c0001 | t0001 | g0147 | AMR | PUR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01175 | hp2 | a0001 | c0001 | t0011 | g0334 | AMR | PUR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01243 | hp1 | a0003 | c0054 | t0003 | g0198 | AMR | PUR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01243 | hp2 | a0001 | c0022 | t0001 | g0254 | AMR | PUR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01255 | hp1 | a0001 | c0004 | t0001 | g0168 | AMR | CLM | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01255 | hp2 | a0002 | c0003 | t0001 | g0086 | AMR | CLM | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01256 | hp1 | a0001 | c0001 | t0001 | g0134 | AMR | CLM | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01256 | hp2 | a0001 | c0004 | t0001 | g0007 | AMR | CLM | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01257 | hp1 | a0001 | c0011 | t0001 | g0115 | AMR | CLM | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01257 | hp2 | a0003 | c0064 | t0001 | g0195 | AMR | CLM | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01258 | hp1 | a0001 | c0004 | t0001 | g0112 | AMR | CLM | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01258 | hp2 | a0001 | c0011 | t0001 | g0106 | AMR | CLM | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01261 | hp1 | a0001 | c0001 | t0001 | g0011 | AMR | CLM | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01261 | hp2 | a0001 | c0025 | t0001 | g0235 | AMR | CLM | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01346 | hp1 | a0001 | c0019 | t0001 | g0333 | AMR | CLM | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01346 | hp2 | a0001 | c0004 | t0001 | g0261 | AMR | CLM | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01433 | hp1 | a0002 | c0003 | t0001 | g0224 | AMR | CLM | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01433 | hp2 | a0001 | c0001 | t0001 | g0034 | AMR | CLM | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01496 | hp1 | a0001 | c0041 | t0001 | g0128 | AMR | CLM | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01496 | hp2 | a0001 | c0001 | t0001 | g0003 | AMR | CLM | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01515 | hp1 | a0001 | c0009 | t0001 | g0331 | EUR | IBS | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01515 | hp2 | a0001 | c0004 | t0001 | g0157 | EUR | IBS | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01516 | hp1 | a0008 | c0027 | t0003 | g0013 | EUR | IBS | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01516 | hp2 | a0001 | c0048 | t0001 | g0144 | EUR | IBS | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01517 | hp1 | a0001 | c0009 | t0001 | g0335 | EUR | IBS | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01517 | hp2 | a0008 | c0027 | t0003 | g0013 | EUR | IBS | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01884 | hp1 | a0004 | c0005 | t0004 | g0238 | AFR | ACB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01884 | hp2 | a0001 | c0015 | t0002 | g0327 | AFR | ACB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01891 | hp1 | a0001 | c0026 | t0005 | g0234 | AFR | ACB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01891 | hp2 | a0001 | c0011 | t0001 | g0111 | AFR | ACB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01928 | hp1 | a0001 | c0034 | t0001 | g0178 | AMR | PEL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01928 | hp2 | a0001 | c0001 | t0001 | g0010 | AMR | PEL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01952 | hp1 | a0001 | c0001 | t0001 | g0003 | AMR | PEL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01952 | hp2 | a0001 | c0002 | t0002 | g0323 | AMR | PEL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01975 | hp1 | a0001 | c0001 | t0001 | g0138 | AMR | PEL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01975 | hp2 | a0001 | c0042 | t0002 | g0295 | AMR | PEL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01978 | hp1 | a0001 | c0015 | t0002 | g0260 | AMR | PEL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01978 | hp2 | a0001 | c0001 | t0001 | g0130 | AMR | PEL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01981 | hp1 | a0001 | c0001 | t0001 | g0005 | AMR | PEL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01981 | hp2 | a0003 | c0008 | t0003 | g0192 | AMR | PEL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02015 | hp1 | a0001 | c0001 | t0001 | g0140 | EAS | KHV | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02015 | hp2 | a0001 | c0002 | t0014 | g0328 | EAS | KHV | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02040 | hp1 | a0002 | c0003 | t0001 | g0073 | EAS | KHV | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02040 | hp2 | a0001 | c0002 | t0002 | g0014 | EAS | KHV | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02055 | hp1 | a0001 | c0001 | t0001 | g0036 | AFR | ACB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02055 | hp2 | a0002 | c0031 | t0001 | g0218 | AFR | ACB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02056 | hp1 | a0001 | c0001 | t0001 | g0114 | EAS | KHV | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02056 | hp2 | a0001 | c0036 | t0001 | g0035 | EAS | KHV | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02071 | hp1 | a0001 | c0002 | t0002 | g0299 | EAS | KHV | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02071 | hp2 | a0002 | c0003 | t0001 | g0028 | EAS | KHV | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02074 | hp1 | a0001 | c0002 | t0002 | g0001 | EAS | KHV | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02074 | hp2 | a0001 | c0002 | t0002 | g0255 | EAS | KHV | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02080 | hp1 | a0001 | c0002 | t0002 | g0275 | EAS | KHV | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02080 | hp2 | a0001 | c0001 | t0001 | g0184 | EAS | KHV | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02083 | hp1 | a0001 | c0006 | t0010 | g0164 | EAS | KHV | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02083 | hp2 | a0002 | c0013 | t0001 | g0219 | EAS | KHV | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02132 | hp1 | a0001 | c0002 | t0002 | g0297 | EAS | KHV | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02132 | hp2 | a0002 | c0003 | t0001 | g0081 | EAS | KHV | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02135 | hp1 | a0002 | c0003 | t0001 | g0087 | EAS | KHV | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02135 | hp2 | a0001 | c0001 | t0001 | g0040 | EAS | KHV | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02145 | hp1 | a0002 | c0012 | t0001 | g0026 | AFR | ACB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02145 | hp2 | a0003 | c0010 | t0001 | g0189 | AFR | ACB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02165 | hp1 | a0001 | c0002 | t0002 | g0001 | EAS | CDX | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02165 | hp2 | a0001 | c0001 | t0001 | g0008 | EAS | CDX | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02257 | hp1 | a0002 | c0012 | t0007 | g0029 | AFR | ACB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02257 | hp2 | a0002 | c0013 | t0003 | g0067 | AFR | ACB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02258 | hp1 | a0004 | c0005 | t0004 | g0239 | AFR | ACB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02258 | hp2 | a0001 | c0015 | t0002 | g0326 | AFR | ACB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02273 | hp1 | a0001 | c0001 | t0001 | g0152 | AMR | PEL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02273 | hp2 | a0001 | c0001 | t0001 | g0148 | AMR | PEL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02280 | hp1 | a0001 | c0022 | t0001 | g0236 | AFR | ACB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02280 | hp2 | a0002 | c0012 | t0001 | g0030 | AFR | ACB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02451 | hp1 | a0004 | c0005 | t0004 | g0205 | AFR | ACB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02451 | hp2 | a0002 | c0029 | t0001 | g0089 | AFR | ACB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02602 | hp1 | a0001 | c0004 | t0001 | g0186 | SAS | PJL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02602 | hp2 | a0004 | c0005 | t0004 | g0047 | SAS | PJL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02615 | hp1 | a0003 | c0010 | t0001 | g0190 | AFR | GWD | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02615 | hp2 | a0001 | c0007 | t0005 | g0060 | AFR | GWD | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02622 | hp1 | a0001 | c0001 | t0001 | g0122 | AFR | GWD | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02622 | hp2 | a0002 | c0012 | t0007 | g0095 | AFR | GWD | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02630 | hp1 | a0001 | c0023 | t0001 | g0250 | AFR | GWD | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02630 | hp2 | a0001 | c0004 | t0001 | g0102 | AFR | GWD | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02647 | hp1 | a0001 | c0001 | t0001 | g0237 | AFR | GWD | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02647 | hp2 | a0006 | c0056 | t0001 | g0097 | AFR | GWD | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02683 | hp1 | a0001 | c0001 | t0001 | g0133 | SAS | PJL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02683 | hp2 | a0001 | c0001 | t0006 | g0132 | SAS | PJL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02698 | hp1 | a0002 | c0003 | t0001 | g0085 | SAS | PJL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02698 | hp2 | a0001 | c0049 | t0001 | g0158 | SAS | PJL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02717 | hp1 | a0007 | c0030 | t0002 | g0093 | AFR | GWD | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02717 | hp2 | a0003 | c0010 | t0001 | g0196 | AFR | GWD | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02723 | hp1 | a0001 | c0002 | t0002 | g0286 | AFR | GWD | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02723 | hp2 | a0003 | c0010 | t0001 | g0207 | AFR | GWD | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02809 | hp1 | a0002 | c0062 | t0001 | g0226 | AFR | GWD | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02809 | hp2 | a0001 | c0004 | t0001 | g0248 | AFR | GWD | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02818 | hp1 | a0003 | c0032 | t0001 | g0240 | AFR | GWD | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02818 | hp2 | a0002 | c0003 | t0001 | g0227 | AFR | GWD | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02886 | hp1 | a0004 | c0005 | t0004 | g0203 | AFR | GWD | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02886 | hp2 | a0001 | c0007 | t0003 | g0264 | AFR | GWD | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02897 | hp1 | a0001 | c0007 | t0003 | g0263 | AFR | GWD | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02897 | hp2 | a0001 | c0007 | t0003 | g0246 | AFR | GWD | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02922 | hp1 | a0007 | c0060 | t0002 | g0070 | AFR | ESN | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02922 | hp2 | a0001 | c0002 | t0002 | g0277 | AFR | ESN | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02965 | hp1 | a0001 | c0035 | t0001 | g0052 | AFR | ESN | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02965 | hp2 | a0002 | c0013 | t0003 | g0069 | AFR | ESN | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02970 | hp1 | a0002 | c0031 | t0001 | g0220 | AFR | ESN | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02970 | hp2 | a0001 | c0011 | t0001 | g0177 | AFR | ESN | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02976 | hp1 | a0001 | c0047 | t0001 | g0245 | AFR | ESN | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02976 | hp2 | a0002 | c0003 | t0001 | g0222 | AFR | ESN | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03017 | hp1 | a0002 | c0003 | t0001 | g0056 | SAS | PJL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03017 | hp2 | a0001 | c0004 | t0001 | g0143 | SAS | PJL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03098 | hp1 | a0001 | c0007 | t0005 | g0066 | AFR | MSL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03098 | hp2 | a0002 | c0003 | t0001 | g0223 | AFR | MSL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03139 | hp1 | a0001 | c0002 | t0002 | g0309 | AFR | ESN | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03139 | hp2 | a0001 | c0002 | t0002 | g0278 | AFR | ESN | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03195 | hp1 | a0002 | c0003 | t0001 | g0228 | AFR | ESN | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03195 | hp2 | a0004 | c0005 | t0004 | g0230 | AFR | ESN | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03209 | hp1 | a0001 | c0045 | t0001 | g0051 | AFR | MSL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03209 | hp2 | a0001 | c0011 | t0001 | g0121 | AFR | MSL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03225 | hp1 | a0001 | c0011 | t0001 | g0120 | AFR | MSL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03225 | hp2 | a0004 | c0005 | t0004 | g0216 | AFR | MSL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03239 | hp1 | a0002 | c0003 | t0001 | g0082 | SAS | PJL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03239 | hp2 | a0003 | c0008 | t0003 | g0045 | SAS | PJL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03453 | hp1 | a0001 | c0026 | t0005 | g0233 | AFR | MSL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03453 | hp2 | a0003 | c0032 | t0001 | g0241 | AFR | MSL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03486 | hp1 | a0001 | c0002 | t0002 | g0317 | AFR | MSL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03486 | hp2 | a0004 | c0005 | t0004 | g0206 | AFR | MSL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03490 | hp1 | a0002 | c0003 | t0001 | g0077 | SAS | PJL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03490 | hp2 | a0001 | c0018 | t0001 | g0187 | SAS | PJL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03491 | hp1 | a0001 | c0002 | t0008 | g0017 | SAS | PJL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03491 | hp2 | a0002 | c0003 | t0001 | g0057 | SAS | PJL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03492 | hp1 | a0001 | c0018 | t0001 | g0169 | SAS | PJL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03492 | hp2 | a0001 | c0002 | t0008 | g0017 | SAS | PJL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03516 | hp1 | a0003 | c0063 | t0001 | g0046 | AFR | ESN | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03516 | hp2 | a0001 | c0001 | t0001 | g0107 | AFR | ESN | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03540 | hp1 | a0001 | c0002 | t0009 | g0330 | AFR | GWD | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03540 | hp2 | a0006 | c0028 | t0001 | g0098 | AFR | GWD | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03579 | hp1 | a0001 | c0007 | t0003 | g0265 | AFR | MSL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03579 | hp2 | a0001 | c0004 | t0001 | g0174 | AFR | MSL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03669 | hp1 | a0002 | c0003 | t0001 | g0064 | SAS | PJL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03669 | hp2 | a0001 | c0002 | t0002 | g0296 | SAS | PJL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03688 | hp1 | a0001 | c0001 | t0001 | g0173 | SAS | STU | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03688 | hp2 | a0001 | c0004 | t0001 | g0110 | SAS | STU | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03704 | hp1 | a0002 | c0003 | t0001 | g0078 | SAS | PJL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03704 | hp2 | a0001 | c0004 | t0001 | g0037 | SAS | PJL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03710 | hp1 | a0002 | c0055 | t0001 | g0048 | SAS | PJL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03710 | hp2 | a0001 | c0001 | t0001 | g0229 | SAS | PJL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03831 | hp1 | a0002 | c0003 | t0001 | g0022 | SAS | BEB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03831 | hp2 | a0002 | c0003 | t0001 | g0024 | SAS | BEB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03834 | hp1 | a0001 | c0001 | t0001 | g0058 | SAS | BEB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03834 | hp2 | a0001 | c0001 | t0001 | g0135 | SAS | BEB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03927 | hp1 | a0001 | c0001 | t0001 | g0033 | SAS | BEB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03927 | hp2 | a0001 | c0050 | t0002 | g0298 | SAS | BEB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03942 | hp1 | a0002 | c0003 | t0001 | g0055 | SAS | BEB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03942 | hp2 | a0001 | c0001 | t0001 | g0054 | SAS | BEB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG04115 | hp1 | a0001 | c0002 | t0001 | g0322 | SAS | STU | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG04115 | hp2 | a0013 | c0057 | t0001 | g0221 | SAS | STU | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG04184 | hp1 | a0002 | c0003 | t0001 | g0025 | SAS | BEB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG04184 | hp2 | a0001 | c0002 | t0002 | g0290 | SAS | BEB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG04199 | hp1 | a0001 | c0001 | t0001 | g0124 | SAS | STU | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG04199 | hp2 | a0003 | c0008 | t0003 | g0199 | SAS | STU | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG04204 | hp1 | a0002 | c0013 | t0001 | g0217 | SAS | STU | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG04204 | hp2 | a0002 | c0003 | t0001 | g0065 | SAS | STU | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG04228 | hp1 | a0001 | c0001 | t0001 | g0125 | SAS | STU | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG04228 | hp2 | a0002 | c0003 | t0001 | g0053 | SAS | STU | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18522 | hp1 | a0004 | c0005 | t0004 | g0213 | AFR | YRI | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18522 | hp2 | a0009 | c0058 | t0001 | g0090 | AFR | YRI | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18612 | hp1 | a0001 | c0001 | t0001 | g0137 | EAS | CHB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18612 | hp2 | a0001 | c0001 | t0001 | g0139 | EAS | CHB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18747 | hp1 | a0001 | c0006 | t0001 | g0165 | EAS | CHB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18747 | hp2 | a0001 | c0033 | t0002 | g0018 | EAS | CHB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18906 | hp1 | a0002 | c0029 | t0001 | g0062 | AFR | YRI | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18906 | hp2 | a0001 | c0007 | t0005 | g0061 | AFR | YRI | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18941 | hp1 | a0001 | c0001 | t0001 | g0181 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18941 | hp2 | a0003 | c0008 | t0003 | g0202 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18942 | hp1 | a0001 | c0040 | t0001 | g0008 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18942 | hp2 | a0001 | c0002 | t0012 | g0018 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18943 | hp1 | a0001 | c0002 | t0002 | g0319 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18943 | hp2 | a0001 | c0001 | t0001 | g0100 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18944 | hp1 | a0003 | c0008 | t0003 | g0044 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18944 | hp2 | a0001 | c0006 | t0001 | g0002 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18945 | hp1 | a0001 | c0001 | t0001 | g0170 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18945 | hp2 | a0001 | c0002 | t0002 | g0321 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18947 | hp1 | a0001 | c0002 | t0002 | g0016 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18947 | hp2 | a0001 | c0002 | t0001 | g0039 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18948 | hp1 | a0001 | c0002 | t0013 | g0314 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18948 | hp2 | a0001 | c0001 | t0001 | g0109 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18949 | hp1 | a0003 | c0008 | t0003 | g0050 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18949 | hp2 | a0001 | c0002 | t0002 | g0272 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18950 | hp1 | a0001 | c0001 | t0001 | g0185 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18950 | hp2 | a0001 | c0002 | t0002 | g0280 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18951 | hp1 | a0001 | c0002 | t0002 | g0293 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18951 | hp2 | a0001 | c0001 | t0001 | g0153 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18952 | hp1 | a0001 | c0001 | t0001 | g0244 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18952 | hp2 | a0001 | c0002 | t0002 | g0019 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18954 | hp1 | a0001 | c0002 | t0002 | g0016 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18954 | hp2 | a0001 | c0006 | t0001 | g0188 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18964 | hp1 | a0001 | c0006 | t0001 | g0166 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18964 | hp2 | a0001 | c0002 | t0002 | g0014 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18965 | hp1 | a0001 | c0001 | t0001 | g0103 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18965 | hp2 | a0001 | c0002 | t0002 | g0316 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18966 | hp1 | a0001 | c0001 | t0001 | g0041 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18966 | hp2 | a0001 | c0002 | t0002 | g0019 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18969 | hp1 | a0001 | c0001 | t0001 | g0009 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18969 | hp2 | a0004 | c0005 | t0001 | g0210 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18971 | hp1 | a0001 | c0002 | t0002 | g0252 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18971 | hp2 | a0001 | c0002 | t0002 | g0015 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18975 | hp1 | a0001 | c0002 | t0002 | g0301 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18975 | hp2 | a0001 | c0002 | t0002 | g0256 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18977 | hp1 | a0004 | c0005 | t0001 | g0204 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18977 | hp2 | a0001 | c0001 | t0001 | g0108 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18979 | hp1 | a0001 | c0002 | t0002 | g0329 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18979 | hp2 | a0001 | c0001 | t0001 | g0172 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18980 | hp1 | a0005 | c0065 | t0002 | g0311 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18980 | hp2 | a0001 | c0002 | t0002 | g0288 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18981 | hp1 | a0001 | c0006 | t0001 | g0242 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18981 | hp2 | a0001 | c0002 | t0002 | g0273 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18982 | hp1 | a0001 | c0006 | t0001 | g0180 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18982 | hp2 | a0005 | c0017 | t0002 | g0312 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18983 | hp1 | a0001 | c0006 | t0001 | g0151 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18983 | hp2 | a0001 | c0001 | t0001 | g0154 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18984 | hp1 | a0001 | c0006 | t0001 | g0303 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18984 | hp2 | a0001 | c0001 | t0001 | g0136 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18985 | hp1 | a0002 | c0003 | t0001 | g0094 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18985 | hp2 | a0001 | c0002 | t0002 | g0287 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18986 | hp1 | a0003 | c0010 | t0001 | g0310 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18986 | hp2 | a0001 | c0002 | t0002 | g0279 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18988 | hp1 | a0001 | c0001 | t0001 | g0179 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18988 | hp2 | a0001 | c0002 | t0002 | g0276 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18989 | hp1 | a0010 | c0066 | t0002 | g0283 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18989 | hp2 | a0001 | c0002 | t0002 | g0001 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18990 | hp1 | a0001 | c0006 | t0001 | g0306 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18990 | hp2 | a0001 | c0001 | t0001 | g0141 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18994 | hp1 | a0001 | c0001 | t0001 | g0243 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18994 | hp2 | a0003 | c0008 | t0003 | g0193 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18998 | hp1 | a0001 | c0002 | t0002 | g0004 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18998 | hp2 | a0001 | c0014 | t0001 | g0012 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19000 | hp1 | a0001 | c0001 | t0001 | g0119 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19000 | hp2 | a0003 | c0010 | t0002 | g0325 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19003 | hp1 | a0001 | c0001 | t0001 | g0049 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19003 | hp2 | a0001 | c0002 | t0002 | g0294 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19005 | hp1 | a0001 | c0002 | t0002 | g0004 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19005 | hp2 | a0001 | c0014 | t0001 | g0003 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19009 | hp1 | a0001 | c0006 | t0001 | g0304 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19009 | hp2 | a0001 | c0014 | t0001 | g0002 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19010 | hp1 | a0001 | c0002 | t0002 | g0315 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19010 | hp2 | a0001 | c0002 | t0002 | g0284 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19012 | hp1 | a0001 | c0002 | t0002 | g0015 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19012 | hp2 | a0001 | c0002 | t0002 | g0305 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19030 | hp1 | a0002 | c0003 | t0001 | g0071 | AFR | LWK | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19030 | hp2 | a0001 | c0046 | t0001 | g0249 | AFR | LWK | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19043 | hp1 | a0001 | c0023 | t0001 | g0251 | AFR | LWK | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19043 | hp2 | a0014 | c0051 | t0001 | g0225 | AFR | LWK | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19054 | hp1 | a0001 | c0038 | t0001 | g0129 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19054 | hp2 | a0001 | c0002 | t0002 | g0004 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19055 | hp1 | a0001 | c0001 | t0001 | g0161 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19055 | hp2 | a0001 | c0024 | t0002 | g0320 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19056 | hp1 | a0001 | c0002 | t0002 | g0001 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19056 | hp2 | a0001 | c0002 | t0002 | g0300 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19057 | hp1 | a0001 | c0002 | t0002 | g0289 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19057 | hp2 | a0001 | c0020 | t0001 | g0002 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19060 | hp1 | a0001 | c0001 | t0001 | g0116 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19060 | hp2 | a0001 | c0001 | t0001 | g0113 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19065 | hp1 | a0001 | c0002 | t0002 | g0020 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19065 | hp2 | a0002 | c0003 | t0001 | g0076 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19066 | hp1 | a0001 | c0001 | t0001 | g0101 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19066 | hp2 | a0001 | c0002 | t0002 | g0001 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19068 | hp1 | a0001 | c0043 | t0002 | g0285 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19068 | hp2 | a0003 | c0016 | t0001 | g0200 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19070 | hp1 | a0002 | c0003 | t0001 | g0075 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19070 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19079 | hp1 | a0001 | c0037 | t0001 | g0012 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19079 | hp2 | a0001 | c0002 | t0002 | g0020 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19080 | hp1 | a0002 | c0003 | t0001 | g0074 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19080 | hp2 | a0001 | c0020 | t0001 | g0117 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19083 | hp1 | a0001 | c0002 | t0002 | g0313 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19083 | hp2 | a0012 | c0052 | t0001 | g0160 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19087 | hp1 | a0001 | c0006 | t0001 | g0167 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19087 | hp2 | a0001 | c0002 | t0002 | g0271 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19088 | hp1 | a0001 | c0001 | t0001 | g0150 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19088 | hp2 | a0001 | c0024 | t0002 | g0318 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19089 | hp1 | a0001 | c0002 | t0002 | g0268 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19089 | hp2 | a0001 | c0039 | t0001 | g0281 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19090 | hp1 | a0001 | c0001 | t0001 | g0005 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19090 | hp2 | a0001 | c0002 | t0002 | g0307 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19091 | hp1 | a0001 | c0001 | t0001 | g0163 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19091 | hp2 | a0001 | c0002 | t0002 | g0282 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19240 | hp1 | a0003 | c0010 | t0001 | g0209 | AFR | YRI | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19240 | hp2 | a0001 | c0002 | t0002 | g0324 | AFR | YRI | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA20129 | hp1 | a0001 | c0004 | t0001 | g0131 | AFR | ASW | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA20129 | hp2 | a0009 | c0059 | t0001 | g0091 | AFR | ASW | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA20752 | hp1 | a0001 | c0044 | t0003 | g0197 | EUR | TSI | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA20752 | hp2 | a0001 | c0004 | t0001 | g0104 | EUR | TSI | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA20805 | hp1 | a0011 | c0053 | t0001 | g0084 | EUR | TSI | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA20805 | hp2 | a0004 | c0005 | t0004 | g0215 | EUR | TSI | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA20905 | hp1 | a0001 | c0001 | t0001 | g0155 | SAS | GIH | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA20905 | hp2 | a0001 | c0001 | t0001 | g0214 | SAS | GIH | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01123 | hp1 | a0001 | c0019 | t0001 | g0332 | AMR | CLM | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01123 | hp2 | a0001 | c0004 | t0001 | g0007 | AMR | CLM | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02109 | hp1 | a0006 | c0028 | t0001 | g0096 | AFR | ACB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02109 | hp2 | a0002 | c0061 | t0001 | g0063 | AFR | ACB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02486 | hp1 | a0004 | c0005 | t0004 | g0211 | AFR | ACB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02486 | hp2 | a0002 | c0012 | t0007 | g0032 | AFR | ACB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02559 | hp1 | a0001 | c0007 | t0005 | g0059 | AFR | ACB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02559 | hp2 | a0001 | c0007 | t0003 | g0247 | AFR | ACB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG06807 | hp1 | a0007 | c0030 | t0002 | g0092 | AFR | USA | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG06807 | hp2 | a0003 | c0016 | t0001 | g0231 | AFR | USA | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18955 | hp1 | a0005 | c0017 | t0002 | g0258 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18955 | hp2 | a0001 | c0002 | t0002 | g0270 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA21309 | hp1 | a0002 | c0003 | t0001 | g0068 | AFR | LWK | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA21309 | hp2 | a0001 | c0025 | t0001 | g0232 | AFR | LWK | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
homoSapiens_chm13v2 | hp1 | a0001 | c0001 | t0006 | g0171 | REF | REF | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
homoSapiens_grch38 | hp1 | a0002 | c0003 | t0001 | g0266 | REF | REF | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr21:46111519
|
C | G | 1 | a0010 | 1 | NA18989.hp1 | missense_variant | MODERATE | c.43C>G | p.Leu15Val | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 2/28 | 132/3445 | 43/3060 | 15/1019 | chr21 | 46111519 | ||
chr21:46111520
|
T | G | 1 | a0010 | 1 | NA18989.hp1 | missense_variant | MODERATE | c.44T>G | p.Leu15Arg | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 2/28 | 133/3445 | 44/3060 | 15/1019 | chr21 | 46111520 | ||
chr21:46112362
|
G | A | 1 | a0014 | 1 | NA19043.hp2 | missense_variant | MODERATE | c.499G>A | p.Gly167Ser | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 3/28 | 588/3445 | 499/3060 | 167/1019 | chr21 | 46112362 | ||
chr21:46112442
|
C | G | 1 | a0001 | 1 | HG03927.hp2 | missense_variant | MODERATE | c.579C>G | p.Asn193Lys | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 3/28 | 668/3445 | 579/3060 | 193/1019 | chr21 | 46112442 | ||
chr21:46112468
|
G | A | 1 | a0001 | 1 | HG01928.hp1 | missense_variant | MODERATE | c.605G>A | p.Arg202Gln | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 3/28 | 694/3445 | 605/3060 | 202/1019 | chr21 | 46112468 | ||
chr21:46112542
|
G | A | 1 | a0001 | 6 | HG01257.hp1 HG01258.hp2 HG01891.hp2 others(3): Show |
missense_variant | MODERATE | c.679G>A | p.Asp227Asn | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 3/28 | 768/3445 | 679/3060 | 227/1019 | chr21 | 46112542 | ||
chr21:46115902
|
G | A | 1 | a0001 | 1 | HG02965.hp1 | missense_variant | MODERATE | c.832G>A | p.Glu278Lys | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 6/28 | 921/3445 | 832/3060 | 278/1019 | chr21 | 46115902 | ||
chr21:46117890
|
C | G | 1 | a0001 | 1 | HG01516.hp2 | missense_variant | MODERATE | c.1070C>G | p.Pro357Arg | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 12/28 | 1159/3445 | 1070/3060 | 357/1019 | chr21 | 46117890 | ||
chr21:46119046
|
G | A | 9 | a0001a0003a0004others(6): Show | 284 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(281): Show |
missense_variant | MODERATE | c.1196G>A | p.Ser399Asn | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 14/28 | 1285/3445 | 1196/3060 | 399/1019 | chr21 | 46119046 | ||
chr21:46121563
|
G | A | 1 | a0006 | 3 | HG02109.hp1 HG02647.hp2 HG03540.hp2 |
missense_variant | MODERATE | c.1466G>A | p.Arg489Gln | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 18/28 | 1555/3445 | 1466/3060 | 489/1019 | chr21 | 46121563 | ||
chr21:46124685
|
G | A | 1 | a0001 | 1 | HG02056.hp2 | missense_variant | MODERATE | c.1706G>A | p.Arg569Gln | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 22/28 | 1795/3445 | 1706/3060 | 569/1019 | chr21 | 46124685 | ||
chr21:46125275
|
G | A | 1 | a0001 | 2 | HG03490.hp2 HG03492.hp1 |
missense_variant | MODERATE | c.1780G>A | p.Val594Ile | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 24/28 | 1869/3445 | 1780/3060 | 594/1019 | chr21 | 46125275 | ||
chr21:46125593
|
G | A | 1 | a0013 | 1 | HG04115.hp2 | missense_variant | MODERATE | c.1945G>A | p.Ala649Thr | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 25/28 | 2034/3445 | 1945/3060 | 649/1019 | chr21 | 46125593 | ||
chr21:46125854
|
G | A | 4 | a0001a0009a0011others(1): Show | 145 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(142): Show |
missense_variant | MODERATE | c.2039G>A | p.Arg680His | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 26/28 | 2128/3445 | 2039/3060 | 680/1019 | chr21 | 46125854 | ||
chr21:46126147
|
G | A | 1 | a0001 | 1 | NA19030.hp2 | missense_variant | MODERATE | c.2332G>A | p.Asp778Asn | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 26/28 | 2421/3445 | 2332/3060 | 778/1019 | chr21 | 46126147 | ||
chr21:46126166
|
G | A | 1 | a0001 | 2 | HG01123.hp1 HG01346.hp1 |
missense_variant | MODERATE | c.2351G>A | p.Arg784His | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 26/28 | 2440/3445 | 2351/3060 | 784/1019 | chr21 | 46126166 | ||
chr21:46126216
|
A | G | 1 | a0001 | 2 | NA19055.hp2 NA19088.hp2 |
missense_variant | MODERATE | c.2401A>G | p.Met801Val | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 26/28 | 2490/3445 | 2401/3060 | 801/1019 | chr21 | 46126216 | ||
chr21:46131980
|
C | T | 1 | a0001 | 1 | NA19089.hp2 | missense_variant | MODERATE | c.2488C>T | p.Arg830Trp | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 28/28 | 2577/3445 | 2488/3060 | 830/1019 | chr21 | 46131980 | ||
chr21:46131995
|
G | A | 1 | a0001 | 2 | NA19057.hp2 NA19080.hp2 |
missense_variant | MODERATE | c.2503G>A | p.Val835Ile | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 28/28 | 2592/3445 | 2503/3060 | 835/1019 | chr21 | 46131995 | ||
chr21:46132010
|
G | A | 1 | a0001 | 1 | NA19079.hp1 | missense_variant | MODERATE | c.2518G>A | p.Gly840Ser | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 28/28 | 2607/3445 | 2518/3060 | 840/1019 | chr21 | 46132010 | ||
chr21:46132050
|
G | A | 1 | a0001 | 1 | HG01975.hp2 | missense_variant | MODERATE | c.2558G>A | p.Arg853Gln | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 28/28 | 2647/3445 | 2558/3060 | 853/1019 | chr21 | 46132050 | ||
chr21:46132175
|
A | C | 1 | a0008 | 2 | HG01516.hp1 HG01517.hp2 |
missense_variant | MODERATE | c.2683A>C | p.Ser895Arg | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 28/28 | 2772/3445 | 2683/3060 | 895/1019 | chr21 | 46132175 | ||
chr21:46132295
|
G | A | 1 | a0004 | 17 | HG00438.hp2 HG00639.hp1 HG01074.hp1 others(14): Show |
missense_variant | MODERATE | c.2803G>A | p.Gly935Arg | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 28/28 | 2892/3445 | 2803/3060 | 935/1019 | chr21 | 46132295 | ||
chr21:46132419
|
T | C | 1 | a0001 | 1 | NA19054.hp1 | missense_variant | MODERATE | c.2927T>C | p.Leu976Ser | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 28/28 | 3016/3445 | 2927/3060 | 976/1019 | chr21 | 46132419 | ||
chr21:46132436
|
A | G | 1 | a0001 | 3 | NA18998.hp2 NA19005.hp2 NA19009.hp2 |
missense_variant | MODERATE | c.2944A>G | p.Met982Val | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 28/28 | 3033/3445 | 2944/3060 | 982/1019 | chr21 | 46132436 | ||
chr21:46132452
|
C | T | 1 | a0001 | 2 | HG01069.hp1 HG01071.hp2 |
missense_variant | MODERATE | c.2960C>T | p.Thr987Met | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 28/28 | 3049/3445 | 2960/3060 | 987/1019 | chr21 | 46132452 | ||
chr21:46132472
|
G | A | 4 | a0001a0005a0010others(1): Show | 20 | HG00673.hp2 HG02083.hp1 NA18747.hp1 others(17): Show |
missense_variant | MODERATE | c.2980G>A | p.Ala994Thr | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 28/28 | 3069/3445 | 2980/3060 | 994/1019 | chr21 | 46132472 | ||
chr21:46132475
|
G | A | 1 | a0001 | 2 | HG02965.hp1 HG03209.hp1 |
missense_variant | MODERATE | c.2983G>A | p.Ala995Thr | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 28/28 | 3072/3445 | 2983/3060 | 995/1019 | chr21 | 46132475 | ||
chr21:46132509
|
C | T | 1 | a0001 | 2 | HG01243.hp2 HG02280.hp1 |
missense_variant | MODERATE | c.3017C>T | p.Ala1006Val | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 28/28 | 3106/3445 | 3017/3060 | 1006/1019 | chr21 | 46132509 | ||
chr21:46132535
|
A | C | 2 | a0001a0007 | 8 | HG01884.hp2 HG01978.hp1 HG02258.hp2 others(5): Show |
missense_variant | MODERATE | c.3043A>C | p.Ile1015Leu | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 28/28 | 3132/3445 | 3043/3060 | 1015/1019 | chr21 | 46132535 |
chr:pos | ref | alt | # # of chapid |
chapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr21:46112274
|
G | A | 1 | a0001c0033 | 1 | NA18747.hp2 | synonymous_variant | LOW | c.411G>A | p.Ala137Ala | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 3/28 | 500/3445 | 411/3060 | 137/1019 | chr21 | 46112274 | ||
chr21:46112346
|
C | T | 1 | a0003c0032 | 2 | HG02818.hp1 HG03453.hp2 |
synonymous_variant | LOW | c.483C>T | p.Thr161Thr | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 3/28 | 572/3445 | 483/3060 | 161/1019 | chr21 | 46112346 | ||
chr21:46112403
|
C | A | 1 | a0010c0066 | 1 | NA18989.hp1 | synonymous_variant | LOW | c.540C>A | p.Ala180Ala | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 3/28 | 629/3445 | 540/3060 | 180/1019 | chr21 | 46112403 | ||
chr21:46112490
|
C | T | 1 | a0001c0049 | 1 | HG02698.hp2 | synonymous_variant | LOW | c.627C>T | p.His209His | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 3/28 | 716/3445 | 627/3060 | 209/1019 | chr21 | 46112490 | ||
chr21:46112526
|
C | T | 7 | a0003c0010a0003c0063a0003c0064others(4): Show | 31 | HG00438.hp2 HG00639.hp1 HG00673.hp2 others(28): Show |
synonymous_variant | LOW | c.663C>T | p.Pro221Pro | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 3/28 | 752/3445 | 663/3060 | 221/1019 | chr21 | 46112526 | ||
chr21:46116668
|
C | T | 1 | a0002c0062 | 1 | HG02809.hp1 | synonymous_variant | LOW | c.945C>T | p.Asp315Asp | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 9/28 | 1034/3445 | 945/3060 | 315/1019 | chr21 | 46116668 | ||
chr21:46119065
|
T | C | 1 | a0002c0055 | 1 | HG03710.hp1 | synonymous_variant | LOW | c.1215T>C | p.Pro405Pro | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 14/28 | 1304/3445 | 1215/3060 | 405/1019 | chr21 | 46119065 | ||
chr21:46124662
|
T | C | 1 | a0006c0056 | 1 | HG02647.hp2 | synonymous_variant | LOW | c.1683T>C | p.Gly561Gly | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 22/28 | 1772/3445 | 1683/3060 | 561/1019 | chr21 | 46124662 | ||
chr21:46124911
|
C | T | 1 | a0002c0061 | 1 | HG02109.hp2 | synonymous_variant | LOW | c.1761C>T | p.Pro587Pro | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 23/28 | 1850/3445 | 1761/3060 | 587/1019 | chr21 | 46124911 | ||
chr21:46125909
|
G | A | 24 | a0001c0001a0001c0004a0001c0006others(21): Show | 145 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(142): Show |
synonymous_variant | LOW | c.2094G>A | p.Ala698Ala | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 26/28 | 2183/3445 | 2094/3060 | 698/1019 | chr21 | 46125909 | ||
chr21:46125912
|
C | T | 24 | a0001c0001a0001c0004a0001c0006others(21): Show | 145 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(142): Show |
synonymous_variant | LOW | c.2097C>T | p.Gly699Gly | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 26/28 | 2186/3445 | 2097/3060 | 699/1019 | chr21 | 46125912 | ||
chr21:46125975
|
C | G | 3 | a0001c0035a0001c0045a0001c0047 | 3 | HG02965.hp1 HG02976.hp1 HG03209.hp1 |
synonymous_variant | LOW | c.2160C>G | p.Arg720Arg | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 26/28 | 2249/3445 | 2160/3060 | 720/1019 | chr21 | 46125975 | ||
chr21:46125978
|
G | A | 5 | a0002c0012a0002c0029a0006c0028others(2): Show | 12 | HG02109.hp1 HG02145.hp1 HG02257.hp1 others(9): Show |
synonymous_variant | LOW | c.2163G>A | p.Gln721Gln | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 26/28 | 2252/3445 | 2163/3060 | 721/1019 | chr21 | 46125978 | ||
chr21:46125999
|
G | A | 20 | a0001c0001a0001c0006a0001c0011others(17): Show | 118 | HG00140.hp1 HG00280.hp1 HG00558.hp1 others(115): Show |
synonymous_variant | LOW | c.2184G>A | p.Val728Val | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 26/28 | 2273/3445 | 2184/3060 | 728/1019 | chr21 | 46125999 | ||
chr21:46126011
|
C | T | 1 | a0001c0040 | 1 | NA18942.hp1 | synonymous_variant | LOW | c.2196C>T | p.Asp732Asp | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 26/28 | 2285/3445 | 2196/3060 | 732/1019 | chr21 | 46126011 | ||
chr21:46126092
|
C | T | 1 | a0009c0059 | 1 | NA20129.hp2 | synonymous_variant | LOW | c.2277C>T | p.Ile759Ile | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 26/28 | 2366/3445 | 2277/3060 | 759/1019 | chr21 | 46126092 | ||
chr21:46126137
|
C | T | 1 | a0003c0054 | 1 | HG01243.hp1 | synonymous_variant | LOW | c.2322C>T | p.Ser774Ser | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 26/28 | 2411/3445 | 2322/3060 | 774/1019 | chr21 | 46126137 | ||
chr21:46126146
|
C | T | 1 | a0005c0065 | 1 | NA18980.hp1 | synonymous_variant | LOW | c.2331C>T | p.Cys777Cys | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 26/28 | 2420/3445 | 2331/3060 | 777/1019 | chr21 | 46126146 | ||
chr21:46132084
|
G | A | 1 | a0002c0029 | 2 | HG02451.hp2 NA18906.hp1 |
synonymous_variant | LOW | c.2592G>A | p.Thr864Thr | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 28/28 | 2681/3445 | 2592/3060 | 864/1019 | chr21 | 46132084 | ||
chr21:46132099
|
C | T | 1 | a0001c0041 | 1 | HG01496.hp1 | synonymous_variant | LOW | c.2607C>T | p.Asp869Asp | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 28/28 | 2696/3445 | 2607/3060 | 869/1019 | chr21 | 46132099 | ||
chr21:46132102
|
C | T | 1 | a0014c0051 | 1 | NA19043.hp2 | synonymous_variant | LOW | c.2610C>T | p.Asp870Asp | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 28/28 | 2699/3445 | 2610/3060 | 870/1019 | chr21 | 46132102 | ||
chr21:46132189
|
G | T | 1 | a0003c0064 | 1 | HG01257.hp2 | synonymous_variant | LOW | c.2697G>T | p.Thr899Thr | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 28/28 | 2786/3445 | 2697/3060 | 899/1019 | chr21 | 46132189 | ||
chr21:46132216
|
A | G | 14 | a0001c0007a0001c0026a0001c0035others(11): Show | 37 | HG00423.hp2 HG00597.hp1 HG00639.hp2 others(34): Show |
synonymous_variant | LOW | c.2724A>G | p.Thr908Thr | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 28/28 | 2813/3445 | 2724/3060 | 908/1019 | chr21 | 46132216 | ||
chr21:46132348
|
G | A | 1 | a0002c0031 | 2 | HG02055.hp2 HG02970.hp1 |
synonymous_variant | LOW | c.2856G>A | p.Thr952Thr | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 28/28 | 2945/3445 | 2856/3060 | 952/1019 | chr21 | 46132348 | ||
chr21:46132471
|
C | T | 6 | a0001c0009a0001c0026a0001c0044others(3): Show | 22 | HG00140.hp2 HG00423.hp2 HG00597.hp1 others(19): Show |
synonymous_variant | LOW | c.2979C>T | p.Arg993Arg | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 28/28 | 3068/3445 | 2979/3060 | 993/1019 | chr21 | 46132471 |
chr:pos | ref | alt | # # of thapid:transcript level |
thapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr21:46098127
|
G | T | 1 | a0002c0003t0015 | 1 | HG00621.hp2 | 5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-74G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/28 | chr21 | 46098127 | ||||||
chr21:46132556
|
C | T | 1 | a0001c0002t0014 | 1 | HG02015.hp2 | 3_prime_UTR_variant | MODIFIER | c.*4C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 28/28 | 4 | chr21 | 46132556 | |||||
chr21:46132571
|
G | A | 1 | a0001c0002t0009 | 1 | HG03540.hp1 | 3_prime_UTR_variant | MODIFIER | c.*19G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 28/28 | 19 | chr21 | 46132571 | |||||
chr21:46132608
|
T | G | 2 | a0001c0001t0006a0001c0021t0006 | 4 | HG01069.hp1 HG01071.hp2 HG02683.hp2 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*56T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 28/28 | 56 | chr21 | 46132608 | |||||
chr21:46132613
|
G | A | 1 | a0004c0005t0004 | 13 | HG01074.hp1 HG01109.hp1 HG01884.hp1 others(10): Show |
3_prime_UTR_variant | MODIFIER | c.*61G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 28/28 | 61 | chr21 | 46132613 | |||||
chr21:46132618
|
C | G | 1 | a0002c0012t0007 | 3 | HG02257.hp1 HG02486.hp2 HG02622.hp2 |
3_prime_UTR_variant | MODIFIER | c.*66C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 28/28 | 66 | chr21 | 46132618 | |||||
chr21:46132629
|
C | A | 1 | a0001c0006t0010 | 1 | HG02083.hp1 | 3_prime_UTR_variant | MODIFIER | c.*77C>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 28/28 | 77 | chr21 | 46132629 | |||||
chr21:46132668
|
T | C | 6 | a0001c0007t0003a0001c0044t0003a0002c0013t0003others(3): Show | 20 | HG00423.hp2 HG00597.hp1 HG01243.hp1 others(17): Show |
3_prime_UTR_variant | MODIFIER | c.*116T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 28/28 | 116 | chr21 | 46132668 | |||||
chr21:46132671
|
A | G | 8 | a0001c0007t0003a0001c0007t0005a0001c0026t0005others(5): Show | 26 | HG00423.hp2 HG00597.hp1 HG01243.hp1 others(23): Show |
3_prime_UTR_variant | MODIFIER | c.*119A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 28/28 | 119 | chr21 | 46132671 | |||||
chr21:46132708
|
G | A | 1 | a0001c0002t0008 | 2 | HG03491.hp1 HG03492.hp2 |
3_prime_UTR_variant | MODIFIER | c.*156G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 28/28 | 156 | chr21 | 46132708 | |||||
chr21:46132710
|
C | T | 19 | a0001c0002t0002a0001c0002t0008a0001c0002t0009others(16): Show | 91 | HG00423.hp1 HG00544.hp2 HG00597.hp2 others(88): Show |
3_prime_UTR_variant | MODIFIER | c.*158C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 28/28 | 158 | chr21 | 46132710 | |||||
chr21:46132764
|
C | T | 1 | a0001c0002t0013 | 1 | NA18948.hp1 | 3_prime_UTR_variant | MODIFIER | c.*212C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 28/28 | 212 | chr21 | 46132764 | |||||
chr21:46132822
|
C | A | 1 | a0001c0002t0012 | 1 | NA18942.hp2 | 3_prime_UTR_variant | MODIFIER | c.*270C>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 28/28 | 270 | chr21 | 46132822 | |||||
chr21:46132838
|
C | T | 1 | a0001c0001t0011 | 1 | HG01175.hp2 | 3_prime_UTR_variant | MODIFIER | c.*286C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 28/28 | 286 | chr21 | 46132838 |
chr:pos | ref | alt | # # of ghapid:genebody level |
ghapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr21:46098272
|
T | C | 247 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(244): Show | 255 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(252): Show |
intron_variant | MODIFIER | c.-28+99T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46098272 | ||||||
chr21:46098393
|
G | C | 1 | a0001c0002t0002g0252 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.-28+220G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46098393 | ||||||
chr21:46098456
|
T | TG | 210 | a0001c0001t0001g0002a0001c0001t0001g0008a0001c0001t0001g0009others(207): Show | 216 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(213): Show |
intron_variant | MODIFIER | c.-28+290dupG | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46098456 | |||||
chr21:46098456
|
T | TGG | 32 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0033others(29): Show | 34 | HG00438.hp1 HG00544.hp1 HG00597.hp2 others(31): Show |
intron_variant | MODIFIER | c.-28+289_-28+290dup others(2): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46098456 | |||||
chr21:46098515
|
C | T | 9 | a0001c0001t0011g0334a0001c0009t0001g0021a0001c0009t0001g0259others(6): Show | 10 | HG00735.hp2 HG01099.hp2 HG01106.hp1 others(7): Show |
intron_variant | MODIFIER | c.-28+342C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46098515 | ||||||
chr21:46098521
|
C | T | 2 | a0004c0005t0004g0238a0004c0005t0004g0239 | 2 | HG01884.hp1 HG02258.hp1 |
intron_variant | MODIFIER | c.-28+348C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46098521 | ||||||
chr21:46098565
|
G | A | 1 | a0001c0015t0002g0260 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.-28+392G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46098565 | ||||||
chr21:46098608
|
C | T | 1 | a0001c0001t0001g0237 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.-28+435C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46098608 | ||||||
chr21:46098635
|
G | A | 2 | a0001c0035t0001g0052a0001c0045t0001g0051 | 2 | HG02965.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.-28+462G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46098635 | ||||||
chr21:46098657
|
G | T | 1 | a0001c0002t0009g0330 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.-28+484G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46098657 | ||||||
chr21:46098693
|
T | A | 249 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(246): Show | 258 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(255): Show |
intron_variant | MODIFIER | c.-28+520T>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46098693 | ||||||
chr21:46098779
|
G | A | 2 | a0001c0035t0001g0052a0001c0045t0001g0051 | 2 | HG02965.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.-28+606G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46098779 | ||||||
chr21:46098817
|
G | A | 61 | a0001c0001t0001g0054a0001c0001t0001g0058a0001c0007t0005g0059others(58): Show | 62 | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(59): Show |
intron_variant | MODIFIER | c.-28+644G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46098817 | ||||||
chr21:46098835
|
A | C | 1 | a0003c0008t0003g0050 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.-28+662A>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46098835 | ||||||
chr21:46098835
|
A | T | 3 | a0006c0028t0001g0096a0006c0028t0001g0098a0006c0056t0001g0097 | 3 | HG02109.hp1 HG02647.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.-28+662A>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46098835 | ||||||
chr21:46098904
|
G | A | 1 | a0004c0005t0001g0099 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.-28+731G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46098904 | ||||||
chr21:46098977
|
C | G | 1 | a0004c0005t0004g0230 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.-28+804C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46098977 | ||||||
chr21:46099025
|
C | G | 1 | a0001c0001t0001g0229 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.-28+852C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46099025 | ||||||
chr21:46099099
|
T | C | 2 | a0003c0032t0001g0240a0003c0032t0001g0241 | 2 | HG02818.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.-28+926T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46099099 | ||||||
