geneid | 5378 |
---|---|
ensemblid | ENSG00000064933.19 |
hgncid | 9121 |
symbol | PMS1 |
name | PMS1 homolog 1, mismatch repair system component |
refseq_nuc | NM_000534.5 |
refseq_prot | NP_000525.1 |
ensembl_nuc | ENST00000441310.7 |
ensembl_prot | ENSP00000406490.3 |
mane_status | MANE Select |
chr | chr2 |
start | 189784450 |
end | 189877629 |
strand | + |
ver | v1.2 |
region | chr2:189784450-189877629 |
region5000 | chr2:189779450-189882629 |
regionname0 | PMS1_chr2_189784450_189877629 |
regionname5000 | PMS1_chr2_189779450_189882629 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 1/1 | 932 | 224 | 85 | 35 | 72 | 8 | 22 | 52 | PMS1_chr2_189779450_189882629 | PMS1 | copy fasta | chr2 | 189779450 | 189882629 |
a0002 | 0/0 | 932 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | copy fasta | chr2 | 189779450 | 189882629 |
a0003 | 0/0 | 932 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | copy fasta | chr2 | 189779450 | 189882629 |
a0004 | 0/0 | 932 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | copy fasta | chr2 | 189779450 | 189882629 |
a0005 | 0/0 | 932 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | copy fasta | chr2 | 189779450 | 189882629 |
a0006 | 0/0 | 932 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | copy fasta | chr2 | 189779450 | 189882629 |
a0007 | 0/0 | 932 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | copy fasta | chr2 | 189779450 | 189882629 |
a0008 | 0/0 | 932 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | copy fasta | chr2 | 189779450 | 189882629 |
a0009 | 0/0 | 932 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | copy fasta | chr2 | 189779450 | 189882629 |
chapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
c0001 | 1/1 | 2799 | 214 | 77 | 33 | 72 | 8 | 22 | PMS1_chr2_189779450_189882629 | PMS1 | copy fasta | chr2 | 189779450 | 189882629 |
c0002 | 0/0 | 2799 | 6 | 5 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | copy fasta | chr2 | 189779450 | 189882629 |
c0003 | 0/0 | 2799 | 4 | 3 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | copy fasta | chr2 | 189779450 | 189882629 |
c0004 | 0/0 | 2799 | 2 | 2 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | copy fasta | chr2 | 189779450 | 189882629 |
c0005 | 0/0 | 2799 | 2 | 2 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | copy fasta | chr2 | 189779450 | 189882629 |
c0006 | 0/0 | 2799 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | copy fasta | chr2 | 189779450 | 189882629 |
c0007 | 0/0 | 2799 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | copy fasta | chr2 | 189779450 | 189882629 |
c0008 | 0/0 | 2799 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | copy fasta | chr2 | 189779450 | 189882629 |
c0009 | 0/0 | 2799 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | copy fasta | chr2 | 189779450 | 189882629 |
c0010 | 0/0 | 2799 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | copy fasta | chr2 | 189779450 | 189882629 |
c0011 | 0/0 | 2799 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | copy fasta | chr2 | 189779450 | 189882629 |
thapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
t0001 | 1/1 | 358 | 122 | 39 | 19 | 40 | 4 | 18 | PMS1_chr2_189779450_189882629 | PMS1 | copy fasta | chr2 | 189779450 | 189882629 |
t0002 | 0/0 | 358 | 74 | 20 | 17 | 30 | 4 | 3 | PMS1_chr2_189779450_189882629 | PMS1 | copy fasta | chr2 | 189779450 | 189882629 |
t0003 | 0/0 | 358 | 16 | 16 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | copy fasta | chr2 | 189779450 | 189882629 |
t0004 | 0/0 | 358 | 14 | 14 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | copy fasta | chr2 | 189779450 | 189882629 |
t0005 | 0/0 | 358 | 3 | 3 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | copy fasta | chr2 | 189779450 | 189882629 |
t0006 | 0/0 | 358 | 2 | 0 | 0 | 2 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | copy fasta | chr2 | 189779450 | 189882629 |
t0007 | 0/0 | 358 | 2 | 2 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | copy fasta | chr2 | 189779450 | 189882629 |
t0008 | 0/0 | 358 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | copy fasta | chr2 | 189779450 | 189882629 |
ghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
g0001 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0002 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0010 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0015 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0016 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0018 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0019 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0020 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0027 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0038 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0041 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0045 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0046 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0047 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0050 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0051 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0052 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0055 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0056 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0057 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0061 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0062 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0063 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0064 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0066 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0067 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0073 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0074 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0075 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0076 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0077 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0078 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0080 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0083 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0089 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0092 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0093 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0095 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0096 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0100 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0101 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0108 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0109 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0112 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0115 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0117 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0118 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0119 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0120 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0121 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0122 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0124 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0125 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0127 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0128 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0130 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0134 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0137 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0138 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0140 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0141 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0143 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0145 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0148 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0149 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0150 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0151 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0152 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0153 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0156 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0157 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0161 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0164 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0165 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0166 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0167 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0168 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0169 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0171 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0174 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0175 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0176 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0177 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0178 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0179 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0180 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0182 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0183 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0184 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0186 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0187 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0188 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0189 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0190 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0191 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0192 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0193 