chr21:46099112
|
G | T | 61 | a0001c0001t0001g0054a0001c0001t0001g0058a0001c0007t0005g0059others(58): Show | 62 | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(59): Show |
intron_variant | MODIFIER | c.-28+939G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46099112 | ||||||
chr21:46099261
|
G | A | 120 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(117): Show | 126 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(123): Show |
intron_variant | MODIFIER | c.-28+1088G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46099261 | ||||||
chr21:46099295
|
T | A | 1 | a0001c0001t0001g0033 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.-28+1122T>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46099295 | ||||||
chr21:46099319
|
G | T | 1 | a0001c0002t0002g0329 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.-28+1146G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46099319 | ||||||
chr21:46099360
|
G | T | 93 | a0001c0001t0011g0334a0001c0002t0001g0322a0001c0002t0002g0001others(90): Show | 107 | HG00140.hp2 HG00423.hp1 HG00544.hp2 others(104): Show |
intron_variant | MODIFIER | c.-28+1187G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46099360 | ||||||
chr21:46099395
|
C | T | 229 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(226): Show | 249 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(246): Show |
intron_variant | MODIFIER | c.-28+1222C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46099395 | ||||||
chr21:46099444
|
C | G | 1 | a0014c0051t0001g0225 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.-28+1271C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46099444 | ||||||
chr21:46099455
|
C | CA | 17 | a0001c0001t0001g0054a0001c0001t0001g0100a0001c0001t0001g0101others(14): Show | 18 | HG00597.hp1 HG01109.hp1 HG01257.hp2 others(15): Show |
intron_variant | MODIFIER | c.-28+1309dupA | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46099455 | |||||
chr21:46099455
|
CA | C | 129 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(126): Show | 136 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(133): Show |
intron_variant | MODIFIER | c.-28+1309delA | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46099455 | |||||
chr21:46099455
|
CAA | C | 24 | a0001c0001t0001g0049a0001c0004t0001g0186a0001c0004t0001g0248others(21): Show | 24 | HG01243.hp2 HG01261.hp2 HG01433.hp1 others(21): Show |
intron_variant | MODIFIER | c.-28+1308_-28+1309d others(4): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46099455 | |||||
chr21:46099455
|
CAAAAA | C | 8 | a0001c0002t0002g0269a0001c0002t0002g0270a0001c0002t0002g0271others(5): Show | 8 | HG00423.hp1 HG00738.hp1 HG01346.hp2 others(5): Show |
intron_variant | MODIFIER | c.-28+1305_-28+1309d others(7): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46099455 | |||||
chr21:46099455
|
CAAAAAA | C | 82 | a0001c0001t0011g0334a0001c0002t0001g0322a0001c0002t0002g0001others(79): Show | 96 | HG00140.hp2 HG00544.hp2 HG00639.hp2 others(93): Show |
intron_variant | MODIFIER | c.-28+1304_-28+1309d others(8): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46099455 | |||||
chr21:46099592
|
G | T | 1 | a0001c0002t0014g0328 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.-28+1419G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46099592 | ||||||
chr21:46099621
|
T | C | 261 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(258): Show | 270 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(267): Show |
intron_variant | MODIFIER | c.-28+1448T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46099621 | ||||||
chr21:46099806
|
A | G | 229 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(226): Show | 249 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(246): Show |
intron_variant | MODIFIER | c.-28+1633A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46099806 | ||||||
chr21:46099871
|
A | G | 4 | a0001c0015t0002g0260a0001c0015t0002g0326a0001c0015t0002g0327others(1): Show | 4 | HG01884.hp2 HG01978.hp1 HG02257.hp2 others(1): Show |
intron_variant | MODIFIER | c.-28+1698A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46099871 | ||||||
chr21:46099889
|
C | CG | 13 | a0001c0007t0005g0066a0002c0003t0001g0025a0002c0003t0001g0031others(10): Show | 13 | HG00544.hp1 HG02145.hp1 HG02486.hp2 others(10): Show |
intron_variant | MODIFIER | c.-28+1716_-28+1717i others(3): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46099889 | ||||||
chr21:46099889
|
C | CTTTTTTT | 11 | a0001c0001t0001g0103a0001c0001t0001g0130a0001c0001t0001g0229others(8): Show | 12 | HG00280.hp2 HG01123.hp2 HG01256.hp2 others(9): Show |
intron_variant | MODIFIER | c.-28+1733_-28+1739d others(9): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46099889 | |||||
chr21:46099889
|
C | CTTTTTTT others(1): Show |
73 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0008others(70): Show | 75 | HG00140.hp1 HG00323.hp1 HG00609.hp1 others(72): Show |
intron_variant | MODIFIER | c.-28+1732_-28+1739d others(10): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46099889 | |||||
chr21:46099889
|
C | CTTTTTTT others(2): Show |
38 | a0001c0001t0001g0005a0001c0001t0001g0010a0001c0001t0001g0011others(35): Show | 41 | HG00558.hp1 HG00558.hp2 HG00738.hp2 others(38): Show |
intron_variant | MODIFIER | c.-28+1731_-28+1739d others(11): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46099889 | |||||
chr21:46099889
|
C | CTTTTTTT others(3): Show |
3 | a0001c0001t0001g0036a0001c0001t0001g0125a0001c0001t0001g0185 | 3 | HG02055.hp1 HG04228.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.-28+1730_-28+1739d others(12): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46099889 | |||||
chr21:46099889
|
CT | C | 39 | a0001c0002t0001g0322a0001c0002t0002g0271a0001c0002t0002g0272others(36): Show | 40 | HG00423.hp2 HG00597.hp1 HG01243.hp1 others(37): Show |
intron_variant | MODIFIER | c.-28+1739delT | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46099889 | |||||
chr21:46099889
|
CTT | C | 73 | a0001c0002t0002g0001a0001c0002t0002g0004a0001c0002t0002g0014others(70): Show | 86 | HG00423.hp1 HG00544.hp2 HG00639.hp2 others(83): Show |
intron_variant | MODIFIER | c.-28+1738_-28+1739d others(4): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46099889 | |||||
chr21:46099889
|
CTTT | C | 11 | a0001c0001t0011g0334a0001c0002t0002g0267a0001c0002t0002g0268others(8): Show | 12 | HG00140.hp2 HG00735.hp2 HG00738.hp1 others(9): Show |
intron_variant | MODIFIER | c.-28+1737_-28+1739d others(5): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46099889 | |||||
chr21:46099890
|
T | G | 43 | a0001c0001t0001g0054a0001c0001t0001g0058a0001c0007t0005g0059others(40): Show | 44 | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(41): Show |
intron_variant | MODIFIER | c.-28+1717T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46099890 | ||||||
chr21:46099891
|
T | G | 6 | a0002c0003t0001g0068a0002c0003t0001g0071a0002c0013t0003g0067others(3): Show | 6 | HG02257.hp2 HG02922.hp1 HG02965.hp2 others(3): Show |
intron_variant | MODIFIER | c.-28+1718T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46099891 | ||||||
chr21:46099925
|
A | T | 1 | a0002c0055t0001g0048 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.-28+1752A>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46099925 | ||||||
chr21:46099942
|
G | T | 1 | a0001c0002t0002g0321 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.-28+1769G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46099942 | ||||||
chr21:46099948
|
G | C | 34 | a0001c0001t0001g0054a0001c0001t0001g0058a0002c0003t0001g0006others(31): Show | 35 | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(32): Show |
intron_variant | MODIFIER | c.-28+1775G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46099948 | ||||||
chr21:46099961
|
A | G | 1 | a0001c0025t0001g0232 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-28+1788A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46099961 | ||||||
chr21:46100081
|
G | GT | 4 | a0001c0001t0001g0043a0001c0001t0001g0049a0001c0001t0001g0172others(1): Show | 4 | HG01106.hp2 NA18979.hp2 NA19003.hp1 others(1): Show |
intron_variant | MODIFIER | c.-28+1915dupT | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46100081 | |||||
chr21:46100221
|
G | A | 2 | a0001c0002t0002g0277a0001c0002t0002g0278 | 2 | HG02922.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.-28+2048G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46100221 | ||||||
chr21:46100310
|
G | GTGTT | 3 | a0001c0035t0001g0052a0003c0008t0003g0045a0008c0027t0003g0013 | 4 | HG01516.hp1 HG01517.hp2 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.-28+2156_-28+2159d others(6): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46100310 | |||||
chr21:46100346
|
G | T | 137 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(134): Show | 143 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(140): Show |
intron_variant | MODIFIER | c.-28+2173G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46100346 | ||||||
chr21:46100388
|
G | A | 1 | a0001c0002t0002g0279 | 1 | NA18986.hp2 | intron_variant | MODIFIER | c.-28+2215G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46100388 | ||||||
chr21:46100498
|
A | G | 1 | a0001c0001t0001g0124 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.-28+2325A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46100498 | ||||||
chr21:46100510
|
G | A | 133 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(130): Show | 139 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(136): Show |
intron_variant | MODIFIER | c.-28+2337G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46100510 | ||||||
chr21:46100688
|
T | TA | 137 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(134): Show | 143 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(140): Show |
intron_variant | MODIFIER | c.-28+2517dupA | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46100688 | |||||
chr21:46100747
|
G | T | 6 | a0001c0004t0001g0248a0001c0007t0003g0246a0001c0007t0003g0247others(3): Show | 6 | HG01261.hp2 HG02559.hp2 HG02809.hp2 others(3): Show |
intron_variant | MODIFIER | c.-28+2574G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46100747 | ||||||
chr21:46100790
|
C | G | 1 | a0001c0004t0001g0248 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.-28+2617C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46100790 | ||||||
chr21:46101178
|
T | C | 1 | a0001c0001t0001g0173 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.-28+3005T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46101178 | ||||||
chr21:46101342
|
C | T | 1 | a0001c0001t0006g0171 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.-28+3169C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46101342 | ||||||
chr21:46101411
|
T | A | 2 | a0001c0004t0001g0248a0001c0047t0001g0245 | 2 | HG02809.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.-28+3238T>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46101411 | ||||||
chr21:46101543
|
C | T | 2 | a0001c0023t0001g0250a0001c0023t0001g0251 | 2 | HG02630.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.-28+3370C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46101543 | ||||||
chr21:46101675
|
C | T | 2 | a0001c0023t0001g0250a0001c0023t0001g0251 | 2 | HG02630.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.-28+3502C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46101675 | ||||||
chr21:46101847
|
AT | A | 40 | a0001c0001t0001g0058a0001c0001t0001g0214a0002c0003t0001g0022others(37): Show | 40 | HG00438.hp2 HG00621.hp1 HG00621.hp2 others(37): Show |
intron_variant | MODIFIER | c.-28+3702delT | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46101847 | |||||
chr21:46101847
|
ATT | A | 47 | a0001c0001t0001g0054a0001c0007t0005g0066a0001c0044t0003g0197others(44): Show | 49 | HG00099.hp1 HG00323.hp2 HG00423.hp2 others(46): Show |
intron_variant | MODIFIER | c.-28+3701_-28+3702d others(4): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46101847 | |||||
chr21:46101847
|
ATTT | A | 9 | a0001c0007t0005g0059a0001c0007t0005g0060a0001c0007t0005g0061others(6): Show | 9 | HG00099.hp2 HG01433.hp1 HG02145.hp1 others(6): Show |
intron_variant | MODIFIER | c.-28+3700_-28+3702d others(5): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46101847 | |||||
chr21:46101847
|
ATTTTTTT | A | 25 | a0001c0001t0001g0170a0001c0001t0001g0184a0001c0002t0002g0019others(22): Show | 28 | HG00140.hp2 HG00735.hp2 HG01099.hp2 others(25): Show |
intron_variant | MODIFIER | c.-28+3696_-28+3702d others(9): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46101847 | |||||
chr21:46101847
|
ATTTTTTT others(1): Show |
A | 63 | a0001c0001t0001g0049a0001c0002t0001g0322a0001c0002t0002g0001others(60): Show | 74 | HG00423.hp1 HG00544.hp2 HG00639.hp2 others(71): Show |
intron_variant | MODIFIER | c.-28+3695_-28+3702d others(10): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46101847 | |||||
chr21:46101847
|
ATTTTTTT others(2): Show |
A | 20 | a0001c0001t0001g0113a0001c0001t0001g0172a0001c0001t0001g0182others(17): Show | 20 | HG00738.hp2 HG01168.hp1 HG01169.hp1 others(17): Show |
intron_variant | MODIFIER | c.-28+3694_-28+3702d others(11): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46101847 | |||||
chr21:46101847
|
ATTTTTTT others(3): Show |
A | 102 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(99): Show | 107 | HG00140.hp1 HG00323.hp1 HG00558.hp1 others(104): Show |
intron_variant | MODIFIER | c.-28+3693_-28+3702d others(12): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46101847 | |||||
chr21:46101847
|
ATTTTTTT others(4): Show |
A | 15 | a0001c0001t0001g0033a0001c0001t0001g0125a0001c0001t0001g0126others(12): Show | 16 | HG00280.hp1 HG00280.hp2 HG01123.hp2 others(13): Show |
intron_variant | MODIFIER | c.-28+3692_-28+3702d others(13): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46101847 | |||||
chr21:46101847
|
ATTTTTTT others(5): Show |
A | 1 | a0003c0010t0001g0189 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.-28+3691_-28+3702d others(14): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46101847 | |||||
chr21:46101933
|
G | GA | 132 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(129): Show | 138 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(135): Show |
intron_variant | MODIFIER | c.-28+3770dupA | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46101933 | |||||
chr21:46101982
|
T | G | 133 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(130): Show | 139 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(136): Show |
intron_variant | MODIFIER | c.-28+3809T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46101982 | ||||||
chr21:46102145
|
A | G | 1 | a0002c0003t0001g0094 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.-28+3972A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46102145 | ||||||
chr21:46102185
|
C | A | 86 | a0001c0001t0011g0334a0001c0002t0001g0322a0001c0002t0002g0001others(83): Show | 100 | HG00140.hp2 HG00423.hp1 HG00544.hp2 others(97): Show |
intron_variant | MODIFIER | c.-28+4012C>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46102185 | ||||||
chr21:46102222
|
G | C | 291 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(288): Show | 312 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(309): Show |
intron_variant | MODIFIER | c.-28+4049G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46102222 | ||||||
chr21:46102652
|
C | G | 1 | a0004c0005t0004g0047 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.-28+4479C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46102652 | ||||||
chr21:46102683
|
G | A | 3 | a0002c0003t0001g0227a0002c0003t0001g0228a0002c0062t0001g0226 | 3 | HG02809.hp1 HG02818.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.-28+4510G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46102683 | ||||||
chr21:46102706
|
A | AT | 110 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(107): Show | 116 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(113): Show |
intron_variant | MODIFIER | c.-28+4546dupT | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46102706 | |||||
chr21:46102706
|
A | ATT | 6 | a0001c0001t0001g0049a0001c0001t0001g0163a0001c0001t0001g0243others(3): Show | 6 | HG02083.hp1 NA18747.hp1 NA18964.hp1 others(3): Show |
intron_variant | MODIFIER | c.-28+4545_-28+4546d others(4): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46102706 | |||||
chr21:46102706
|
AT | A | 99 | a0001c0001t0001g0054a0001c0001t0001g0058a0001c0001t0001g0214others(96): Show | 101 | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(98): Show |
intron_variant | MODIFIER | c.-28+4546delT | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46102706 | |||||
chr21:46102885
|
T | C | 230 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(227): Show | 250 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(247): Show |
intron_variant | MODIFIER | c.-28+4712T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46102885 | ||||||
chr21:46102934
|
A | G | 339 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(336): Show | 361 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(358): Show |
intron_variant | MODIFIER | c.-28+4761A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46102934 | ||||||
chr21:46103062
|
C | T | 1 | a0001c0001t0001g0058 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.-28+4889C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46103062 | ||||||
chr21:46103503
|
C | G | 62 | a0001c0001t0001g0054a0001c0001t0001g0058a0001c0007t0005g0059others(59): Show | 63 | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(60): Show |
intron_variant | MODIFIER | c.-28+5330C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46103503 | ||||||
chr21:46103578
|
G | A | 2 | a0001c0001t0001g0163a0001c0001t0001g0175 | 2 | HG00558.hp2 NA19091.hp1 |
intron_variant | MODIFIER | c.-28+5405G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46103578 | ||||||
chr21:46103676
|
G | T | 1 | a0001c0015t0002g0260 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.-28+5503G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46103676 | ||||||
chr21:46103691
|
G | A | 4 | a0001c0023t0001g0250a0001c0023t0001g0251a0007c0030t0002g0092others(1): Show | 4 | HG02630.hp1 HG02717.hp1 HG06807.hp1 others(1): Show |
intron_variant | MODIFIER | c.-28+5518G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46103691 | ||||||
chr21:46103754
|
T | A | 1 | a0002c0003t0001g0072 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.-28+5581T>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46103754 | ||||||
chr21:46103815
|
C | T | 9 | a0001c0004t0001g0261a0001c0009t0001g0021a0001c0009t0001g0253others(6): Show | 10 | HG00140.hp2 HG00735.hp2 HG00738.hp1 others(7): Show |
intron_variant | MODIFIER | c.-28+5642C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46103815 | ||||||
chr21:46103906
|
C | T | 1 | a0001c0004t0001g0174 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.-28+5733C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46103906 | ||||||
chr21:46103918
|
C | G | 341 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(338): Show | 363 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(360): Show |
intron_variant | MODIFIER | c.-28+5745C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46103918 | ||||||
chr21:46103925
|
A | T | 7 | a0003c0008t0003g0044a0003c0008t0003g0050a0003c0008t0003g0191others(4): Show | 7 | HG00423.hp2 HG00597.hp1 NA18941.hp2 others(4): Show |
intron_variant | MODIFIER | c.-28+5752A>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46103925 | ||||||
chr21:46103976
|
A | G | 1 | a0003c0016t0001g0231 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.-28+5803A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46103976 | ||||||
chr21:46104149
|
A | C | 3 | a0001c0022t0001g0236a0001c0022t0001g0254a0001c0025t0001g0232 | 3 | HG01243.hp2 HG02280.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-28+5976A>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46104149 | ||||||
chr21:46104150
|
A | G | 1 | a0001c0001t0001g0049 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.-28+5977A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46104150 | ||||||
chr21:46104151
|
G | A | 1 | a0001c0001t0001g0049 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.-28+5978G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46104151 | ||||||
chr21:46104171
|
GA | G | 131 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(128): Show | 137 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(134): Show |
intron_variant | MODIFIER | c.-28+6007delA | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46104171 | |||||
chr21:46104172
|
A | G | 1 | a0002c0055t0001g0048 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.-28+5999A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46104172 | ||||||
chr21:46104269
|
A | G | 2 | a0001c0023t0001g0250a0001c0023t0001g0251 | 2 | HG02630.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.-28+6096A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46104269 | ||||||
chr21:46104466
|
A | C | 137 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(134): Show | 143 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(140): Show |
intron_variant | MODIFIER | c.-28+6293A>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46104466 | ||||||
chr21:46104518
|
G | T | 5 | a0002c0003t0001g0222a0002c0003t0001g0223a0002c0003t0001g0224others(2): Show | 5 | HG01433.hp1 HG02055.hp2 HG02970.hp1 others(2): Show |
intron_variant | MODIFIER | c.-28+6345G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46104518 | ||||||
chr21:46104570
|
T | C | 1 | a0007c0030t0002g0092 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.-28+6397T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46104570 | ||||||
chr21:46104701
|
A | G | 4 | a0003c0008t0003g0045a0003c0008t0003g0192a0003c0008t0003g0199others(1): Show | 5 | HG01516.hp1 HG01517.hp2 HG01981.hp2 others(2): Show |
intron_variant | MODIFIER | c.-28+6528A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46104701 | ||||||
chr21:46104702
|
G | C | 1 | a0003c0032t0001g0240 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.-28+6529G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46104702 | ||||||
chr21:46104844
|
A | G | 1 | a0001c0001t0001g0113 | 1 | NA19060.hp2 | intron_variant | MODIFIER | c.-27-6606A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46104844 | ||||||
chr21:46104900
|
A | T | 1 | a0003c0008t0003g0050 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.-27-6550A>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46104900 | ||||||
chr21:46105042
|
C | T | 133 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(130): Show | 139 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(136): Show |
intron_variant | MODIFIER | c.-27-6408C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46105042 | ||||||
chr21:46105160
|
T | A | 1 | a0002c0012t0007g0032 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.-27-6290T>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46105160 | ||||||
chr21:46105190
|
C | T | 3 | a0001c0015t0002g0260a0001c0015t0002g0326a0001c0015t0002g0327 | 3 | HG01884.hp2 HG01978.hp1 HG02258.hp2 |
intron_variant | MODIFIER | c.-27-6260C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46105190 | ||||||
chr21:46105333
|
C | G | 3 | a0003c0010t0001g0189a0003c0010t0001g0190a0003c0010t0001g0196 | 3 | HG02145.hp2 HG02615.hp1 HG02717.hp2 |
intron_variant | MODIFIER | c.-27-6117C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46105333 | ||||||
chr21:46105393
|
A | G | 1 | a0002c0013t0003g0067 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.-27-6057A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46105393 | ||||||
chr21:46105426
|
T | C | 9 | a0001c0004t0001g0261a0001c0009t0001g0021a0001c0009t0001g0253others(6): Show | 10 | HG00140.hp2 HG00735.hp2 HG00738.hp1 others(7): Show |
intron_variant | MODIFIER | c.-27-6024T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46105426 | ||||||
chr21:46105771
|
A | G | 1 | a0001c0004t0001g0174 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.-27-5679A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46105771 | ||||||
chr21:46105910
|
A | C | 1 | a0007c0060t0002g0070 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-27-5540A>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46105910 | ||||||
chr21:46106042
|
C | T | 1 | a0004c0005t0004g0203 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.-27-5408C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46106042 | ||||||
chr21:46106229
|
A | G | 1 | a0003c0008t0003g0191 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.-27-5221A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46106229 | ||||||
chr21:46106326
|
G | A | 235 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(232): Show | 255 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(252): Show |
intron_variant | MODIFIER | c.-27-5124G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46106326 | ||||||
chr21:46106805
|
G | A | 126 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(123): Show | 132 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(129): Show |
intron_variant | MODIFIER | c.-27-4645G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46106805 | ||||||
chr21:46106864
|
T | C | 1 | a0002c0003t0001g0057 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.-27-4586T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46106864 | ||||||
chr21:46106966
|
A | T | 1 | a0001c0004t0001g0162 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.-27-4484A>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46106966 | ||||||
chr21:46107031
|
C | T | 1 | a0001c0001t0001g0214 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.-27-4419C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46107031 | ||||||
chr21:46107221
|
T | G | 3 | a0001c0015t0002g0260a0001c0015t0002g0326a0001c0015t0002g0327 | 3 | HG01884.hp2 HG01978.hp1 HG02258.hp2 |
intron_variant | MODIFIER | c.-27-4229T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46107221 | ||||||
chr21:46107278
|
C | G | 237 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(234): Show | 257 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(254): Show |
intron_variant | MODIFIER | c.-27-4172C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46107278 | ||||||
chr21:46107294
|
G | A | 237 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(234): Show | 257 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(254): Show |
intron_variant | MODIFIER | c.-27-4156G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46107294 | ||||||
chr21:46107355
|
T | C | 284 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(281): Show | 305 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(302): Show |
intron_variant | MODIFIER | c.-27-4095T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46107355 | ||||||
chr21:46107455
|
T | C | 100 | a0001c0001t0001g0140a0001c0001t0001g0170a0001c0001t0001g0184others(97): Show | 114 | HG00140.hp2 HG00423.hp1 HG00544.hp2 others(111): Show |
intron_variant | MODIFIER | c.-27-3995T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46107455 | ||||||
chr21:46107496
|
T | A | 2 | a0001c0023t0001g0250a0001c0023t0001g0251 | 2 | HG02630.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.-27-3954T>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46107496 | ||||||
chr21:46107594
|
G | A | 237 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(234): Show | 257 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(254): Show |
intron_variant | MODIFIER | c.-27-3856G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46107594 | ||||||
chr21:46107695
|
T | G | 1 | a0004c0005t0001g0204 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.-27-3755T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46107695 | ||||||
chr21:46107798
|
C | G | 2 | a0003c0032t0001g0240a0003c0032t0001g0241 | 2 | HG02818.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.-27-3652C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46107798 | ||||||
chr21:46107974
|
T | G | 2 | a0003c0032t0001g0240a0003c0032t0001g0241 | 2 | HG02818.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.-27-3476T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46107974 | ||||||
chr21:46108105
|
TA | T | 52 | a0001c0001t0001g0214a0001c0002t0002g0282a0001c0002t0002g0305others(49): Show | 53 | HG00140.hp2 HG00438.hp2 HG00735.hp2 others(50): Show |
intron_variant | MODIFIER | c.-27-3344delA | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46108105 | ||||||
chr21:46108106
|
A | T | 6 | a0001c0001t0001g0175a0001c0046t0001g0249a0001c0047t0001g0245others(3): Show | 6 | HG00558.hp2 HG00621.hp2 HG02976.hp1 others(3): Show |
intron_variant | MODIFIER | c.-27-3344A>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46108106 | ||||||
chr21:46108106
|
AT | A | 78 | a0001c0001t0001g0170a0001c0001t0001g0184a0001c0002t0001g0322others(75): Show | 91 | HG00423.hp1 HG00544.hp2 HG00639.hp1 others(88): Show |
intron_variant | MODIFIER | c.-27-3335delT | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46108106 | |||||
chr21:46108108
|
T | A | 32 | a0001c0001t0001g0105a0001c0001t0001g0140a0001c0001t0001g0141others(29): Show | 32 | HG00140.hp1 HG00438.hp1 HG00544.hp1 others(29): Show |
intron_variant | MODIFIER | c.-27-3342T>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46108108 | ||||||
chr21:46108109
|
T | A | 1 | a0001c0002t0002g0284 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.-27-3341T>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46108109 | ||||||
chr21:46108750
|
A | G | 1 | a0002c0003t0001g0081 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.-27-2700A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46108750 | ||||||
chr21:46108856
|
C | T | 3 | a0001c0007t0003g0246a0001c0007t0003g0247a0001c0025t0001g0235 | 3 | HG01261.hp2 HG02559.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.-27-2594C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46108856 | ||||||
chr21:46108996
|
G | A | 117 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(114): Show | 122 | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(119): Show |
intron_variant | MODIFIER | c.-27-2454G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46108996 | ||||||
chr21:46109229
|
G | A | 6 | a0001c0044t0003g0197a0003c0008t0003g0045a0003c0008t0003g0192others(3): Show | 7 | HG01243.hp1 HG01516.hp1 HG01517.hp2 others(4): Show |
intron_variant | MODIFIER | c.-27-2221G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46109229 | ||||||
chr21:46109311
|
G | A | 2 | a0003c0032t0001g0240a0003c0032t0001g0241 | 2 | HG02818.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.-27-2139G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46109311 | ||||||
chr21:46109327
|
G | A | 2 | a0003c0032t0001g0240a0003c0032t0001g0241 | 2 | HG02818.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.-27-2123G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46109327 | ||||||
chr21:46109426
|
C | T | 2 | a0003c0032t0001g0240a0003c0032t0001g0241 | 2 | HG02818.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.-27-2024C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46109426 | ||||||
chr21:46109434
|
G | A | 94 | a0001c0002t0001g0322a0001c0002t0002g0001a0001c0002t0002g0004others(91): Show | 108 | HG00140.hp2 HG00423.hp1 HG00544.hp2 others(105): Show |
intron_variant | MODIFIER | c.-27-2016G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46109434 | ||||||
chr21:46109442
|
C | T | 2 | a0001c0007t0003g0247a0001c0025t0001g0235 | 2 | HG01261.hp2 HG02559.hp2 |
intron_variant | MODIFIER | c.-27-2008C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46109442 | ||||||
chr21:46109443
|
G | A | 2 | a0001c0004t0001g0142a0001c0004t0001g0143 | 2 | HG00323.hp1 HG03017.hp2 |
intron_variant | MODIFIER | c.-27-2007G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46109443 | ||||||
chr21:46109451
|
G | A | 3 | a0001c0007t0003g0246a0001c0007t0003g0247a0001c0025t0001g0235 | 3 | HG01261.hp2 HG02559.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.-27-1999G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46109451 | ||||||
chr21:46109522
|
C | G | 1 | a0002c0003t0001g0094 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.-27-1928C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46109522 | ||||||
chr21:46109532
|
C | T | 2 | a0003c0032t0001g0240a0003c0032t0001g0241 | 2 | HG02818.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.-27-1918C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46109532 | ||||||
chr21:46109823
|
G | T | 2 | a0001c0018t0001g0169a0001c0018t0001g0187 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.-27-1627G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46109823 | ||||||
chr21:46109874
|
T | C | 1 | a0001c0002t0002g0269 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.-27-1576T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46109874 | ||||||
chr21:46109908
|
T | C | 2 | a0003c0032t0001g0240a0003c0032t0001g0241 | 2 | HG02818.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.-27-1542T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46109908 | ||||||
chr21:46109978
|
A | G | 1 | a0002c0012t0001g0026 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.-27-1472A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46109978 | ||||||
chr21:46110149
|
A | G | 1 | a0005c0017t0002g0312 | 1 | NA18982.hp2 | intron_variant | MODIFIER | c.-27-1301A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46110149 | ||||||
chr21:46110284
|
C | T | 1 | a0002c0003t0001g0024 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.-27-1166C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46110284 | ||||||
chr21:46110375
|
A | C | 292 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(289): Show | 313 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(310): Show |
intron_variant | MODIFIER | c.-27-1075A>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46110375 | ||||||
chr21:46110401
|
G | A | 1 | a0003c0008t0003g0193 | 1 | NA18994.hp2 | intron_variant | MODIFIER | c.-27-1049G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46110401 | ||||||
chr21:46110476
|
A | G | 3 | a0001c0007t0003g0246a0001c0007t0003g0247a0001c0025t0001g0235 | 3 | HG01261.hp2 HG02559.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.-27-974A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46110476 | ||||||
chr21:46110629
|
G | A | 1 | a0010c0066t0002g0283 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.-27-821G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46110629 | ||||||
chr21:46110688
|
T | C | 145 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(142): Show | 151 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(148): Show |
intron_variant | MODIFIER | c.-27-762T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46110688 | ||||||
chr21:46110721
|
G | A | 1 | a0013c0057t0001g0221 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.-27-729G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46110721 | ||||||
chr21:46110772
|
C | T | 2 | a0001c0007t0003g0247a0001c0025t0001g0235 | 2 | HG01261.hp2 HG02559.hp2 |
intron_variant | MODIFIER | c.-27-678C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46110772 | ||||||
chr21:46110777
|
A | AGCACAGT others(46): Show |
135 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(132): Show | 141 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(138): Show |
intron_variant | MODIFIER | c.-27-644_-27-643ins others(53): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46110777 | |||||
chr21:46110777
|
A | AGCACAGT others(46): Show |
1 | a0001c0046t0001g0249 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.-27-644_-27-643ins others(53): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46110777 | |||||
chr21:46110777
|
A | G | 2 | a0001c0007t0003g0247a0001c0025t0001g0235 | 2 | HG01261.hp2 HG02559.hp2 |
intron_variant | MODIFIER | c.-27-673A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46110777 | ||||||
chr21:46111076
|
T | C | 285 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(282): Show | 306 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(303): Show |
intron_variant | MODIFIER | c.-27-374T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46111076 | ||||||
chr21:46111154
|
C | T | 1 | a0001c0007t0001g0302 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.-27-296C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46111154 | ||||||
chr21:46111164
|
C | A | 1 | a0010c0066t0002g0283 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.-27-286C>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46111164 | ||||||
chr21:46111165
|
A | G | 1 | a0010c0066t0002g0283 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.-27-285A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46111165 | ||||||
chr21:46111185
|
G | T | 5 | a0001c0002t0002g0123a0001c0004t0001g0142a0001c0004t0001g0143others(2): Show | 5 | HG00323.hp1 HG00741.hp1 HG01168.hp2 others(2): Show |
intron_variant | MODIFIER | c.-27-265G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46111185 | ||||||
chr21:46111207
|
C | A | 6 | a0001c0007t0005g0059a0001c0007t0005g0060a0001c0007t0005g0061others(3): Show | 6 | HG02559.hp1 HG02615.hp2 HG02976.hp1 others(3): Show |
intron_variant | MODIFIER | c.-27-243C>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46111207 | ||||||
chr21:46111272
|
C | T | 1 | a0002c0003t0001g0087 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.-27-178C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46111272 | ||||||
chr21:46111301
|
C | T | 127 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(124): Show | 133 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(130): Show |
intron_variant | MODIFIER | c.-27-149C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46111301 | ||||||
chr21:46111302
|
G | A | 3 | a0001c0002t0002g0014a0001c0043t0002g0285a0010c0066t0002g0283 | 4 | HG02040.hp2 NA18964.hp2 NA18989.hp1 others(1): Show |
intron_variant | MODIFIER | c.-27-148G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46111302 | ||||||
chr21:46111316
|
G | A | 3 | a0001c0022t0001g0236a0001c0022t0001g0254a0001c0025t0001g0232 | 3 | HG01243.hp2 HG02280.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-27-134G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46111316 | ||||||
chr21:46111316
|
G | C | 1 | a0009c0059t0001g0091 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-27-134G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46111316 | ||||||
chr21:46111361
|
G | A | 3 | a0001c0015t0002g0260a0001c0015t0002g0326a0001c0015t0002g0327 | 3 | HG01884.hp2 HG01978.hp1 HG02258.hp2 |
intron_variant | MODIFIER | c.-27-89G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46111361 | ||||||
chr21:46111409
|
A | C | 2 | a0001c0001t0001g0161a0001c0001t0001g0181 | 2 | NA18941.hp1 NA19055.hp1 |
intron_variant | MODIFIER | c.-27-41A>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46111409 | ||||||
chr21:46111586
|
GCCCAGGT others(55): Show |
G | 150 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(147): Show | 157 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(154): Show |
intron_variant | MODIFIER | c.116-190_116-129del others(62): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr21 | 46111586 | |||||
chr21:46111586
|
GCCCAGGT others(117): Show |
G | 79 | a0001c0001t0001g0170a0001c0001t0001g0184a0001c0002t0001g0322others(76): Show | 92 | HG00423.hp1 HG00544.hp2 HG00639.hp2 others(89): Show |
intron_variant | MODIFIER | c.115+136_116-129del | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr21 | 46111586 | |||||
chr21:46111673
|
GGGGGCTC others(116): Show |
G | 1 | a0010c0066t0002g0283 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.115+87_116-179del | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr21 | 46111673 | |||||
chr21:46111728
|
GGGGGCCG others(54): Show |
G | 1 | a0012c0052t0001g0160 | 1 | NA19083.hp2 | intron_variant | MODIFIER | c.115+142_116-186del others(61): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr21 | 46111728 | |||||
chr21:46111734
|
C | T | 1 | a0001c0022t0001g0254 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.115+143C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 2/27 | chr21 | 46111734 | ||||||
chr21:46111765
|
G | T | 2 | a0001c0024t0002g0318a0001c0024t0002g0320 | 2 | NA19055.hp2 NA19088.hp2 |
intron_variant | MODIFIER | c.115+174G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 2/27 | chr21 | 46111765 | ||||||
chr21:46111859
|
G | A | 1 | a0002c0003t0001g0075 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.116-120G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 2/27 | chr21 | 46111859 | ||||||
chr21:46111863
|
G | A | 1 | a0001c0001t0001g0114 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.116-116G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 2/27 | chr21 | 46111863 | ||||||
chr21:46111945
|
G | A | 5 | a0001c0001t0006g0132a0001c0001t0006g0171a0001c0021t0006g0145others(2): Show | 5 | HG01069.hp1 HG01071.hp2 HG01516.hp2 others(2): Show |
intron_variant | MODIFIER | c.116-34G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 2/27 | chr21 | 46111945 | ||||||
chr21:46112586
|
C | T | 8 | a0001c0004t0001g0007a0001c0004t0001g0037a0001c0004t0001g0104others(5): Show | 9 | HG00280.hp2 HG01123.hp2 HG01256.hp2 others(6): Show |
intron_variant | MODIFIER | c.714+9C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 3/27 | chr21 | 46112586 | ||||||
chr21:46112593
|
G | A | 1 | a0010c0066t0002g0283 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.714+16G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 3/27 | chr21 | 46112593 | ||||||
chr21:46112594
|
A | G | 1 | a0010c0066t0002g0283 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.714+17A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 3/27 | chr21 | 46112594 | ||||||
chr21:46112606
|
G | A | 11 | a0001c0007t0003g0246a0001c0007t0003g0247a0001c0007t0005g0059others(8): Show | 11 | HG01261.hp2 HG01891.hp1 HG02559.hp1 others(8): Show |
intron_variant | MODIFIER | c.714+29G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 3/27 | chr21 | 46112606 | ||||||
chr21:46112622
|
C | T | 81 | a0001c0002t0001g0322a0001c0002t0002g0001a0001c0002t0002g0004others(78): Show | 94 | HG00423.hp1 HG00544.hp2 HG00639.hp2 others(91): Show |
intron_variant | MODIFIER | c.714+45C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 3/27 | chr21 | 46112622 | ||||||
chr21:46112630
|
C | T | 125 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(122): Show | 131 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(128): Show |
intron_variant | MODIFIER | c.714+53C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 3/27 | chr21 | 46112630 | ||||||
chr21:46112639
|
A | G | 7 | a0001c0004t0001g0261a0001c0009t0001g0021a0001c0009t0001g0253others(4): Show | 8 | HG00140.hp2 HG00735.hp2 HG00738.hp1 others(5): Show |
intron_variant | MODIFIER | c.714+62A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 3/27 | chr21 | 46112639 | ||||||
chr21:46112679
|
G | A | 12 | a0001c0004t0001g0162a0001c0007t0003g0246a0001c0007t0003g0247others(9): Show | 12 | HG01168.hp2 HG01261.hp2 HG01891.hp1 others(9): Show |
intron_variant | MODIFIER | c.714+102G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 3/27 | chr21 | 46112679 | ||||||
chr21:46112725
|
C | A | 1 | a0010c0066t0002g0283 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.715-79C>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 3/27 | chr21 | 46112725 | ||||||
chr21:46112726
|
A | T | 1 | a0010c0066t0002g0283 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.715-78A>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 3/27 | chr21 | 46112726 | ||||||
chr21:46112884
|
G | A | 1 | a0001c0007t0001g0302 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.735+60G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 4/27 | chr21 | 46112884 | ||||||
chr21:46113018
|
C | T | 1 | a0001c0035t0001g0052 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.735+194C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 4/27 | chr21 | 46113018 | ||||||
chr21:46113245
|
C | T | 3 | a0001c0001t0006g0132a0001c0021t0006g0145a0001c0021t0006g0176 | 3 | HG01069.hp1 HG01071.hp2 HG02683.hp2 |
intron_variant | MODIFIER | c.735+421C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 4/27 | chr21 | 46113245 | ||||||
chr21:46113246
|
G | A | 3 | a0003c0010t0001g0189a0003c0010t0001g0190a0003c0010t0001g0196 | 3 | HG02145.hp2 HG02615.hp1 HG02717.hp2 |
intron_variant | MODIFIER | c.735+422G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 4/27 | chr21 | 46113246 | ||||||
chr21:46113250
|
G | T | 1 | a0003c0008t0003g0050 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.735+426G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 4/27 | chr21 | 46113250 | ||||||
chr21:46113265
|
C | A | 2 | a0001c0015t0002g0326a0001c0015t0002g0327 | 2 | HG01884.hp2 HG02258.hp2 |
intron_variant | MODIFIER | c.735+441C>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 4/27 | chr21 | 46113265 | ||||||
chr21:46113312
|
G | A | 6 | a0001c0007t0005g0059a0001c0007t0005g0060a0001c0007t0005g0061others(3): Show | 6 | HG02559.hp1 HG02615.hp2 HG02976.hp1 others(3): Show |
intron_variant | MODIFIER | c.735+488G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 4/27 | chr21 | 46113312 | ||||||
chr21:46113375
|
CTTTTA | C | 3 | a0003c0010t0001g0207a0003c0010t0001g0209a0003c0063t0001g0046 | 3 | HG02723.hp2 HG03516.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.735+553_735+557del others(5): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr21 | 46113375 | |||||
chr21:46113587
|
G | A | 7 | a0003c0008t0003g0044a0003c0008t0003g0050a0003c0008t0003g0191others(4): Show | 7 | HG00423.hp2 HG00597.hp1 NA18941.hp2 others(4): Show |
intron_variant | MODIFIER | c.736-421G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 4/27 | chr21 | 46113587 | ||||||
chr21:46113719
|
G | A | 1 | a0001c0009t0001g0262 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.736-289G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 4/27 | chr21 | 46113719 | ||||||
chr21:46113783
|
G | A | 1 | a0001c0004t0001g0186 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.736-225G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 4/27 | chr21 | 46113783 | ||||||
chr21:46113798
|
A | C | 1 | a0002c0003t0001g0024 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.736-210A>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 4/27 | chr21 | 46113798 | ||||||
chr21:46113844
|
AC | A | 30 | a0003c0010t0001g0189a0003c0010t0001g0190a0003c0010t0001g0196others(27): Show | 30 | HG00438.hp2 HG00639.hp1 HG00673.hp2 others(27): Show |
intron_variant | MODIFIER | c.736-160delC | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr21 | 46113844 | |||||
chr21:46113872
|
C | T | 1 | a0001c0001t0001g0058 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.736-136C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 4/27 | chr21 | 46113872 | ||||||
chr21:46114109
|
C | T | 1 | a0001c0001t0001g0122 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.801+36C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | chr21 | 46114109 | ||||||
chr21:46114130
|
T | C | 9 | a0001c0007t0001g0302a0002c0003t0001g0222a0002c0003t0001g0223others(6): Show | 9 | HG00639.hp2 HG02055.hp2 HG02083.hp2 others(6): Show |
intron_variant | MODIFIER | c.801+57T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | chr21 | 46114130 | ||||||
chr21:46114153
|
G | A | 1 | a0004c0005t0004g0047 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.801+80G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | chr21 | 46114153 | ||||||
chr21:46114230
|
T | G | 1 | a0001c0002t0002g0286 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.801+157T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | chr21 | 46114230 | ||||||
chr21:46114282
|
G | A | 3 | a0001c0001t0001g0146a0001c0001t0001g0147a0001c0001t0001g0182 | 3 | HG00733.hp2 HG01169.hp2 HG01175.hp1 |
intron_variant | MODIFIER | c.801+209G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | chr21 | 46114282 | ||||||
chr21:46114283
|
G | C | 1 | a0002c0003t0001g0068 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.801+210G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | chr21 | 46114283 | ||||||
chr21:46114288
|
A | G | 1 | a0001c0019t0001g0333 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.801+215A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | chr21 | 46114288 | ||||||
chr21:46114295
|
T | C | 1 | a0001c0019t0001g0333 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.801+222T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | chr21 | 46114295 | ||||||
chr21:46114296
|
G | A | 1 | a0001c0019t0001g0333 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.801+223G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | chr21 | 46114296 | ||||||
chr21:46114297
|
C | T | 1 | a0001c0019t0001g0333 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.801+224C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | chr21 | 46114297 | ||||||
chr21:46114398
|
C | G | 3 | a0002c0003t0001g0028a0002c0003t0001g0080a0002c0003t0001g0086 | 3 | HG00099.hp1 HG01255.hp2 HG02071.hp2 |
intron_variant | MODIFIER | c.801+325C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | chr21 | 46114398 | ||||||
chr21:46114424
|
C | CA | 10 | a0001c0002t0002g0287a0001c0009t0001g0021a0001c0009t0001g0253others(7): Show | 11 | HG00140.hp2 HG00735.hp2 HG00738.hp1 others(8): Show |
intron_variant | MODIFIER | c.801+367dupA | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | INFO_REALIGN_3_PRIME | chr21 | 46114424 | |||||
chr21:46114424
|
CA | C | 12 | a0001c0001t0001g0105a0001c0001t0001g0134a0001c0002t0002g0329others(9): Show | 12 | HG00140.hp1 HG00323.hp2 HG01256.hp1 others(9): Show |
intron_variant | MODIFIER | c.801+367delA | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | INFO_REALIGN_3_PRIME | chr21 | 46114424 | |||||
chr21:46114471
|
A | G | 1 | a0004c0005t0004g0213 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.801+398A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | chr21 | 46114471 | ||||||
chr21:46114503
|
A | G | 1 | a0010c0066t0002g0283 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.801+430A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | chr21 | 46114503 | ||||||
chr21:46114504
|
G | A | 1 | a0010c0066t0002g0283 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.801+431G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | chr21 | 46114504 | ||||||
chr21:46114521
|
T | C | 1 | a0003c0016t0001g0231 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.801+448T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | chr21 | 46114521 | ||||||
chr21:46114522
|
G | C | 1 | a0010c0066t0002g0283 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.801+449G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | chr21 | 46114522 | ||||||
chr21:46114524
|
C | A | 1 | a0010c0066t0002g0283 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.801+451C>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | chr21 | 46114524 | ||||||
chr21:46114546
|
T | C | 11 | a0003c0010t0001g0310a0003c0010t0002g0325a0003c0064t0001g0195others(8): Show | 11 | HG00438.hp2 HG00639.hp1 HG00673.hp2 others(8): Show |
intron_variant | MODIFIER | c.801+473T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | chr21 | 46114546 | ||||||
chr21:46114592
|
A | G | 3 | a0002c0013t0001g0219a0002c0055t0001g0048a0013c0057t0001g0221 | 3 | HG02083.hp2 HG03710.hp1 HG04115.hp2 |
intron_variant | MODIFIER | c.801+519A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | chr21 | 46114592 | ||||||
chr21:46114703
|
G | A | 1 | a0010c0066t0002g0283 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.801+630G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | chr21 | 46114703 | ||||||
chr21:46114704
|
T | G | 1 | a0010c0066t0002g0283 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.801+631T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | chr21 | 46114704 | ||||||
chr21:46114826
|
C | T | 3 | a0001c0011t0001g0111a0001c0011t0001g0120a0001c0011t0001g0121 | 3 | HG01891.hp2 HG03209.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.801+753C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | chr21 | 46114826 | ||||||
chr21:46115054
|
G | A | 1 | a0001c0026t0005g0233 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.802-818G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | chr21 | 46115054 | ||||||
chr21:46115151
|
G | C | 15 | a0001c0007t0003g0246a0001c0007t0003g0247a0001c0007t0003g0263others(12): Show | 15 | HG01261.hp2 HG01891.hp1 HG02559.hp1 others(12): Show |
intron_variant | MODIFIER | c.802-721G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | chr21 | 46115151 | ||||||
chr21:46115266
|
C | T | 22 | a0003c0010t0001g0207a0003c0010t0001g0209a0003c0010t0001g0310others(19): Show | 22 | HG00438.hp2 HG00639.hp1 HG00673.hp2 others(19): Show |
intron_variant | MODIFIER | c.802-606C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | chr21 | 46115266 | ||||||
chr21:46115334
|
C | T | 229 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(226): Show | 250 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(247): Show |
intron_variant | MODIFIER | c.802-538C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | chr21 | 46115334 | ||||||
chr21:46115523
|
C | T | 1 | a0001c0001t0001g0159 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.802-349C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | chr21 | 46115523 | ||||||
chr21:46115528
|
G | C | 1 | a0001c0025t0001g0232 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.802-344G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | chr21 | 46115528 | ||||||
chr21:46115596
|
C | T | 1 | a0002c0003t0001g0085 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.802-276C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | chr21 | 46115596 | ||||||
chr21:46115622
|
T | G | 244 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(241): Show | 265 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(262): Show |
intron_variant | MODIFIER | c.802-250T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | chr21 | 46115622 | ||||||
chr21:46115788
|
C | T | 1 | a0001c0015t0002g0260 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.802-84C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | chr21 | 46115788 | ||||||
chr21:46115842
|
G | A | 3 | a0001c0007t0003g0263a0001c0007t0003g0264a0001c0007t0003g0265 | 3 | HG02886.hp2 HG02897.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.802-30G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | chr21 | 46115842 | ||||||
chr21:46116113
|
C | T | 1 | a0001c0006t0001g0306 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.900+60C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 7/27 | chr21 | 46116113 | ||||||
chr21:46116252
|
G | A | 14 | a0001c0007t0003g0246a0001c0007t0003g0247a0001c0007t0003g0263others(11): Show | 14 | HG01261.hp2 HG01891.hp1 HG02559.hp1 others(11): Show |
intron_variant | MODIFIER | c.901-125G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 7/27 | chr21 | 46116252 | ||||||
chr21:46116266
|
C | T | 72 | a0001c0001t0001g0170a0001c0001t0001g0184a0001c0002t0001g0322others(69): Show | 85 | HG00423.hp1 HG00544.hp2 HG00673.hp1 others(82): Show |
intron_variant | MODIFIER | c.901-111C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 7/27 | chr21 | 46116266 | ||||||
chr21:46116295
|
C | T | 5 | a0006c0028t0001g0096a0006c0028t0001g0098a0006c0056t0001g0097others(2): Show | 5 | HG02109.hp1 HG02647.hp2 HG02717.hp1 others(2): Show |
intron_variant | MODIFIER | c.901-82C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 7/27 | chr21 | 46116295 | ||||||
chr21:46116474
|
C | T | 3 | a0001c0002t0002g0300a0001c0002t0002g0301a0001c0002t0002g0305 | 3 | NA18975.hp1 NA19012.hp2 NA19056.hp2 |
intron_variant | MODIFIER | c.927+71C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 8/27 | chr21 | 46116474 | ||||||
chr21:46116522
|
G | A | 1 | a0001c0002t0002g0280 | 1 | NA18950.hp2 | intron_variant | MODIFIER | c.927+119G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 8/27 | chr21 | 46116522 | ||||||
chr21:46116632
|
C | T | 135 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(132): Show | 141 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(138): Show |
intron_variant | MODIFIER | c.928-19C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 8/27 | chr21 | 46116632 | ||||||
chr21:46116693
|
A | C | 1 | a0002c0003t0001g0053 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.954+16A>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 9/27 | chr21 | 46116693 | ||||||
chr21:46116885
|
A | T | 3 | a0002c0003t0001g0028a0002c0003t0001g0080a0002c0003t0001g0086 | 3 | HG00099.hp1 HG01255.hp2 HG02071.hp2 |
intron_variant | MODIFIER | c.999+71A>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 10/27 | chr21 | 46116885 | ||||||
chr21:46116926
|
T | TAC | 46 | a0001c0001t0001g0146a0001c0001t0001g0182a0001c0002t0002g0255others(43): Show | 46 | HG00323.hp2 HG00438.hp2 HG00639.hp1 others(43): Show |
intron_variant | MODIFIER | c.999+141_999+142dup others(2): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 10/27 | INFO_REALIGN_3_PRIME | chr21 | 46116926 | |||||
chr21:46116926
|
T | TACAC | 134 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(131): Show | 139 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(136): Show |
intron_variant | MODIFIER | c.999+139_999+142dup others(4): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 10/27 | INFO_REALIGN_3_PRIME | chr21 | 46116926 | |||||
chr21:46116926
|
T | TACACAC | 19 | a0001c0001t0001g0010a0001c0001t0001g0116a0001c0001t0001g0148others(16): Show | 21 | HG00323.hp1 HG00558.hp1 HG00609.hp1 others(18): Show |
intron_variant | MODIFIER | c.999+137_999+142dup others(6): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 10/27 | INFO_REALIGN_3_PRIME | chr21 | 46116926 | |||||
chr21:46116926
|
T | TACACACA others(1): Show |
4 | a0001c0001t0001g0136a0001c0001t0001g0137a0001c0007t0003g0246others(1): Show | 4 | HG02897.hp2 HG02976.hp1 NA18612.hp1 others(1): Show |
intron_variant | MODIFIER | c.999+135_999+142dup others(8): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 10/27 | INFO_REALIGN_3_PRIME | chr21 | 46116926 | |||||
chr21:46116926
|
T | TACACACA others(3): Show |
11 | a0001c0007t0005g0060a0001c0007t0005g0061a0001c0007t0005g0066others(8): Show | 12 | HG00423.hp2 HG01516.hp1 HG01517.hp2 others(9): Show |
intron_variant | MODIFIER | c.999+133_999+142dup others(10): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 10/27 | INFO_REALIGN_3_PRIME | chr21 | 46116926 | |||||
chr21:46116926
|
T | TACACACA others(5): Show |
6 | a0001c0007t0005g0059a0003c0008t0003g0044a0003c0008t0003g0050others(3): Show | 6 | HG00597.hp1 HG02559.hp1 NA18941.hp2 others(3): Show |
intron_variant | MODIFIER | c.999+131_999+142dup others(12): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 10/27 | INFO_REALIGN_3_PRIME | chr21 | 46116926 | |||||
chr21:46116926
|
T | TACACACA others(9): Show |
1 | a0001c0001t0001g0135 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.999+127_999+142dup others(16): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 10/27 | INFO_REALIGN_3_PRIME | chr21 | 46116926 | |||||
chr21:46116926
|
TAC | T | 58 | a0001c0002t0001g0322a0001c0002t0002g0001a0001c0002t0002g0014others(55): Show | 70 | HG00140.hp2 HG00423.hp1 HG00544.hp2 others(67): Show |
intron_variant | MODIFIER | c.999+141_999+142del others(2): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 10/27 | INFO_REALIGN_3_PRIME | chr21 | 46116926 | |||||
chr21:46116926
|
TACAC | T | 4 | a0001c0002t0002g0286a0001c0002t0002g0317a0003c0032t0001g0240others(1): Show | 4 | HG02723.hp1 HG02818.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.999+139_999+142del others(4): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 10/27 | INFO_REALIGN_3_PRIME | chr21 | 46116926 | |||||
chr21:46116926
|
TACACACA others(11): Show |
T | 9 | a0001c0007t0001g0302a0002c0003t0001g0222a0002c0003t0001g0223others(6): Show | 9 | HG00639.hp2 HG02055.hp2 HG02083.hp2 others(6): Show |
intron_variant | MODIFIER | c.999+125_999+142del others(18): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 10/27 | INFO_REALIGN_3_PRIME | chr21 | 46116926 | |||||
chr21:46117130
|
G | A | 1 | a0001c0004t0001g0261 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.1000-270G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 10/27 | chr21 | 46117130 | ||||||
chr21:46117196
|
G | A | 2 | a0003c0032t0001g0240a0003c0032t0001g0241 | 2 | HG02818.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1000-204G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 10/27 | chr21 | 46117196 | ||||||
chr21:46117232
|
C | T | 15 | a0001c0007t0003g0246a0001c0007t0003g0247a0001c0007t0003g0263others(12): Show | 15 | HG01261.hp2 HG01891.hp1 HG02559.hp1 others(12): Show |
intron_variant | MODIFIER | c.1000-168C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 10/27 | chr21 | 46117232 | ||||||
chr21:46117235
|
C | T | 1 | a0004c0005t0004g0203 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1000-165C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 10/27 | chr21 | 46117235 | ||||||
chr21:46117295
|
G | A | 1 | a0004c0005t0004g0206 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.1000-105G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 10/27 | chr21 | 46117295 | ||||||
chr21:46117308
|
G | A | 4 | a0001c0001t0001g0011a0001c0001t0001g0043a0001c0001t0001g0105others(1): Show | 5 | HG00140.hp1 HG01069.hp2 HG01106.hp2 others(2): Show |
intron_variant | MODIFIER | c.1000-92G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 10/27 | chr21 | 46117308 | ||||||
chr21:46117511
|
C | T | 11 | a0001c0007t0003g0246a0001c0007t0003g0247a0001c0007t0003g0263others(8): Show | 11 | HG01261.hp2 HG01891.hp1 HG02559.hp2 others(8): Show |
intron_variant | MODIFIER | c.1053+58C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 11/27 | chr21 | 46117511 | ||||||
chr21:46117545
|
G | A | 3 | a0001c0002t0002g0277a0001c0002t0002g0278a0001c0002t0002g0324 | 3 | HG02922.hp2 HG03139.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.1053+92G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 11/27 | chr21 | 46117545 | ||||||
chr21:46117558
|
GCAGCCCA others(7): Show |
G | 2 | a0001c0002t0002g0270a0001c0049t0001g0158 | 2 | HG02698.hp2 NA18955.hp2 |
intron_variant | MODIFIER | c.1053+130_1053+143d others(16): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 11/27 | INFO_REALIGN_3_PRIME | chr21 | 46117558 | |||||
chr21:46117646
|
G | A | 15 | a0001c0002t0001g0322a0001c0002t0002g0123a0001c0002t0002g0255others(12): Show | 15 | HG00673.hp1 HG00735.hp1 HG00741.hp1 others(12): Show |
intron_variant | MODIFIER | c.1053+193G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 11/27 | chr21 | 46117646 | ||||||
chr21:46117752
|
T | TG | 286 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(283): Show | 307 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(304): Show |
intron_variant | MODIFIER | c.1054-119dupG | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 11/27 | INFO_REALIGN_3_PRIME | chr21 | 46117752 | |||||
chr21:46117774
|
A | C | 3 | a0001c0015t0002g0260a0001c0015t0002g0326a0001c0015t0002g0327 | 3 | HG01884.hp2 HG01978.hp1 HG02258.hp2 |
intron_variant | MODIFIER | c.1054-100A>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 11/27 | chr21 | 46117774 | ||||||
chr21:46117942
|
T | G | 1 | a0001c0004t0001g0131 | 1 | NA20129.hp1 | splice_region_variant&intron_variant | LOW | c.1116+6T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 12/27 | chr21 | 46117942 | ||||||
chr21:46117958
|
C | T | 5 | a0006c0028t0001g0096a0006c0028t0001g0098a0006c0056t0001g0097others(2): Show | 5 | HG02109.hp1 HG02647.hp2 HG02717.hp1 others(2): Show |
intron_variant | MODIFIER | c.1116+22C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 12/27 | chr21 | 46117958 | ||||||
chr21:46117968
|
G | A | 148 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(145): Show | 154 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(151): Show |
intron_variant | MODIFIER | c.1116+32G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 12/27 | chr21 | 46117968 | ||||||
chr21:46117975
|
C | T | 1 | a0003c0064t0001g0195 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.1116+39C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 12/27 | chr21 | 46117975 | ||||||
chr21:46118030
|
G | A | 3 | a0006c0028t0001g0096a0006c0028t0001g0098a0006c0056t0001g0097 | 3 | HG02109.hp1 HG02647.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.1116+94G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 12/27 | chr21 | 46118030 | ||||||
chr21:46118059
|
G | A | 2 | a0001c0001t0001g0107a0001c0001t0001g0122 | 2 | HG02622.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.1116+123G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 12/27 | chr21 | 46118059 | ||||||
chr21:46118086
|
G | A | 1 | a0001c0002t0002g0015 | 2 | NA18971.hp2 NA19012.hp1 |
intron_variant | MODIFIER | c.1116+150G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 12/27 | chr21 | 46118086 | ||||||
chr21:46118136
|
G | A | 260 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(257): Show | 281 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(278): Show |
intron_variant | MODIFIER | c.1116+200G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 12/27 | chr21 | 46118136 | ||||||
chr21:46118157
|
G | A | 236 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(233): Show | 257 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(254): Show |
intron_variant | MODIFIER | c.1116+221G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 12/27 | chr21 | 46118157 | ||||||
chr21:46118196
|
G | A | 1 | a0001c0002t0002g0293 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.1116+260G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 12/27 | chr21 | 46118196 | ||||||
chr21:46118232
|
G | A | 1 | a0001c0002t0002g0290 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.1116+296G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 12/27 | chr21 | 46118232 | ||||||
chr21:46118281
|
C | T | 1 | a0002c0003t0001g0056 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.1117-333C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 12/27 | chr21 | 46118281 | ||||||
chr21:46118282
|
G | A | 1 | a0004c0005t0004g0203 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1117-332G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 12/27 | chr21 | 46118282 | ||||||
chr21:46118335
|
G | A | 7 | a0001c0001t0001g0036a0001c0001t0001g0107a0001c0001t0001g0122others(4): Show | 7 | HG00733.hp2 HG01169.hp2 HG01175.hp1 others(4): Show |
intron_variant | MODIFIER | c.1117-279G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 12/27 | chr21 | 46118335 | ||||||
chr21:46118396
|
A | T | 287 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(284): Show | 308 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(305): Show |
intron_variant | MODIFIER | c.1117-218A>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 12/27 | chr21 | 46118396 | ||||||
chr21:46118410
|
C | T | 24 | a0003c0010t0001g0189a0003c0010t0001g0190a0003c0010t0001g0196others(21): Show | 24 | HG00438.hp2 HG00639.hp1 HG01074.hp1 others(21): Show |
intron_variant | MODIFIER | c.1117-204C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 12/27 | chr21 | 46118410 | ||||||
chr21:46118411
|
G | A | 6 | a0001c0007t0003g0246a0001c0007t0003g0247a0001c0007t0003g0263others(3): Show | 6 | HG01261.hp2 HG02559.hp2 HG02886.hp2 others(3): Show |
intron_variant | MODIFIER | c.1117-203G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 12/27 | chr21 | 46118411 | ||||||
chr21:46118525
|
C | T | 9 | a0001c0044t0003g0197a0003c0008t0003g0044a0003c0008t0003g0050others(6): Show | 9 | HG00423.hp2 HG00597.hp1 HG01243.hp1 others(6): Show |
intron_variant | MODIFIER | c.1117-89C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 12/27 | chr21 | 46118525 | ||||||
chr21:46118530
|
C | T | 1 | a0002c0003t0001g0077 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.1117-84C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 12/27 | chr21 | 46118530 | ||||||
chr21:46118558
|
C | G | 3 | a0001c0015t0002g0260a0001c0015t0002g0326a0001c0015t0002g0327 | 3 | HG01884.hp2 HG01978.hp1 HG02258.hp2 |
intron_variant | MODIFIER | c.1117-56C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 12/27 | chr21 | 46118558 | ||||||
chr21:46118564
|
C | CCCCCTTC others(13): Show |
1 | a0002c0012t0001g0030 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1117-48_1117-29dup others(20): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 12/27 | INFO_REALIGN_3_PRIME | chr21 | 46118564 | |||||
chr21:46118707
|
G | A | 1 | a0004c0005t0001g0210 | 1 | NA18969.hp2 | intron_variant | MODIFIER | c.1179+31G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 13/27 | chr21 | 46118707 | ||||||
chr21:46118758
|
C | T | 1 | a0002c0012t0007g0095 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.1179+82C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 13/27 | chr21 | 46118758 | ||||||
chr21:46118777
|
G | T | 121 | a0001c0002t0001g0322a0001c0002t0002g0001a0001c0002t0002g0004others(118): Show | 136 | HG00140.hp2 HG00423.hp1 HG00423.hp2 others(133): Show |
intron_variant | MODIFIER | c.1179+101G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 13/27 | chr21 | 46118777 | ||||||
chr21:46118971
|
C | T | 1 | a0001c0001t0001g0113 | 1 | NA19060.hp2 | intron_variant | MODIFIER | c.1180-59C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 13/27 | chr21 | 46118971 | ||||||
chr21:46118972
|
G | A | 1 | a0001c0048t0001g0144 | 1 | HG01516.hp2 | intron_variant | MODIFIER | c.1180-58G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 13/27 | chr21 | 46118972 | ||||||
chr21:46119151
|
C | T | 6 | a0001c0011t0001g0106a0001c0011t0001g0111a0001c0011t0001g0115others(3): Show | 6 | HG01257.hp1 HG01258.hp2 HG01891.hp2 others(3): Show |
intron_variant | MODIFIER | c.1269+32C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 14/27 | chr21 | 46119151 | ||||||
chr21:46119212
|
G | A | 1 | a0002c0003t0001g0083 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.1269+93G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 14/27 | chr21 | 46119212 | ||||||
chr21:46119293
|
A | C | 3 | a0002c0003t0001g0227a0002c0003t0001g0228a0002c0062t0001g0226 | 3 | HG02809.hp1 HG02818.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.1269+174A>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 14/27 | chr21 | 46119293 | ||||||
chr21:46119332
|
T | C | 1 | a0001c0002t0002g0309 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.1269+213T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 14/27 | chr21 | 46119332 | ||||||
chr21:46119392
|
C | T | 2 | a0001c0002t0002g0123a0001c0002t0002g0292 | 2 | HG00741.hp1 HG01074.hp2 |
intron_variant | MODIFIER | c.1269+273C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 14/27 | chr21 | 46119392 | ||||||
chr21:46119455
|
G | A | 1 | a0014c0051t0001g0225 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.1270-333G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 14/27 | chr21 | 46119455 | ||||||
chr21:46119566
|
C | T | 1 | a0001c0007t0005g0059 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.1270-222C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 14/27 | chr21 | 46119566 | ||||||
chr21:46119598
|
G | A | 1 | a0003c0016t0001g0231 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.1270-190G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 14/27 | chr21 | 46119598 | ||||||
chr21:46119619
|
T | C | 125 | a0001c0001t0001g0049a0001c0001t0001g0108a0001c0001t0001g0150others(122): Show | 140 | HG00140.hp2 HG00423.hp1 HG00423.hp2 others(137): Show |
intron_variant | MODIFIER | c.1270-169T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 14/27 | chr21 | 46119619 | ||||||
chr21:46119644
|
G | C | 2 | a0001c0018t0001g0169a0001c0018t0001g0187 | 2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.1270-144G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 14/27 | chr21 | 46119644 | ||||||
chr21:46119876
|
A | G | 288 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(285): Show | 309 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(306): Show |
intron_variant | MODIFIER | c.1332+26A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | chr21 | 46119876 | ||||||
chr21:46119897
|
T | C | 1 | a0002c0061t0001g0063 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1332+47T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | chr21 | 46119897 | ||||||
chr21:46119970
|
A | C | 9 | a0001c0001t0001g0036a0001c0001t0001g0107a0001c0001t0001g0122others(6): Show | 9 | HG00733.hp2 HG01169.hp2 HG01175.hp1 others(6): Show |
intron_variant | MODIFIER | c.1332+120A>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | chr21 | 46119970 | ||||||
chr21:46119982
|
G | A | 1 | a0002c0003t0001g0024 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.1332+132G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | chr21 | 46119982 | ||||||
chr21:46120064
|
G | T | 1 | a0001c0002t0002g0299 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.1332+214G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | chr21 | 46120064 | ||||||
chr21:46120093
|
G | C | 1 | a0001c0049t0001g0158 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.1332+243G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | chr21 | 46120093 | ||||||
chr21:46120094
|
G | C | 1 | a0001c0049t0001g0158 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.1332+244G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | chr21 | 46120094 | ||||||
chr21:46120109
|
A | G | 7 | a0001c0049t0001g0158a0003c0008t0003g0044a0003c0008t0003g0050others(4): Show | 7 | HG00423.hp2 HG00597.hp1 HG02698.hp2 others(4): Show |
intron_variant | MODIFIER | c.1332+259A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | chr21 | 46120109 | ||||||
chr21:46120121
|
C | G | 141 | a0001c0001t0001g0009a0001c0001t0001g0011a0001c0001t0001g0043others(138): Show | 157 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(154): Show |
intron_variant | MODIFIER | c.1332+271C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | chr21 | 46120121 | ||||||
chr21:46120122
|
GGCC | G | 140 | a0001c0001t0001g0009a0001c0001t0001g0011a0001c0001t0001g0043others(137): Show | 156 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(153): Show |
intron_variant | MODIFIER | c.1332+273_1332+275d others(5): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | chr21 | 46120122 | ||||||
chr21:46120123
|
G | C | 1 | a0001c0006t0001g0188 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.1332+273G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | chr21 | 46120123 | ||||||
chr21:46120125
|
C | CACTGAGG others(78): Show |
1 | a0001c0006t0001g0188 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.1332+275_1332+276i others(87): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | chr21 | 46120125 | ||||||
chr21:46120125
|
C | CCCACTGA others(50): Show |
1 | a0001c0001t0001g0109 | 1 | NA18948.hp2 | intron_variant | MODIFIER | c.1332+277_1332+278i others(59): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr21 | 46120125 | |||||
chr21:46120125
|
C | CCCCACTG others(21): Show |
2 | a0003c0032t0001g0240a0003c0032t0001g0241 | 2 | HG02818.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1332+289_1332+290i others(30): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr21 | 46120125 | |||||
chr21:46120125
|
C | CCCCACTG others(51): Show |
8 | a0001c0004t0001g0248a0001c0044t0003g0197a0003c0008t0003g0045others(5): Show | 9 | HG01243.hp1 HG01516.hp1 HG01517.hp2 others(6): Show |
intron_variant | MODIFIER | c.1332+289_1332+290i others(60): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr21 | 46120125 | |||||
chr21:46120125
|
C | CCCCACTG others(50): Show |
105 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(102): Show | 110 | HG00280.hp2 HG00438.hp2 HG00558.hp1 others(107): Show |
intron_variant | MODIFIER | c.1332+285_1332+286i others(59): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr21 | 46120125 | |||||
chr21:46120136
|
C | T | 31 | a0001c0001t0001g0008a0001c0001t0001g0049a0001c0001t0001g0058others(28): Show | 31 | HG00323.hp1 HG00558.hp2 HG01074.hp1 others(28): Show |
intron_variant | MODIFIER | c.1332+286C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | chr21 | 46120136 | ||||||
chr21:46120140
|
T | G | 23 | a0001c0001t0001g0008a0001c0001t0001g0049a0001c0001t0001g0058others(20): Show | 23 | HG00323.hp1 HG01074.hp1 HG01109.hp1 others(20): Show |
intron_variant | MODIFIER | c.1332+290T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | chr21 | 46120140 | ||||||
chr21:46120143
|
T | C | 23 | a0001c0001t0001g0008a0001c0001t0001g0049a0001c0001t0001g0058others(20): Show | 23 | HG00323.hp1 HG01074.hp1 HG01109.hp1 others(20): Show |
intron_variant | MODIFIER | c.1332+293T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | chr21 | 46120143 | ||||||
chr21:46120144
|
A | AC | 12 | a0001c0001t0001g0008a0001c0001t0001g0049a0001c0001t0001g0058others(9): Show | 12 | HG00323.hp1 HG01168.hp2 HG01255.hp1 others(9): Show |
intron_variant | MODIFIER | c.1332+299dupC | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr21 | 46120144 | |||||
chr21:46120151
|
G | GCC | 11 | a0001c0001t0001g0008a0001c0001t0001g0049a0001c0001t0001g0058others(8): Show | 11 | HG00323.hp1 HG01168.hp2 HG01255.hp1 others(8): Show |
intron_variant | MODIFIER | c.1332+303_1332+304d others(4): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr21 | 46120151 | |||||
chr21:46120164
|
T | C | 1 | a0001c0004t0001g0174 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.1332+314T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | chr21 | 46120164 | ||||||
chr21:46120185
|
G | T | 1 | a0002c0013t0001g0219 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.1333-330G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | chr21 | 46120185 | ||||||
chr21:46120251
|
G | A | 26 | a0001c0007t0001g0302a0001c0007t0003g0246a0001c0007t0003g0247others(23): Show | 26 | HG00639.hp2 HG01261.hp2 HG01891.hp1 others(23): Show |
intron_variant | MODIFIER | c.1333-264G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | chr21 | 46120251 | ||||||
chr21:46120272
|
C | T | 132 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(129): Show | 138 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(135): Show |
intron_variant | MODIFIER | c.1333-243C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | chr21 | 46120272 | ||||||
chr21:46120273
|
G | A | 1 | a0001c0002t0002g0309 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.1333-242G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | chr21 | 46120273 | ||||||
chr21:46120286
|
C | T | 215 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(212): Show | 235 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(232): Show |
intron_variant | MODIFIER | c.1333-229C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | chr21 | 46120286 | ||||||
chr21:46120295
|
G | A | 2 | a0001c0001t0001g0116a0001c0001t0001g0153 | 2 | NA18951.hp2 NA19060.hp1 |
intron_variant | MODIFIER | c.1333-220G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | chr21 | 46120295 | ||||||
chr21:46120317
|
A | C | 304 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(301): Show | 325 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(322): Show |
intron_variant | MODIFIER | c.1333-198A>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | chr21 | 46120317 | ||||||
chr21:46120320
|
G | T | 2 | a0001c0026t0005g0233a0001c0026t0005g0234 | 2 | HG01891.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.1333-195G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | chr21 | 46120320 | ||||||
chr21:46120346
|
C | T | 129 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(126): Show | 135 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(132): Show |
intron_variant | MODIFIER | c.1333-169C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | chr21 | 46120346 | ||||||
chr21:46120347
|
G | A | 2 | a0002c0003t0001g0064a0002c0003t0001g0078 | 2 | HG03669.hp1 HG03704.hp1 |
intron_variant | MODIFIER | c.1333-168G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | chr21 | 46120347 | ||||||
chr21:46120383
|
G | A | 1 | a0002c0012t0001g0030 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1333-132G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | chr21 | 46120383 | ||||||
chr21:46120435
|
C | T | 13 | a0001c0044t0003g0197a0003c0008t0003g0044a0003c0008t0003g0045others(10): Show | 14 | HG00423.hp2 HG00597.hp1 HG01243.hp1 others(11): Show |
intron_variant | MODIFIER | c.1333-80C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | chr21 | 46120435 | ||||||
chr21:46120507
|
T | C | 94 | a0001c0001t0001g0170a0001c0001t0001g0184a0001c0002t0001g0322others(91): Show | 109 | HG00140.hp2 HG00423.hp1 HG00423.hp2 others(106): Show |
splice_region_variant&intron_variant | LOW | c.1333-8T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | chr21 | 46120507 | ||||||
chr21:46120635
|
GCTGCACC others(20): Show |
G | 2 | a0003c0010t0001g0190a0003c0016t0001g0231 | 2 | HG02615.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.1395+77_1395+103de others(28): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 16/27 | INFO_REALIGN_3_PRIME | chr21 | 46120635 | |||||
chr21:46120659
|
G | A | 100 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(97): Show | 105 | HG00140.hp1 HG00280.hp1 HG00558.hp1 others(102): Show |
intron_variant | MODIFIER | c.1395+82G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 16/27 | chr21 | 46120659 | ||||||
chr21:46120662
|
ACTGCACC others(25): Show |
A | 2 | a0001c0023t0001g0250a0001c0023t0001g0251 | 2 | HG02630.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.1395+101_1395+132d others(34): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 16/27 | INFO_REALIGN_3_PRIME | chr21 | 46120662 | |||||
chr21:46120746
|
G | A | 1 | a0001c0001t0001g0100 | 1 | NA18943.hp2 | intron_variant | MODIFIER | c.1395+169G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 16/27 | chr21 | 46120746 | ||||||
chr21:46120811
|
G | A | 135 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(132): Show | 141 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(138): Show |
intron_variant | MODIFIER | c.1395+234G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 16/27 | chr21 | 46120811 | ||||||
chr21:46120928
|
G | C | 21 | a0001c0009t0001g0021a0001c0009t0001g0253a0001c0009t0001g0259others(18): Show | 23 | HG00140.hp2 HG00423.hp2 HG00597.hp1 others(20): Show |
intron_variant | MODIFIER | c.1396-133G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 16/27 | chr21 | 46120928 | ||||||
chr21:46120958
|
C | T | 4 | a0001c0007t0005g0059a0001c0007t0005g0060a0001c0007t0005g0061others(1): Show | 4 | HG02559.hp1 HG02615.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.1396-103C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 16/27 | chr21 | 46120958 | ||||||
chr21:46120971
|
A | C | 2 | a0001c0001t0001g0041a0001c0001t0001g0109 | 2 | NA18948.hp2 NA18966.hp1 |
intron_variant | MODIFIER | c.1396-90A>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 16/27 | chr21 | 46120971 | ||||||
chr21:46120999
|
C | T | 2 | a0001c0023t0001g0250a0001c0023t0001g0251 | 2 | HG02630.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.1396-62C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 16/27 | chr21 | 46120999 | ||||||
chr21:46121192
|
C | T | 1 | a0002c0055t0001g0048 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.1458+69C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 17/27 | chr21 | 46121192 | ||||||
chr21:46121205
|
G | A | 1 | a0004c0005t0001g0204 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.1458+82G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 17/27 | chr21 | 46121205 | ||||||
chr21:46121348
|
G | A | 1 | a0001c0002t0002g0269 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.1459-208G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 17/27 | chr21 | 46121348 | ||||||
chr21:46121379
|
C | T | 1 | a0001c0007t0001g0302 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.1459-177C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 17/27 | chr21 | 46121379 | ||||||
chr21:46121388
|
A | G | 22 | a0001c0004t0001g0174a0001c0009t0001g0021a0001c0009t0001g0253others(19): Show | 24 | HG00140.hp2 HG00423.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.1459-168A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 17/27 | chr21 | 46121388 | ||||||
chr21:46121393
|
G | A | 1 | a0001c0025t0001g0232 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1459-163G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 17/27 | chr21 | 46121393 | ||||||
chr21:46121450
|
C | T | 1 | a0014c0051t0001g0225 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.1459-106C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 17/27 | chr21 | 46121450 | ||||||
chr21:46121480
|
C | T | 1 | a0001c0047t0001g0245 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.1459-76C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 17/27 | chr21 | 46121480 | ||||||
chr21:46121639
|
A | G | 21 | a0001c0009t0001g0021a0001c0009t0001g0253a0001c0009t0001g0259others(18): Show | 23 | HG00140.hp2 HG00423.hp2 HG00597.hp1 others(20): Show |
intron_variant | MODIFIER | c.1521+21A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 18/27 | chr21 | 46121639 | ||||||
chr21:46121653
|
G | A | 1 | a0001c0001t0001g0179 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.1521+35G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 18/27 | chr21 | 46121653 | ||||||
chr21:46121775
|
C | T | 1 | a0001c0001t0001g0155 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.1521+157C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 18/27 | chr21 | 46121775 | ||||||
chr21:46121790
|
C | A | 1 | a0001c0025t0001g0232 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1521+172C>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 18/27 | chr21 | 46121790 | ||||||
chr21:46121829
|
C | T | 1 | a0002c0012t0001g0026 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.1521+211C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 18/27 | chr21 | 46121829 | ||||||
chr21:46121830
|
A | G | 341 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(338): Show | 363 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(360): Show |
intron_variant | MODIFIER | c.1521+212A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 18/27 | chr21 | 46121830 | ||||||
chr21:46121893
|
G | A | 2 | a0001c0026t0005g0233a0001c0026t0005g0234 | 2 | HG01891.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.1522-215G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 18/27 | chr21 | 46121893 | ||||||
chr21:46121909
|
C | CT | 49 | a0001c0007t0001g0302a0001c0007t0003g0246a0001c0007t0003g0247others(46): Show | 51 | HG00140.hp2 HG00423.hp2 HG00597.hp1 others(48): Show |
intron_variant | MODIFIER | c.1522-199_1522-198i others(3): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 18/27 | chr21 | 46121909 | ||||||
chr21:46121972
|
C | T | 1 | a0001c0002t0002g0299 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.1522-136C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 18/27 | chr21 | 46121972 | ||||||
chr21:46122072
|
T | C | 25 | a0001c0009t0001g0021a0001c0009t0001g0253a0001c0009t0001g0259others(22): Show | 27 | HG00140.hp2 HG00423.hp2 HG00597.hp1 others(24): Show |
intron_variant | MODIFIER | c.1522-36T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 18/27 | chr21 | 46122072 | ||||||
chr21:46122183
|
C | T | 1 | a0001c0001t0001g0049 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.1572+25C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 19/27 | chr21 | 46122183 | ||||||
chr21:46122306
|
C | T | 135 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(132): Show | 141 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(138): Show |
intron_variant | MODIFIER | c.1572+148C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 19/27 | chr21 | 46122306 | ||||||
chr21:46122384
|
C | T | 1 | a0001c0001t0001g0135 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.1573-112C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 19/27 | chr21 | 46122384 | ||||||
chr21:46122385
|
C | G | 1 | a0001c0001t0001g0135 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.1573-111C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 19/27 | chr21 | 46122385 | ||||||
chr21:46122425
|
A | C | 1 | a0006c0056t0001g0097 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.1573-71A>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 19/27 | chr21 | 46122425 | ||||||
chr21:46122464
|
C | T | 13 | a0001c0044t0003g0197a0003c0008t0003g0044a0003c0008t0003g0045others(10): Show | 14 | HG00423.hp2 HG00597.hp1 HG01243.hp1 others(11): Show |
intron_variant | MODIFIER | c.1573-32C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 19/27 | chr21 | 46122464 | ||||||
chr21:46122703
|
C | G | 2 | a0001c0022t0001g0236a0001c0022t0001g0254 | 2 | HG01243.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.1608+172C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 20/27 | chr21 | 46122703 | ||||||
chr21:46122712
|
G | A | 15 | a0003c0010t0001g0207a0003c0010t0001g0209a0003c0064t0001g0195others(12): Show | 15 | HG00438.hp2 HG00639.hp1 HG01074.hp1 others(12): Show |
intron_variant | MODIFIER | c.1609-163G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 20/27 | chr21 | 46122712 | ||||||
chr21:46122713
|
TCCCTTTT others(16): Show |
T | 1 | a0001c0001t0001g0038 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1609-161_1609-139d others(25): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 20/27 | chr21 | 46122713 | ||||||
chr21:46122720
|
T | C | 21 | a0001c0009t0001g0021a0001c0009t0001g0253a0001c0009t0001g0259others(18): Show | 23 | HG00140.hp2 HG00423.hp2 HG00597.hp1 others(20): Show |
intron_variant | MODIFIER | c.1609-155T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 20/27 | chr21 | 46122720 | ||||||
chr21:46122740
|
G | GC | 339 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(336): Show | 361 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(358): Show |
intron_variant | MODIFIER | c.1609-134dupC | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr21 | 46122740 | |||||
chr21:46122759
|
G | T | 1 | a0002c0003t0001g0083 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.1609-116G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 20/27 | chr21 | 46122759 | ||||||
chr21:46122760
|
C | T | 1 | a0002c0003t0001g0083 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.1609-115C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 20/27 | chr21 | 46122760 | ||||||
chr21:46122770
|
A | G | 1 | a0002c0003t0001g0073 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.1609-105A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 20/27 | chr21 | 46122770 | ||||||
chr21:46122822
|
C | T | 3 | a0001c0002t0002g0020a0001c0002t0002g0316a0001c0002t0002g0319 | 4 | NA18943.hp1 NA18965.hp2 NA19065.hp1 others(1): Show |
intron_variant | MODIFIER | c.1609-53C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 20/27 | chr21 | 46122822 | ||||||
chr21:46122839
|
C | T | 1 | a0001c0002t0008g0017 | 2 | HG03491.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.1609-36C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 20/27 | chr21 | 46122839 | ||||||
chr21:46122865
|
C | T | 21 | a0001c0009t0001g0021a0001c0009t0001g0253a0001c0009t0001g0259others(18): Show | 23 | HG00140.hp2 HG00423.hp2 HG00597.hp1 others(20): Show |
intron_variant | MODIFIER | c.1609-10C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 20/27 | chr21 | 46122865 | ||||||
chr21:46122947
|
A | G | 304 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(301): Show | 325 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(322): Show |
intron_variant | MODIFIER | c.1671+10A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46122947 | ||||||
chr21:46122955
|
G | A | 1 | a0001c0002t0002g0321 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.1671+18G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46122955 | ||||||
chr21:46123117
|
C | T | 30 | a0001c0007t0001g0302a0001c0007t0003g0246a0001c0007t0003g0247others(27): Show | 30 | HG00639.hp2 HG01261.hp2 HG01884.hp1 others(27): Show |
intron_variant | MODIFIER | c.1671+180C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46123117 | ||||||
chr21:46123129
|
G | A | 1 | a0002c0003t0001g0057 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.1671+192G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46123129 | ||||||
chr21:46123177
|
AAGGGTCC others(72): Show |
A | 30 | a0001c0007t0001g0302a0001c0007t0003g0246a0001c0007t0003g0247others(27): Show | 30 | HG00639.hp2 HG01261.hp2 HG01884.hp1 others(27): Show |
intron_variant | MODIFIER | c.1671+254_1671+332d others(81): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | 46123177 | |||||
chr21:46123273
|
C | T | 1 | a0002c0055t0001g0048 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.1671+336C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46123273 | ||||||
chr21:46123290
|
C | A | 30 | a0001c0007t0001g0302a0001c0007t0003g0246a0001c0007t0003g0247others(27): Show | 30 | HG00639.hp2 HG01261.hp2 HG01884.hp1 others(27): Show |
intron_variant | MODIFIER | c.1671+353C>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46123290 | ||||||
chr21:46123372
|
T | C | 287 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(284): Show | 307 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(304): Show |
intron_variant | MODIFIER | c.1671+435T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46123372 | ||||||
chr21:46123382
|
A | G | 1 | a0001c0015t0002g0260 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.1671+445A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46123382 | ||||||
chr21:46123465
|
G | A | 2 | a0001c0021t0006g0145a0001c0021t0006g0176 | 2 | HG01069.hp1 HG01071.hp2 |
intron_variant | MODIFIER | c.1671+528G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46123465 | ||||||
chr21:46123534
|
G | A | 3 | a0001c0001t0001g0154a0001c0001t0001g0161a0001c0001t0001g0181 | 3 | NA18941.hp1 NA18983.hp2 NA19055.hp1 |
intron_variant | MODIFIER | c.1671+597G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46123534 | ||||||
chr21:46123544
|
TGGATGGG others(1): Show |
T | 2 | a0003c0008t0003g0045a0008c0027t0003g0013 | 3 | HG01516.hp1 HG01517.hp2 HG03239.hp2 |
intron_variant | MODIFIER | c.1671+615_1671+622d others(10): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | 46123544 | |||||
chr21:46123628
|
A | AGTGG | 21 | a0001c0009t0001g0021a0001c0009t0001g0253a0001c0009t0001g0259others(18): Show | 23 | HG00140.hp2 HG00423.hp2 HG00597.hp1 others(20): Show |
intron_variant | MODIFIER | c.1671+700_1671+703d others(6): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | 46123628 | |||||
chr21:46123655
|
A | ACATGGGT others(4): Show |
1 | a0001c0002t0002g0276 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.1671+719_1671+729d others(13): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | 46123655 | |||||
chr21:46123692
|
G | A | 4 | a0002c0003t0001g0071a0003c0010t0001g0190a0003c0016t0001g0231others(1): Show | 4 | HG02615.hp1 HG02922.hp1 HG06807.hp2 others(1): Show |
intron_variant | MODIFIER | c.1671+755G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46123692 | ||||||
chr21:46123695
|
A | G | 285 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(282): Show | 306 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(303): Show |
intron_variant | MODIFIER | c.1671+758A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46123695 | ||||||
chr21:46123697
|
G | A | 285 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(282): Show | 306 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(303): Show |
intron_variant | MODIFIER | c.1671+760G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46123697 | ||||||
chr21:46123700
|
G | GATGGATG others(1): Show |
284 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(281): Show | 305 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(302): Show |
intron_variant | MODIFIER | c.1671+763_1671+764i others(10): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46123700 | ||||||
chr21:46123723
|
G | A | 8 | a0001c0007t0003g0246a0001c0007t0003g0247a0001c0007t0003g0263others(5): Show | 8 | HG01261.hp2 HG02257.hp2 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.1671+786G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46123723 | ||||||
chr21:46123738
|
TGATGGAT others(21): Show |
T | 13 | a0001c0044t0003g0197a0003c0008t0003g0044a0003c0008t0003g0045others(10): Show | 14 | HG00423.hp2 HG00597.hp1 HG01243.hp1 others(11): Show |
intron_variant | MODIFIER | c.1671+811_1671+838d others(30): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | 46123738 | |||||
chr21:46123746
|
G | C | 3 | a0001c0001t0001g0100a0001c0001t0001g0101a0001c0036t0001g0035 | 3 | HG02056.hp2 NA18943.hp2 NA19066.hp1 |
intron_variant | MODIFIER | c.1671+809G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46123746 | ||||||
chr21:46123767
|
GATGGATG others(17): Show |
G | 1 | a0001c0006t0001g0165 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.1671+841_1672-850d others(26): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | 46123767 | |||||
chr21:46123778
|
GAGTGGGT others(17): Show |
G | 2 | a0001c0026t0005g0233a0001c0026t0005g0234 | 2 | HG01891.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.1671+850_1672-841d others(26): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | 46123778 | |||||
chr21:46123824
|
A | ATGGGTGG others(1): Show |
90 | a0001c0002t0001g0322a0001c0002t0002g0001a0001c0002t0002g0004others(87): Show | 103 | HG00423.hp1 HG00544.hp2 HG00597.hp2 others(100): Show |
intron_variant | MODIFIER | c.1672-821_1672-820i others(10): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | 46123824 | |||||
chr21:46123868
|
C | CAGATGGA others(9): Show |
128 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(125): Show | 134 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(131): Show |
intron_variant | MODIFIER | c.1672-775_1672-774i others(18): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | 46123868 | |||||
chr21:46123869
|
AGATG | A | 5 | a0001c0002t0001g0322a0001c0002t0002g0123a0001c0002t0002g0290others(2): Show | 5 | HG00735.hp1 HG00741.hp1 HG01074.hp2 others(2): Show |
intron_variant | MODIFIER | c.1672-772_1672-769d others(6): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | 46123869 | |||||
chr21:46123871
|
A | ATGGATAA others(9): Show |
22 | a0001c0009t0001g0021a0001c0009t0001g0253a0001c0009t0001g0259others(19): Show | 24 | HG00140.hp2 HG00423.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.1672-775_1672-774i others(18): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | 46123871 | |||||
chr21:46123877
|
G | A | 39 | a0001c0001t0001g0038a0001c0001t0001g0109a0001c0001t0001g0135others(36): Show | 39 | HG00609.hp1 HG01099.hp1 HG01261.hp2 others(36): Show |
intron_variant | MODIFIER | c.1672-774G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46123877 | ||||||
chr21:46123878
|
G | A | 39 | a0001c0001t0001g0038a0001c0001t0001g0109a0001c0001t0001g0135others(36): Show | 39 | HG00609.hp1 HG01099.hp1 HG01261.hp2 others(36): Show |
intron_variant | MODIFIER | c.1672-773G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46123878 | ||||||
chr21:46123884
|
TG | T | 39 | a0001c0001t0001g0038a0001c0001t0001g0109a0001c0001t0001g0135others(36): Show | 39 | HG00609.hp1 HG01099.hp1 HG01261.hp2 others(36): Show |
intron_variant | MODIFIER | c.1672-766delG | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46123884 | ||||||
chr21:46123887
|
GTCA | G | 39 | a0001c0001t0001g0038a0001c0001t0001g0109a0001c0001t0001g0135others(36): Show | 39 | HG00609.hp1 HG01099.hp1 HG01261.hp2 others(36): Show |
intron_variant | MODIFIER | c.1672-763_1672-761d others(5): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46123887 | ||||||
chr21:46123891
|
G | A | 39 | a0001c0001t0001g0038a0001c0001t0001g0109a0001c0001t0001g0135others(36): Show | 39 | HG00609.hp1 HG01099.hp1 HG01261.hp2 others(36): Show |
intron_variant | MODIFIER | c.1672-760G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46123891 | ||||||
chr21:46123897
|
A | G | 39 | a0001c0001t0001g0038a0001c0001t0001g0109a0001c0001t0001g0135others(36): Show | 39 | HG00609.hp1 HG01099.hp1 HG01261.hp2 others(36): Show |
intron_variant | MODIFIER | c.1672-754A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46123897 | ||||||
chr21:46123900
|
TGGATGGG others(12): Show |
T | 128 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(125): Show | 134 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(131): Show |
intron_variant | MODIFIER | c.1672-744_1672-726d others(21): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | 46123900 | |||||
chr21:46123903
|
A | G | 39 | a0001c0001t0001g0038a0001c0001t0001g0109a0001c0001t0001g0135others(36): Show | 39 | HG00609.hp1 HG01099.hp1 HG01261.hp2 others(36): Show |
intron_variant | MODIFIER | c.1672-748A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46123903 | ||||||
chr21:46123906
|
G | A | 39 | a0001c0001t0001g0038a0001c0001t0001g0109a0001c0001t0001g0135others(36): Show | 39 | HG00609.hp1 HG01099.hp1 HG01261.hp2 others(36): Show |
intron_variant | MODIFIER | c.1672-745G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46123906 | ||||||
chr21:46123909
|
G | C | 39 | a0001c0001t0001g0038a0001c0001t0001g0109a0001c0001t0001g0135others(36): Show | 39 | HG00609.hp1 HG01099.hp1 HG01261.hp2 others(36): Show |
intron_variant | MODIFIER | c.1672-742G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46123909 | ||||||
chr21:46123910
|
G | A | 39 | a0001c0001t0001g0038a0001c0001t0001g0109a0001c0001t0001g0135others(36): Show | 39 | HG00609.hp1 HG01099.hp1 HG01261.hp2 others(36): Show |
intron_variant | MODIFIER | c.1672-741G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46123910 | ||||||
chr21:46123919
|
A | AT | 38 | a0001c0001t0001g0038a0001c0001t0001g0109a0001c0001t0001g0135others(35): Show | 38 | HG01099.hp1 HG01261.hp2 HG01346.hp1 others(35): Show |
intron_variant | MODIFIER | c.1672-732_1672-731i others(3): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46123919 | ||||||
chr21:46123940
|
G | A | 21 | a0001c0009t0001g0021a0001c0009t0001g0253a0001c0009t0001g0259others(18): Show | 23 | HG00140.hp2 HG00423.hp2 HG00597.hp1 others(20): Show |
intron_variant | MODIFIER | c.1672-711G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46123940 | ||||||
chr21:46123959
|
AGATGGGT others(17): Show |
A | 5 | a0001c0007t0003g0246a0001c0007t0003g0247a0001c0025t0001g0235others(2): Show | 5 | HG01261.hp2 HG02257.hp2 HG02559.hp2 others(2): Show |
intron_variant | MODIFIER | c.1672-683_1672-660d others(26): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | 46123959 | |||||
chr21:46123968
|
TGTGA | T | 13 | a0001c0044t0003g0197a0003c0008t0003g0044a0003c0008t0003g0045others(10): Show | 14 | HG00423.hp2 HG00597.hp1 HG01243.hp1 others(11): Show |
intron_variant | MODIFIER | c.1672-675_1672-672d others(6): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | 46123968 | |||||
chr21:46123980
|
G | A | 3 | a0001c0002t0002g0275a0001c0002t0002g0308a0003c0016t0002g0023 | 3 | HG00597.hp2 HG00673.hp1 HG02080.hp1 |
intron_variant | MODIFIER | c.1672-671G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46123980 | ||||||
chr21:46124003
|
G | A | 1 | a0001c0001t0001g0040 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.1672-648G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124003 | ||||||
chr21:46124017
|
ATGAGTGG others(16): Show |
A | 78 | a0001c0002t0001g0322a0001c0002t0002g0001a0001c0002t0002g0004others(75): Show | 91 | HG00423.hp1 HG00544.hp2 HG00597.hp2 others(88): Show |
intron_variant | MODIFIER | c.1672-631_1672-609d others(25): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | 46124017 | |||||
chr21:46124035
|
G | A | 2 | a0001c0004t0001g0127a0001c0004t0001g0142 | 2 | HG00280.hp2 HG00323.hp1 |
intron_variant | MODIFIER | c.1672-616G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124035 | ||||||
chr21:46124058
|
G | A | 1 | a0001c0049t0001g0158 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.1672-593G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124058 | ||||||
chr21:46124141
|
A | G | 23 | a0001c0018t0001g0169a0001c0018t0001g0187a0003c0010t0001g0189others(20): Show | 23 | HG00438.hp2 HG00639.hp1 HG01074.hp1 others(20): Show |
intron_variant | MODIFIER | c.1672-510A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124141 | ||||||
chr21:46124152
|
T | G | 1 | a0001c0001t0001g0038 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-499T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124152 | ||||||
chr21:46124169
|
G | T | 1 | a0001c0001t0001g0038 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-482G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124169 | ||||||
chr21:46124176
|
G | C | 1 | a0001c0001t0001g0038 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-475G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124176 | ||||||
chr21:46124178
|
ATGGGTGG others(52): Show |
A | 7 | a0003c0008t0003g0044a0003c0008t0003g0050a0003c0008t0003g0191others(4): Show | 7 | HG00423.hp2 HG00597.hp1 NA18941.hp2 others(4): Show |
intron_variant | MODIFIER | c.1672-462_1672-404d others(61): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | 46124178 | |||||
chr21:46124188
|
G | T | 1 | a0001c0001t0001g0038 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-463G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124188 | ||||||
chr21:46124190
|
A | T | 1 | a0001c0001t0001g0038 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-461A>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124190 | ||||||
chr21:46124192
|
G | C | 1 | a0001c0001t0001g0038 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-459G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124192 | ||||||
chr21:46124193
|
G | A | 1 | a0001c0001t0001g0038 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-458G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124193 | ||||||
chr21:46124194
|
A | C | 1 | a0001c0001t0001g0038 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-457A>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124194 | ||||||
chr21:46124196
|
G | C | 1 | a0001c0001t0001g0038 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-455G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124196 | ||||||
chr21:46124197
|
G | A | 1 | a0001c0001t0001g0038 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-454G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124197 | ||||||
chr21:46124198
|
G | C | 1 | a0001c0001t0001g0038 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-453G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124198 | ||||||
chr21:46124200
|
T | C | 1 | a0001c0001t0001g0038 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-451T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124200 | ||||||
chr21:46124202
|
G | T | 1 | a0001c0001t0001g0038 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-449G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124202 | ||||||
chr21:46124202
|
GTGGGTGG others(20): Show |
G | 1 | a0001c0006t0001g0188 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.1672-442_1672-416d others(29): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | 46124202 | |||||
chr21:46124205
|
G | T | 1 | a0001c0001t0001g0038 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-446G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124205 | ||||||
chr21:46124206
|
G | A | 1 | a0001c0001t0001g0038 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-445G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124206 | ||||||
chr21:46124208
|
G | C | 1 | a0001c0001t0001g0038 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-443G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124208 | ||||||
chr21:46124209
|
G | T | 1 | a0001c0001t0001g0038 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-442G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124209 | ||||||
chr21:46124212
|
G | C | 1 | a0001c0001t0001g0038 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-439G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124212 | ||||||
chr21:46124213
|
G | A | 1 | a0001c0001t0001g0038 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-438G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124213 | ||||||
chr21:46124214
|
G | T | 1 | a0001c0001t0001g0038 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-437G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124214 | ||||||
chr21:46124216
|
G | A | 1 | a0001c0001t0001g0136 | 1 | NA18984.hp2 | intron_variant | MODIFIER | c.1672-435G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124216 | ||||||
chr21:46124216
|
G | T | 1 | a0001c0001t0001g0038 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-435G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124216 | ||||||
chr21:46124224
|
G | C | 1 | a0001c0001t0001g0038 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-427G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124224 | ||||||
chr21:46124227
|
G | C | 1 | a0001c0001t0001g0038 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-424G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124227 | ||||||
chr21:46124228
|
G | C | 1 | a0001c0001t0001g0038 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-423G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124228 | ||||||
chr21:46124231
|
G | T | 1 | a0001c0001t0001g0038 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-420G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124231 | ||||||
chr21:46124232
|
G | A | 1 | a0001c0001t0001g0038 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-419G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124232 | ||||||
chr21:46124233
|
G | T | 1 | a0001c0001t0001g0038 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-418G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124233 | ||||||
chr21:46124235
|
G | A | 1 | a0001c0001t0001g0038 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-416G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124235 | ||||||
chr21:46124236
|
ACTGGGTG others(25): Show |
A | 1 | a0001c0002t0002g0289 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.1672-404_1672-373d others(34): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | 46124236 | |||||
chr21:46124238
|
T | TATTTATT others(4): Show |
1 | a0001c0001t0001g0038 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-413_1672-412i others(13): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124238 | ||||||
chr21:46124240
|
G | A | 1 | a0001c0001t0001g0038 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-411G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124240 | ||||||
chr21:46124244
|
G | C | 1 | a0001c0001t0001g0038 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-407G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124244 | ||||||
chr21:46124247
|
G | T | 1 | a0001c0001t0001g0038 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-404G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124247 | ||||||
chr21:46124248
|
G | C | 1 | a0001c0001t0001g0038 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-403G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124248 | ||||||
chr21:46124251
|
G | C | 1 | a0001c0001t0001g0038 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-400G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124251 | ||||||
chr21:46124252
|
G | A | 1 | a0001c0001t0001g0038 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-399G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124252 | ||||||
chr21:46124253
|
A | T | 1 | a0001c0001t0001g0038 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-398A>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124253 | ||||||
chr21:46124255
|
G | A | 1 | a0001c0001t0001g0038 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-396G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124255 | ||||||
chr21:46124256
|
G | T | 1 | a0001c0001t0001g0038 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-395G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124256 | ||||||
chr21:46124260
|
A | G | 1 | a0002c0012t0001g0030 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-391A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124260 | ||||||
chr21:46124261
|
G | C | 1 | a0002c0012t0001g0030 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-390G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124261 | ||||||
chr21:46124265
|
G | C | 1 | a0001c0001t0001g0038 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-386G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124265 | ||||||
chr21:46124269
|
C | A | 1 | a0002c0012t0001g0030 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-382C>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124269 | ||||||
chr21:46124270
|
T | A | 2 | a0001c0001t0001g0038a0002c0012t0001g0030 | 2 | HG01099.hp1 HG02280.hp2 |
intron_variant | MODIFIER | c.1672-381T>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124270 | ||||||
chr21:46124271
|
G | T | 1 | a0001c0001t0001g0038 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-380G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124271 | ||||||
chr21:46124273
|
G | C | 1 | a0001c0001t0001g0038 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-378G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124273 | ||||||
chr21:46124281
|
A | G | 1 | a0002c0012t0001g0030 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-370A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124281 | ||||||
chr21:46124293
|
TTGGGCGA others(1): Show |
T | 5 | a0001c0001t0001g0243a0001c0001t0001g0244a0001c0004t0001g0102others(2): Show | 5 | HG01981.hp2 HG02630.hp2 HG04204.hp2 others(2): Show |
intron_variant | MODIFIER | c.1672-345_1672-338d others(10): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | 46124293 | |||||
chr21:46124295
|
G | C | 1 | a0001c0001t0001g0038 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-356G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124295 | ||||||
chr21:46124299
|
G | A | 2 | a0003c0010t0001g0189a0003c0010t0001g0196 | 2 | HG02145.hp2 HG02717.hp2 |
intron_variant | MODIFIER | c.1672-352G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124299 | ||||||
chr21:46124301
|
A | T | 1 | a0001c0001t0001g0038 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-350A>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124301 | ||||||
chr21:46124302
|
T | G | 1 | a0001c0001t0001g0038 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-349T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124302 | ||||||
chr21:46124313
|
G | C | 1 | a0001c0001t0001g0038 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-338G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124313 | ||||||
chr21:46124323
|
G | T | 1 | a0002c0012t0001g0030 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-328G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124323 | ||||||
chr21:46124326
|
C | T | 2 | a0001c0002t0002g0271a0001c0050t0002g0298 | 2 | HG03927.hp2 NA19087.hp2 |
intron_variant | MODIFIER | c.1672-325C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124326 | ||||||
chr21:46124342
|
A | G | 1 | a0002c0012t0001g0030 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-309A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124342 | ||||||
chr21:46124343
|
C | T | 1 | a0002c0012t0001g0030 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-308C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124343 | ||||||
chr21:46124347
|
A | G | 1 | a0002c0012t0001g0030 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-304A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124347 | ||||||
chr21:46124348
|
T | G | 1 | a0002c0012t0001g0030 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-303T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124348 | ||||||
chr21:46124349
|
A | T | 1 | a0002c0012t0001g0030 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-302A>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124349 | ||||||
chr21:46124372
|
T | G | 1 | a0002c0012t0001g0030 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-279T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124372 | ||||||
chr21:46124374
|
G | T | 1 | a0002c0012t0001g0030 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-277G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124374 | ||||||
chr21:46124375
|
A | T | 1 | a0002c0012t0001g0030 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-276A>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124375 | ||||||
chr21:46124376
|
A | C | 1 | a0002c0012t0001g0030 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-275A>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124376 | ||||||
chr21:46124382
|
T | G | 1 | a0002c0012t0001g0030 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-269T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124382 | ||||||
chr21:46124385
|
T | G | 1 | a0002c0012t0001g0030 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-266T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124385 | ||||||
chr21:46124386
|
T | A | 1 | a0002c0012t0001g0030 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-265T>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124386 | ||||||
chr21:46124389
|
G | A | 1 | a0002c0012t0001g0030 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-262G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124389 | ||||||
chr21:46124394
|
T | C | 288 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(285): Show | 309 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(306): Show |
intron_variant | MODIFIER | c.1672-257T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124394 | ||||||
chr21:46124394
|
T | G | 1 | a0002c0012t0001g0030 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-257T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124394 | ||||||
chr21:46124405
|
C | A | 1 | a0002c0012t0001g0030 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-246C>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124405 | ||||||
chr21:46124406
|
A | T | 1 | a0002c0012t0001g0030 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-245A>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124406 | ||||||
chr21:46124407
|
C | G | 1 | a0002c0012t0001g0030 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-244C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124407 | ||||||
chr21:46124408
|
C | A | 1 | a0002c0012t0001g0030 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-243C>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124408 | ||||||
chr21:46124409
|
C | G | 1 | a0002c0012t0001g0030 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-242C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124409 | ||||||
chr21:46124412
|
C | T | 1 | a0002c0012t0001g0030 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-239C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124412 | ||||||
chr21:46124450
|
G | A | 1 | a0002c0003t0001g0222 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.1672-201G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124450 | ||||||
chr21:46124461
|
C | T | 1 | a0001c0001t0001g0130 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.1672-190C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124461 | ||||||
chr21:46124474
|
T | C | 42 | a0001c0007t0001g0302a0001c0007t0003g0246a0001c0007t0003g0247others(39): Show | 43 | HG00423.hp2 HG00597.hp1 HG00639.hp2 others(40): Show |
intron_variant | MODIFIER | c.1672-177T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124474 | ||||||
chr21:46124537
|
GC | G | 244 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(241): Show | 264 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(261): Show |
intron_variant | MODIFIER | c.1672-103delC | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | 46124537 | |||||
chr21:46124537
|
GCC | G | 41 | a0001c0007t0001g0302a0001c0007t0003g0246a0001c0007t0003g0247others(38): Show | 42 | HG00423.hp2 HG00597.hp1 HG00639.hp2 others(39): Show |
intron_variant | MODIFIER | c.1672-104_1672-103d others(4): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | 46124537 | |||||
chr21:46124539
|
C | T | 3 | a0001c0001t0001g0116a0001c0001t0001g0161a0001c0001t0001g0172 | 3 | NA18979.hp2 NA19055.hp1 NA19060.hp1 |
intron_variant | MODIFIER | c.1672-112C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124539 | ||||||
chr21:46124540
|
C | T | 136 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(133): Show | 142 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(139): Show |
intron_variant | MODIFIER | c.1672-111C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124540 | ||||||
chr21:46124542
|
C | T | 1 | a0001c0007t0001g0302 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.1672-109C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124542 | ||||||
chr21:46124548
|
C | T | 1 | a0001c0002t0002g0309 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.1672-103C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124548 | ||||||
chr21:46124562
|
C | T | 2 | a0003c0064t0001g0195a0004c0005t0001g0210 | 2 | HG01257.hp2 NA18969.hp2 |
intron_variant | MODIFIER | c.1672-89C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124562 | ||||||
chr21:46124614
|
G | T | 13 | a0001c0044t0003g0197a0003c0008t0003g0044a0003c0008t0003g0045others(10): Show | 14 | HG00423.hp2 HG00597.hp1 HG01243.hp1 others(11): Show |
intron_variant | MODIFIER | c.1672-37G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124614 | ||||||
chr21:46124627
|
C | G | 139 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(136): Show | 145 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(142): Show |
intron_variant | MODIFIER | c.1672-24C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124627 | ||||||
chr21:46124639
|
G | A | 3 | a0001c0002t0002g0277a0001c0002t0002g0278a0001c0002t0002g0324 | 3 | HG02922.hp2 HG03139.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.1672-12G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124639 | ||||||
chr21:46124748
|
A | G | 42 | a0001c0007t0001g0302a0001c0007t0003g0246a0001c0007t0003g0247others(39): Show | 43 | HG00423.hp2 HG00597.hp1 HG00639.hp2 others(40): Show |
intron_variant | MODIFIER | c.1734+35A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 22/27 | chr21 | 46124748 | ||||||
chr21:46124813
|
G | A | 78 | a0001c0002t0001g0322a0001c0002t0002g0001a0001c0002t0002g0004others(75): Show | 91 | HG00423.hp1 HG00544.hp2 HG00597.hp2 others(88): Show |
intron_variant | MODIFIER | c.1735-72G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 22/27 | chr21 | 46124813 | ||||||
chr21:46124815
|
C | T | 3 | a0001c0035t0001g0052a0001c0045t0001g0051a0001c0047t0001g0245 | 3 | HG02965.hp1 HG02976.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.1735-70C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 22/27 | chr21 | 46124815 | ||||||
chr21:46124855
|
A | G | 21 | a0003c0010t0001g0189a0003c0010t0001g0196a0003c0010t0001g0207others(18): Show | 21 | HG00438.hp2 HG00639.hp1 HG01074.hp1 others(18): Show |
intron_variant | MODIFIER | c.1735-30A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 22/27 | chr21 | 46124855 | ||||||
chr21:46124924
|
G | A | 78 | a0001c0002t0001g0322a0001c0002t0002g0001a0001c0002t0002g0004others(75): Show | 91 | HG00423.hp1 HG00544.hp2 HG00597.hp2 others(88): Show |
splice_region_variant&intron_variant | LOW | c.1770+4G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 23/27 | chr21 | 46124924 | ||||||
chr21:46124934
|
G | A | 1 | a0001c0001t0001g0133 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.1770+14G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 23/27 | chr21 | 46124934 | ||||||
chr21:46125031
|
G | A | 1 | a0001c0036t0001g0035 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.1770+111G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 23/27 | chr21 | 46125031 | ||||||
chr21:46125041
|
GAGGGCAA others(33): Show |
G | 1 | a0003c0008t0003g0199 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.1770+132_1770+171d others(42): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 23/27 | INFO_REALIGN_3_PRIME | chr21 | 46125041 | |||||
chr21:46125085
|
G | A | 1 | a0001c0001t0001g0043 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.1770+165G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 23/27 | chr21 | 46125085 | ||||||
chr21:46125107
|
G | A | 75 | a0001c0002t0001g0322a0001c0002t0002g0001a0001c0002t0002g0004others(72): Show | 88 | HG00423.hp1 HG00544.hp2 HG00597.hp2 others(85): Show |
intron_variant | MODIFIER | c.1771-159G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 23/27 | chr21 | 46125107 | ||||||
chr21:46125144
|
C | T | 1 | a0001c0002t0002g0297 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.1771-122C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 23/27 | chr21 | 46125144 | ||||||
chr21:46125241
|
A | G | 287 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(284): Show | 308 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(305): Show |
intron_variant | MODIFIER | c.1771-25A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 23/27 | chr21 | 46125241 | ||||||
chr21:46125242
|
C | G | 1 | a0001c0007t0005g0060 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1771-24C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 23/27 | chr21 | 46125242 | ||||||
chr21:46125396
|
T | C | 40 | a0001c0007t0001g0302a0001c0007t0003g0246a0001c0007t0003g0263others(37): Show | 41 | HG00423.hp2 HG00597.hp1 HG00639.hp2 others(38): Show |
intron_variant | MODIFIER | c.1817-69T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 24/27 | chr21 | 46125396 | ||||||
chr21:46125403
|
G | A | 2 | a0001c0007t0003g0247a0001c0025t0001g0235 | 2 | HG01261.hp2 HG02559.hp2 |
intron_variant | MODIFIER | c.1817-62G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 24/27 | chr21 | 46125403 | ||||||
chr21:46125432
|
C | T | 78 | a0001c0002t0001g0322a0001c0002t0002g0001a0001c0002t0002g0004others(75): Show | 91 | HG00423.hp1 HG00544.hp2 HG00597.hp2 others(88): Show |
intron_variant | MODIFIER | c.1817-33C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 24/27 | chr21 | 46125432 | ||||||
chr21:46125442
|
C | T | 1 | a0001c0002t0002g0284 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.1817-23C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 24/27 | chr21 | 46125442 | ||||||
chr21:46125455
|
A | AC | 83 | a0001c0001t0001g0036a0001c0001t0001g0114a0001c0002t0001g0322others(80): Show | 97 | HG00140.hp2 HG00423.hp1 HG00544.hp2 others(94): Show |
splice_acceptor_variant&intron_variant | HIGH | c.1817-3dupC | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 24/27 | INFO_REALIGN_3_PRIME | chr21 | 46125455 | |||||
chr21:46125682
|
T | G | 2 | a0001c0002t0002g0123a0001c0002t0002g0292 | 2 | HG00741.hp1 HG01074.hp2 |
intron_variant | MODIFIER | c.1969+65T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 25/27 | chr21 | 46125682 | ||||||
chr21:46125762
|
G | C | 6 | a0001c0009t0001g0021a0001c0009t0001g0253a0001c0009t0001g0259others(3): Show | 7 | HG00140.hp2 HG00735.hp2 HG00738.hp1 others(4): Show |
intron_variant | MODIFIER | c.1970-23G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 25/27 | chr21 | 46125762 | ||||||
chr21:46125770
|
G | A | 1 | a0001c0001t0001g0214 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.1970-15G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 25/27 | chr21 | 46125770 | ||||||
chr21:46126287
|
C | T | 4 | a0001c0007t0003g0263a0001c0007t0003g0264a0001c0007t0003g0265others(1): Show | 4 | HG02886.hp2 HG02897.hp1 HG03486.hp2 others(1): Show |
intron_variant | MODIFIER | c.2422+50C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 26/27 | chr21 | 46126287 | ||||||
chr21:46126330
|
T | C | 181 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(178): Show | 188 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(185): Show |
intron_variant | MODIFIER | c.2422+93T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 26/27 | chr21 | 46126330 | ||||||
chr21:46126349
|
C | A | 22 | a0001c0007t0001g0302a0001c0044t0003g0197a0002c0003t0001g0222others(19): Show | 23 | HG00423.hp2 HG00597.hp1 HG00639.hp2 others(20): Show |
intron_variant | MODIFIER | c.2422+112C>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 26/27 | chr21 | 46126349 | ||||||
chr21:46126420
|
T | C | 13 | a0001c0044t0003g0197a0003c0008t0003g0044a0003c0008t0003g0045others(10): Show | 14 | HG00423.hp2 HG00597.hp1 HG01243.hp1 others(11): Show |
intron_variant | MODIFIER | c.2423-83T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 26/27 | chr21 | 46126420 | ||||||
chr21:46126445
|
G | A | 1 | a0003c0010t0001g0189 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.2423-58G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 26/27 | chr21 | 46126445 | ||||||
chr21:46126461
|
G | A | 2 | a0001c0007t0005g0060a0001c0007t0005g0061 | 2 | HG02615.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.2423-42G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 26/27 | chr21 | 46126461 | ||||||
chr21:46126468
|
C | A | 21 | a0001c0007t0001g0302a0001c0044t0003g0197a0002c0003t0001g0222others(18): Show | 21 | HG00423.hp2 HG00597.hp1 HG00639.hp2 others(18): Show |
intron_variant | MODIFIER | c.2423-35C>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 26/27 | chr21 | 46126468 | ||||||
chr21:46126476
|
T | C | 1 | a0008c0027t0003g0013 | 2 | HG01516.hp1 HG01517.hp2 |
intron_variant | MODIFIER | c.2423-27T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 26/27 | chr21 | 46126476 | ||||||
chr21:46126476
|
T | TGGCCC | 9 | a0001c0007t0001g0302a0002c0003t0001g0222a0002c0003t0001g0223others(6): Show | 9 | HG00639.hp2 HG02055.hp2 HG02083.hp2 others(6): Show |
intron_variant | MODIFIER | c.2423-22_2423-18dup others(5): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 26/27 | INFO_REALIGN_3_PRIME | chr21 | 46126476 | |||||
chr21:46126476
|
T | TGGCCCGG others(8): Show |
12 | a0001c0044t0003g0197a0003c0008t0003g0044a0003c0008t0003g0045others(9): Show | 12 | HG00423.hp2 HG00597.hp1 HG01243.hp1 others(9): Show |
intron_variant | MODIFIER | c.2423-18_2423-17ins others(15): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 26/27 | INFO_REALIGN_3_PRIME | chr21 | 46126476 | |||||
chr21:46126552
|
G | C | 1 | a0001c0002t0013g0314 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.2461+11G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46126552 | ||||||
chr21:46126658
|
C | T | 2 | a0001c0001t0001g0170a0001c0001t0001g0184 | 2 | HG02080.hp2 NA18945.hp1 |
intron_variant | MODIFIER | c.2461+117C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46126658 | ||||||
chr21:46126669
|
C | T | 1 | a0001c0035t0001g0052 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.2461+128C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46126669 | ||||||
chr21:46126744
|
G | A | 2 | a0003c0010t0001g0190a0003c0016t0001g0231 | 2 | HG02615.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.2461+203G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46126744 | ||||||
chr21:46126759
|
C | T | 1 | a0001c0002t0002g0284 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.2461+218C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46126759 | ||||||
chr21:46126840
|
G | T | 3 | a0001c0009t0001g0021a0001c0009t0001g0253a0001c0009t0001g0262 | 4 | HG00140.hp2 HG00735.hp2 HG00738.hp1 others(1): Show |
intron_variant | MODIFIER | c.2461+299G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46126840 | ||||||
chr21:46126894
|
T | G | 6 | a0001c0007t0005g0059a0001c0007t0005g0060a0001c0007t0005g0061others(3): Show | 6 | HG01891.hp1 HG02559.hp1 HG02615.hp2 others(3): Show |
intron_variant | MODIFIER | c.2461+353T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46126894 | ||||||
chr21:46126916
|
T | G | 1 | a0001c0046t0001g0249 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.2461+375T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46126916 | ||||||
chr21:46126974
|
T | C | 1 | a0014c0051t0001g0225 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.2461+433T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46126974 | ||||||
chr21:46127012
|
TCA | T | 341 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(338): Show | 363 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(360): Show |
intron_variant | MODIFIER | c.2461+474_2461+475d others(4): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr21 | 46127012 | |||||
chr21:46127064
|
G | A | 3 | a0001c0009t0001g0021a0001c0009t0001g0253a0001c0009t0001g0262 | 4 | HG00140.hp2 HG00735.hp2 HG00738.hp1 others(1): Show |
intron_variant | MODIFIER | c.2461+523G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46127064 | ||||||
chr21:46127172
|
G | T | 133 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(130): Show | 139 | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(136): Show |
intron_variant | MODIFIER | c.2461+631G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46127172 | ||||||
chr21:46127220
|
A | G | 300 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(297): Show | 321 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(318): Show |
intron_variant | MODIFIER | c.2461+679A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46127220 | ||||||
chr21:46127294
|
C | A | 22 | a0001c0007t0001g0302a0001c0007t0003g0246a0001c0007t0003g0247others(19): Show | 22 | HG00639.hp2 HG01261.hp2 HG02055.hp2 others(19): Show |
intron_variant | MODIFIER | c.2461+753C>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46127294 | ||||||
chr21:46127317
|
G | A | 9 | a0001c0007t0003g0246a0001c0007t0003g0247a0001c0007t0003g0263others(6): Show | 9 | HG01261.hp2 HG02257.hp2 HG02559.hp2 others(6): Show |
intron_variant | MODIFIER | c.2461+776G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46127317 | ||||||
chr21:46127377
|
C | T | 4 | a0001c0007t0003g0263a0001c0007t0003g0264a0001c0007t0003g0265others(1): Show | 4 | HG02886.hp2 HG02897.hp1 HG03486.hp2 others(1): Show |
intron_variant | MODIFIER | c.2461+836C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46127377 | ||||||
chr21:46127418
|
G | A | 139 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(136): Show | 145 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(142): Show |
intron_variant | MODIFIER | c.2461+877G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46127418 | ||||||
chr21:46127443
|
C | T | 1 | a0004c0005t0004g0203 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.2461+902C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46127443 | ||||||
chr21:46127462
|
G | A | 9 | a0001c0007t0003g0246a0001c0007t0003g0247a0001c0007t0003g0263others(6): Show | 9 | HG01261.hp2 HG02257.hp2 HG02559.hp2 others(6): Show |
intron_variant | MODIFIER | c.2461+921G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46127462 | ||||||
chr21:46127462
|
G | T | 1 | a0002c0061t0001g0063 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.2461+921G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46127462 | ||||||
chr21:46127512
|
C | T | 3 | a0001c0002t0002g0123a0001c0002t0002g0291a0001c0002t0002g0292 | 3 | HG00735.hp1 HG00741.hp1 HG01074.hp2 |
intron_variant | MODIFIER | c.2461+971C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46127512 | ||||||
chr21:46127538
|
C | T | 7 | a0001c0007t0005g0059a0001c0007t0005g0060a0001c0007t0005g0061others(4): Show | 7 | HG01891.hp1 HG02559.hp1 HG02615.hp2 others(4): Show |
intron_variant | MODIFIER | c.2461+997C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46127538 | ||||||
chr21:46127560
|
G | A | 21 | a0003c0010t0001g0189a0003c0010t0001g0196a0003c0010t0001g0207others(18): Show | 21 | HG00438.hp2 HG00639.hp1 HG01074.hp1 others(18): Show |
intron_variant | MODIFIER | c.2461+1019G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46127560 | ||||||
chr21:46127670
|
C | T | 1 | a0004c0005t0001g0208 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.2461+1129C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46127670 | ||||||
chr21:46127678
|
C | G | 7 | a0001c0007t0005g0059a0001c0007t0005g0060a0001c0007t0005g0061others(4): Show | 7 | HG01891.hp1 HG02559.hp1 HG02615.hp2 others(4): Show |
intron_variant | MODIFIER | c.2461+1137C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46127678 | ||||||
chr21:46127691
|
A | G | 13 | a0001c0044t0003g0197a0003c0008t0003g0044a0003c0008t0003g0045others(10): Show | 14 | HG00423.hp2 HG00597.hp1 HG01243.hp1 others(11): Show |
intron_variant | MODIFIER | c.2461+1150A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46127691 | ||||||
chr21:46127726
|
TG | T | 181 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(178): Show | 188 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(185): Show |
intron_variant | MODIFIER | c.2461+1191delG | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr21 | 46127726 | |||||
chr21:46127748
|
T | C | 304 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(301): Show | 325 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(322): Show |
intron_variant | MODIFIER | c.2461+1207T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46127748 | ||||||
chr21:46127780
|
C | T | 1 | a0014c0051t0001g0225 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.2461+1239C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46127780 | ||||||
chr21:46127782
|
T | A | 1 | a0002c0003t0001g0227 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.2461+1241T>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46127782 | ||||||
chr21:46127860
|
T | C | 146 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(143): Show | 154 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(151): Show |
intron_variant | MODIFIER | c.2461+1319T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46127860 | ||||||
chr21:46127869
|
G | T | 1 | a0001c0002t0002g0315 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.2461+1328G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46127869 | ||||||
chr21:46127882
|
C | T | 1 | a0001c0002t0002g0301 | 1 | NA18975.hp1 | intron_variant | MODIFIER | c.2461+1341C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46127882 | ||||||
chr21:46127883
|
G | A | 13 | a0001c0044t0003g0197a0003c0008t0003g0044a0003c0008t0003g0045others(10): Show | 14 | HG00423.hp2 HG00597.hp1 HG01243.hp1 others(11): Show |
intron_variant | MODIFIER | c.2461+1342G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46127883 | ||||||
chr21:46127926
|
C | T | 34 | a0001c0007t0001g0302a0001c0007t0003g0246a0001c0007t0003g0247others(31): Show | 35 | HG00423.hp2 HG00597.hp1 HG00639.hp2 others(32): Show |
intron_variant | MODIFIER | c.2461+1385C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46127926 | ||||||
chr21:46127928
|
C | T | 2 | a0001c0001t0001g0100a0001c0001t0001g0101 | 2 | NA18943.hp2 NA19066.hp1 |
intron_variant | MODIFIER | c.2461+1387C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46127928 | ||||||
chr21:46127944
|
G | C | 1 | a0001c0046t0001g0249 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.2461+1403G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46127944 | ||||||
chr21:46128017
|
C | T | 13 | a0001c0044t0003g0197a0003c0008t0003g0044a0003c0008t0003g0045others(10): Show | 14 | HG00423.hp2 HG00597.hp1 HG01243.hp1 others(11): Show |
intron_variant | MODIFIER | c.2461+1476C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46128017 | ||||||
chr21:46128077
|
A | G | 1 | a0001c0006t0001g0151 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.2461+1536A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46128077 | ||||||
chr21:46128097
|
T | C | 190 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(187): Show | 197 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(194): Show |
intron_variant | MODIFIER | c.2461+1556T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46128097 | ||||||
chr21:46128153
|
G | A | 1 | a0002c0012t0001g0026 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.2461+1612G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46128153 | ||||||
chr21:46128205
|
C | T | 2 | a0001c0002t0002g0316a0001c0002t0002g0324 | 2 | NA18965.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.2461+1664C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46128205 | ||||||
chr21:46128220
|
C | T | 1 | a0001c0006t0001g0167 | 1 | NA19087.hp1 | intron_variant | MODIFIER | c.2461+1679C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46128220 | ||||||
chr21:46128238
|
C | T | 2 | a0003c0032t0001g0240a0003c0032t0001g0241 | 2 | HG02818.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.2461+1697C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46128238 | ||||||
chr21:46128280
|
C | T | 2 | a0001c0022t0001g0236a0001c0022t0001g0254 | 2 | HG01243.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.2461+1739C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46128280 | ||||||
chr21:46128329
|
C | T | 2 | a0001c0001t0001g0100a0001c0001t0001g0101 | 2 | NA18943.hp2 NA19066.hp1 |
intron_variant | MODIFIER | c.2461+1788C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46128329 | ||||||
chr21:46128334
|
C | A | 1 | a0001c0001t0001g0100 | 1 | NA18943.hp2 | intron_variant | MODIFIER | c.2461+1793C>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46128334 | ||||||
chr21:46128433
|
G | A | 116 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(113): Show | 121 | HG00140.hp1 HG00280.hp1 HG00558.hp1 others(118): Show |
intron_variant | MODIFIER | c.2461+1892G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46128433 | ||||||
chr21:46128477
|
A | G | 4 | a0001c0007t0003g0247a0001c0025t0001g0235a0002c0013t0003g0067others(1): Show | 4 | HG01261.hp2 HG02257.hp2 HG02559.hp2 others(1): Show |
intron_variant | MODIFIER | c.2461+1936A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46128477 | ||||||
chr21:46128484
|
G | GTGGCCTG others(4): Show |
125 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(122): Show | 130 | HG00140.hp1 HG00280.hp1 HG00558.hp1 others(127): Show |
intron_variant | MODIFIER | c.2461+1950_2461+196 others(15): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr21 | 46128484 | |||||
chr21:46128576
|
G | A | 7 | a0001c0007t0001g0302a0002c0003t0001g0068a0002c0003t0001g0224others(4): Show | 7 | HG00639.hp2 HG01433.hp1 HG02109.hp2 others(4): Show |
intron_variant | MODIFIER | c.2461+2035G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46128576 | ||||||
chr21:46128641
|
A | C | 147 | a0001c0002t0001g0322a0001c0002t0002g0001a0001c0002t0002g0004others(144): Show | 162 | HG00140.hp2 HG00423.hp1 HG00423.hp2 others(159): Show |
intron_variant | MODIFIER | c.2461+2100A>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46128641 | ||||||
chr21:46128695
|
G | T | 1 | a0001c0046t0001g0249 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.2461+2154G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46128695 | ||||||
chr21:46128911
|
G | A | 1 | a0001c0046t0001g0249 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.2461+2370G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46128911 | ||||||
chr21:46128939
|
C | T | 2 | a0003c0032t0001g0240a0003c0032t0001g0241 | 2 | HG02818.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.2461+2398C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46128939 | ||||||
chr21:46128940
|
G | A | 2 | a0001c0002t0012g0018a0001c0033t0002g0018 | 2 | NA18747.hp2 NA18942.hp2 |
intron_variant | MODIFIER | c.2461+2399G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46128940 | ||||||
chr21:46128991
|
T | C | 2 | a0002c0003t0001g0068a0002c0061t0001g0063 | 2 | HG02109.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.2461+2450T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46128991 | ||||||
chr21:46129041
|
C | T | 3 | a0001c0007t0003g0263a0001c0007t0003g0264a0001c0007t0003g0265 | 3 | HG02886.hp2 HG02897.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.2461+2500C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46129041 | ||||||
chr21:46129123
|
G | A | 1 | a0008c0027t0003g0013 | 2 | HG01516.hp1 HG01517.hp2 |
intron_variant | MODIFIER | c.2461+2582G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46129123 | ||||||
chr21:46129148
|
C | T | 1 | a0001c0001t0001g0173 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.2461+2607C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46129148 | ||||||
chr21:46129159
|
G | A | 1 | a0001c0001t0006g0171 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.2461+2618G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46129159 | ||||||
chr21:46129201
|
C | A | 2 | a0001c0022t0001g0236a0001c0022t0001g0254 | 2 | HG01243.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.2461+2660C>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46129201 | ||||||
chr21:46129208
|
C | A | 1 | a0001c0002t0002g0278 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.2461+2667C>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46129208 | ||||||
chr21:46129317
|
G | A | 1 | a0001c0011t0001g0177 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.2462-2637G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46129317 | ||||||
chr21:46129449
|
G | C | 3 | a0001c0002t0002g0016a0001c0002t0002g0271a0001c0050t0002g0298 | 4 | HG03927.hp2 NA18947.hp1 NA18954.hp1 others(1): Show |
intron_variant | MODIFIER | c.2462-2505G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46129449 | ||||||
chr21:46129476
|
G | A | 1 | a0005c0017t0002g0258 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.2462-2478G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46129476 | ||||||
chr21:46129496
|
C | T | 4 | a0001c0002t0001g0322a0001c0002t0002g0123a0001c0002t0002g0291others(1): Show | 4 | HG00735.hp1 HG00741.hp1 HG01074.hp2 others(1): Show |
intron_variant | MODIFIER | c.2462-2458C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46129496 | ||||||
chr21:46129596
|
G | C | 83 | a0001c0002t0001g0322a0001c0002t0002g0001a0001c0002t0002g0004others(80): Show | 97 | HG00140.hp2 HG00423.hp1 HG00544.hp2 others(94): Show |
intron_variant | MODIFIER | c.2462-2358G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46129596 | ||||||
chr21:46129607
|
G | C | 1 | a0001c0002t0002g0284 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.2462-2347G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46129607 | ||||||
chr21:46129643
|
A | G | 12 | a0001c0044t0003g0197a0003c0008t0003g0044a0003c0008t0003g0045others(9): Show | 13 | HG00423.hp2 HG00597.hp1 HG01243.hp1 others(10): Show |
intron_variant | MODIFIER | c.2462-2311A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46129643 | ||||||
chr21:46129655
|
T | C | 93 | a0001c0002t0001g0322a0001c0002t0002g0001a0001c0002t0002g0004others(90): Show | 106 | HG00423.hp1 HG00544.hp2 HG00597.hp2 others(103): Show |
intron_variant | MODIFIER | c.2462-2299T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46129655 | ||||||
chr21:46129699
|
C | T | 21 | a0003c0010t0001g0189a0003c0010t0001g0196a0003c0010t0001g0207others(18): Show | 21 | HG00438.hp2 HG00639.hp1 HG01074.hp1 others(18): Show |
intron_variant | MODIFIER | c.2462-2255C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46129699 | ||||||
chr21:46129715
|
T | A | 139 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(136): Show | 145 | HG00140.hp1 HG00280.hp1 HG00558.hp1 others(142): Show |
intron_variant | MODIFIER | c.2462-2239T>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46129715 | ||||||
chr21:46129770
|
T | C | 1 | a0002c0003t0001g0073 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.2462-2184T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46129770 | ||||||
chr21:46129782
|
T | C | 9 | a0001c0007t0001g0302a0002c0003t0001g0222a0002c0003t0001g0223others(6): Show | 9 | HG00639.hp2 HG02055.hp2 HG02083.hp2 others(6): Show |
intron_variant | MODIFIER | c.2462-2172T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46129782 | ||||||
chr21:46129783
|
C | T | 1 | a0001c0002t0002g0288 | 1 | NA18980.hp2 | intron_variant | MODIFIER | c.2462-2171C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46129783 | ||||||
chr21:46129801
|
C | T | 34 | a0001c0007t0003g0246a0001c0007t0003g0247a0001c0007t0003g0263others(31): Show | 34 | HG00438.hp2 HG00639.hp1 HG01074.hp1 others(31): Show |
intron_variant | MODIFIER | c.2462-2153C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46129801 | ||||||
chr21:46129945
|
C | T | 12 | a0001c0044t0003g0197a0003c0008t0003g0044a0003c0008t0003g0045others(9): Show | 13 | HG00423.hp2 HG00597.hp1 HG01243.hp1 others(10): Show |
intron_variant | MODIFIER | c.2462-2009C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46129945 | ||||||
chr21:46130061
|
G | A | 1 | a0014c0051t0001g0225 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.2462-1893G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46130061 | ||||||
chr21:46130065
|
A | G | 1 | a0001c0046t0001g0249 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.2462-1889A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46130065 | ||||||
chr21:46130066
|
C | T | 9 | a0001c0007t0001g0302a0002c0003t0001g0222a0002c0003t0001g0223others(6): Show | 9 | HG00639.hp2 HG02055.hp2 HG02083.hp2 others(6): Show |
intron_variant | MODIFIER | c.2462-1888C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46130066 | ||||||
chr21:46130135
|
T | C | 1 | a0001c0046t0001g0249 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.2462-1819T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46130135 | ||||||
chr21:46130147
|
G | A | 1 | a0001c0004t0001g0102 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.2462-1807G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46130147 | ||||||
chr21:46130147
|
G | T | 1 | a0001c0002t0002g0296 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.2462-1807G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46130147 | ||||||
chr21:46130159
|
G | A | 12 | a0001c0007t0003g0246a0001c0007t0003g0247a0001c0007t0003g0263others(9): Show | 12 | HG01261.hp2 HG02257.hp2 HG02559.hp2 others(9): Show |
intron_variant | MODIFIER | c.2462-1795G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46130159 | ||||||
chr21:46130177
|
C | T | 1 | a0003c0016t0001g0200 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.2462-1777C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46130177 | ||||||
chr21:46130187
|
C | T | 1 | a0002c0055t0001g0048 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.2462-1767C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46130187 | ||||||
chr21:46130228
|
C | T | 6 | a0002c0012t0001g0030a0002c0012t0007g0029a0002c0012t0007g0032others(3): Show | 6 | HG02257.hp1 HG02280.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.2462-1726C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46130228 | ||||||
chr21:46130252
|
C | T | 1 | a0001c0015t0002g0260 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.2462-1702C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46130252 | ||||||
chr21:46130346
|
G | A | 1 | a0003c0016t0001g0231 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.2462-1608G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46130346 | ||||||
chr21:46130361
|
C | G | 9 | a0001c0007t0001g0302a0002c0003t0001g0222a0002c0003t0001g0223others(6): Show | 9 | HG00639.hp2 HG02055.hp2 HG02083.hp2 others(6): Show |
intron_variant | MODIFIER | c.2462-1593C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46130361 | ||||||
chr21:46130381
|
G | A | 1 | a0008c0027t0003g0013 | 2 | HG01516.hp1 HG01517.hp2 |
intron_variant | MODIFIER | c.2462-1573G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46130381 | ||||||
chr21:46130463
|
G | T | 67 | a0001c0007t0001g0302a0001c0007t0003g0246a0001c0007t0003g0247others(64): Show | 69 | HG00140.hp2 HG00423.hp2 HG00438.hp2 others(66): Show |
intron_variant | MODIFIER | c.2462-1491G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46130463 | ||||||
chr21:46130621
|
C | T | 2 | a0001c0026t0005g0233a0001c0026t0005g0234 | 2 | HG01891.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.2462-1333C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46130621 | ||||||
chr21:46130681
|
C | T | 6 | a0002c0012t0001g0030a0002c0012t0007g0029a0002c0012t0007g0032others(3): Show | 6 | HG02257.hp1 HG02280.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.2462-1273C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46130681 | ||||||
chr21:46130706
|
T | G | 1 | a0001c0046t0001g0249 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.2462-1248T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46130706 | ||||||
chr21:46130729
|
T | C | 1 | a0001c0002t0002g0321 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.2462-1225T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46130729 | ||||||
chr21:46130743
|
G | A | 1 | a0001c0007t0003g0246 | 1 | HG02897.hp2 | intron_variant | MODIFIER | c.2462-1211G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46130743 | ||||||
chr21:46130758
|
C | T | 1 | a0001c0002t0002g0309 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.2462-1196C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46130758 | ||||||
chr21:46130782
|
T | C | 9 | a0001c0007t0001g0302a0002c0003t0001g0222a0002c0003t0001g0223others(6): Show | 9 | HG00639.hp2 HG02055.hp2 HG02083.hp2 others(6): Show |
intron_variant | MODIFIER | c.2462-1172T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46130782 | ||||||
chr21:46130840
|
G | A | 61 | a0001c0002t0002g0278a0001c0007t0001g0302a0001c0007t0003g0246others(58): Show | 62 | HG00423.hp2 HG00438.hp2 HG00597.hp1 others(59): Show |
intron_variant | MODIFIER | c.2462-1114G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46130840 | ||||||
chr21:46130891
|
C | T | 67 | a0001c0002t0002g0278a0001c0002t0002g0286a0001c0007t0001g0302others(64): Show | 68 | HG00423.hp2 HG00438.hp2 HG00597.hp1 others(65): Show |
intron_variant | MODIFIER | c.2462-1063C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46130891 | ||||||
chr21:46130901
|
C | T | 5 | a0001c0007t0005g0059a0001c0007t0005g0060a0001c0007t0005g0061others(2): Show | 5 | HG01433.hp1 HG02559.hp1 HG02615.hp2 others(2): Show |
intron_variant | MODIFIER | c.2462-1053C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46130901 | ||||||
chr21:46130902
|
G | A | 2 | a0004c0005t0004g0238a0004c0005t0004g0239 | 2 | HG01884.hp1 HG02258.hp1 |
intron_variant | MODIFIER | c.2462-1052G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46130902 | ||||||
chr21:46130903
|
G | A | 341 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(338): Show | 363 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(360): Show |
intron_variant | MODIFIER | c.2462-1051G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46130903 | ||||||
chr21:46130935
|
C | T | 22 | a0001c0002t0002g0278a0001c0007t0005g0066a0003c0010t0001g0189others(19): Show | 22 | HG00438.hp2 HG00639.hp1 HG01074.hp1 others(19): Show |
intron_variant | MODIFIER | c.2462-1019C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46130935 | ||||||
chr21:46130998
|
G | A | 63 | a0001c0002t0002g0278a0001c0007t0001g0302a0001c0007t0003g0246others(60): Show | 64 | HG00423.hp2 HG00438.hp2 HG00597.hp1 others(61): Show |
intron_variant | MODIFIER | c.2462-956G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46130998 | ||||||
chr21:46131017
|
C | G | 65 | a0001c0001t0001g0173a0001c0002t0002g0278a0001c0007t0001g0302others(62): Show | 66 | HG00423.hp2 HG00438.hp2 HG00597.hp1 others(63): Show |
intron_variant | MODIFIER | c.2462-937C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46131017 | ||||||
chr21:46131024
|
C | T | 2 | a0002c0003t0001g0071a0005c0017t0002g0312 | 2 | NA18982.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.2462-930C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46131024 | ||||||
chr21:46131059
|
G | A | 1 | a0002c0003t0001g0085 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.2462-895G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46131059 | ||||||
chr21:46131085
|
C | G | 1 | a0001c0043t0002g0285 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.2462-869C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46131085 | ||||||
chr21:46131089
|
C | A | 1 | a0001c0001t0001g0229 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.2462-865C>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46131089 | ||||||
chr21:46131194
|
C | T | 2 | a0002c0031t0001g0218a0002c0031t0001g0220 | 2 | HG02055.hp2 HG02970.hp1 |
intron_variant | MODIFIER | c.2462-760C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46131194 | ||||||
chr21:46131208
|
G | A | 1 | a0001c0002t0002g0277 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.2462-746G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46131208 | ||||||
chr21:46131250
|
G | A | 33 | a0001c0007t0001g0302a0001c0007t0005g0059a0001c0007t0005g0060others(30): Show | 35 | HG00140.hp2 HG00423.hp2 HG00597.hp1 others(32): Show |
intron_variant | MODIFIER | c.2462-704G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46131250 | ||||||
chr21:46131306
|
C | T | 1 | a0001c0001t0001g0107 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.2462-648C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46131306 | ||||||
chr21:46131311
|
C | T | 12 | a0001c0044t0003g0197a0003c0008t0003g0044a0003c0008t0003g0045others(9): Show | 13 | HG00423.hp2 HG00597.hp1 HG01243.hp1 others(10): Show |
intron_variant | MODIFIER | c.2462-643C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46131311 | ||||||
chr21:46131468
|
G | T | 1 | a0002c0003t0001g0064 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.2462-486G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46131468 | ||||||
chr21:46131477
|
G | A | 1 | a0002c0003t0001g0082 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.2462-477G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46131477 | ||||||
chr21:46131485
|
G | A | 1 | a0001c0001t0001g0136 | 1 | NA18984.hp2 | intron_variant | MODIFIER | c.2462-469G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46131485 | ||||||
chr21:46131492
|
C | G | 1 | a0004c0005t0004g0230 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.2462-462C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46131492 | ||||||
chr21:46131525
|
T | C | 1 | a0001c0041t0001g0128 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.2462-429T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46131525 | ||||||
chr21:46131545
|
T | G | 29 | a0001c0007t0003g0246a0001c0007t0003g0247a0001c0007t0003g0263others(26): Show | 30 | HG00423.hp2 HG00597.hp1 HG01243.hp1 others(27): Show |
intron_variant | MODIFIER | c.2462-409T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46131545 | ||||||
chr21:46131583
|
ACACAGAC others(7): Show |
A | 1 | a0001c0004t0001g0168 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.2462-369_2462-356d others(16): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr21 | 46131583 | |||||
chr21:46131680
|
G | A | 8 | a0001c0007t0005g0059a0001c0007t0005g0060a0001c0007t0005g0061others(5): Show | 8 | HG01433.hp1 HG01891.hp1 HG02559.hp1 others(5): Show |
intron_variant | MODIFIER | c.2462-274G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46131680 | ||||||
chr21:46131705
|
G | A | 1 | a0001c0002t0002g0252 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.2462-249G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46131705 | ||||||
chr21:46131750
|
T | C | 40 | a0001c0007t0001g0302a0001c0007t0003g0246a0001c0007t0003g0247others(37): Show | 41 | HG00423.hp2 HG00597.hp1 HG00639.hp2 others(38): Show |
intron_variant | MODIFIER | c.2462-204T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46131750 | ||||||
chr21:46131782
|
C | T | 18 | a0001c0002t0002g0277a0001c0002t0002g0278a0001c0002t0002g0286others(15): Show | 18 | HG02145.hp1 HG02145.hp2 HG02257.hp1 others(15): Show |
intron_variant | MODIFIER | c.2462-172C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46131782 | ||||||
chr21:46131792
|
G | A | 1 | a0002c0003t0001g0082 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.2462-162G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46131792 | ||||||
chr21:46131837
|
C | T | 4 | a0001c0007t0005g0059a0001c0007t0005g0060a0001c0007t0005g0061others(1): Show | 4 | HG02559.hp1 HG02615.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.2462-117C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46131837 | ||||||
chr21:46131845
|
T | C | 3 | a0001c0004t0001g0248a0001c0023t0001g0250a0001c0023t0001g0251 | 3 | HG02630.hp1 HG02809.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.2462-109T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46131845 | ||||||
chr21:46131919
|
C | T | 164 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(161): Show | 170 | HG00140.hp1 HG00280.hp1 HG00438.hp2 others(167): Show |
intron_variant | MODIFIER | c.2462-35C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46131919 | ||||||
chr21:46131924
|
C | T | 4 | a0001c0002t0002g0280a0001c0002t0002g0300a0001c0002t0002g0301others(1): Show | 4 | NA18950.hp2 NA18975.hp1 NA19012.hp2 others(1): Show |
intron_variant | MODIFIER | c.2462-30C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46131924 | ||||||
chr21:46131941
|
C | T | 1 | a0001c0002t0002g0317 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.2462-13C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46131941 | ||||||
chr21:46131942
|
G | A | 1 | a0001c0004t0001g0174 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.2462-12G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46131942 |