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0194 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0195 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0196 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0198 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0200 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0201 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0202 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0203 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0204 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0205 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0206 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0207 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0208 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0209 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0210 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0211 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0212 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0213 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0214 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0215 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0216 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0217 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0218 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0219 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0220 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0221 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0222 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0223 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0224 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0225 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0226 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0227 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0228 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0229 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0230 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0231 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
g0232 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
achapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 1/1 | 2799 | 214 | 77 | 33 | 72 | 8 | 22 | PMS1_chr2_189779450_189882629 | PMS1 | copy fasta | chr2 | 189779450 | 189882629 |
a0001c0002 | 0/0 | 2799 | 6 | 5 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | copy fasta | chr2 | 189779450 | 189882629 |
a0001c0003 | 0/0 | 2799 | 4 | 3 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | copy fasta | chr2 | 189779450 | 189882629 |
a0002c0005 | 0/0 | 2799 | 2 | 2 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | copy fasta | chr2 | 189779450 | 189882629 |
a0003c0004 | 0/0 | 2799 | 2 | 2 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | copy fasta | chr2 | 189779450 | 189882629 |
a0004c0011 | 0/0 | 2799 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | copy fasta | chr2 | 189779450 | 189882629 |
a0005c0010 | 0/0 | 2799 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | copy fasta | chr2 | 189779450 | 189882629 |
a0006c0009 | 0/0 | 2799 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | copy fasta | chr2 | 189779450 | 189882629 |
a0007c0008 | 0/0 | 2799 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | copy fasta | chr2 | 189779450 | 189882629 |
a0008c0007 | 0/0 | 2799 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | copy fasta | chr2 | 189779450 | 189882629 |
a0009c0006 | 0/0 | 2799 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | copy fasta | chr2 | 189779450 | 189882629 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 1/1 | 3156 | 106 | 25 | 17 | 40 | 4 | 18 | PMS1_chr2_189779450_189882629 | PMS1 | copy fasta | chr2 | 189779450 | 189882629 |
a0001c0001t0002 | 0/0 | 3156 | 73 | 20 | 16 | 30 | 4 | 3 | PMS1_chr2_189779450_189882629 | PMS1 | copy fasta | chr2 | 189779450 | 189882629 |
a0001c0001t0003 | 0/0 | 3156 | 16 | 16 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | copy fasta | chr2 | 189779450 | 189882629 |
a0001c0001t0004 | 0/0 | 3156 | 13 | 13 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | copy fasta | chr2 | 189779450 | 189882629 |
a0001c0001t0005 | 0/0 | 3156 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | copy fasta | chr2 | 189779450 | 189882629 |
a0001c0001t0006 | 0/0 | 3156 | 2 | 0 | 0 | 2 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | copy fasta | chr2 | 189779450 | 189882629 |
a0001c0001t0007 | 0/0 | 3156 | 2 | 2 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | copy fasta | chr2 | 189779450 | 189882629 |
a0001c0001t0008 | 0/0 | 3156 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | copy fasta | chr2 | 189779450 | 189882629 |
a0001c0002t0001 | 0/0 | 3156 | 4 | 3 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | copy fasta | chr2 | 189779450 | 189882629 |
a0001c0002t0005 | 0/0 | 3156 | 2 | 2 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | copy fasta | chr2 | 189779450 | 189882629 |
a0001c0003t0001 | 0/0 | 3156 | 4 | 3 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | copy fasta | chr2 | 189779450 | 189882629 |
a0002c0005t0001 | 0/0 | 3156 | 2 | 2 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | copy fasta | chr2 | 189779450 | 189882629 |
a0003c0004t0001 | 0/0 | 3156 | 2 | 2 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | copy fasta | chr2 | 189779450 | 189882629 |
a0004c0011t0004 | 0/0 | 3156 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | copy fasta | chr2 | 189779450 | 189882629 |
a0005c0010t0001 | 0/0 | 3156 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | copy fasta | chr2 | 189779450 | 189882629 |
a0006c0009t0002 | 0/0 | 3156 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | copy fasta | chr2 | 189779450 | 189882629 |
a0007c0008t0001 | 0/0 | 3156 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | copy fasta | chr2 | 189779450 | 189882629 |
a0008c0007t0001 | 0/0 | 3156 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | copy fasta | chr2 | 189779450 | 189882629 |
a0009c0006t0001 | 0/0 | 3156 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | copy fasta | chr2 | 189779450 | 189882629 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0015 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0016 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0018 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0019 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0020 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0115 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0117 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0118 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0120 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0121 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0122 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0124 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0125 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0127 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0128 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0134 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0137 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0138 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0140 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0141 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0143 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0145 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0148 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0149 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0150 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0151 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0152 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0153 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0156 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0157 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0161 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0164 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0165 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0166 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0167 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0168 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0169 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0171 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0174 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0175 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0176 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0177 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0178 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0179 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0180 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0183 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0184 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0186 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0187 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0188 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0189 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0190 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0191 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0192 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0193 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0194 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0195 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0196 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0198 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0200 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0201 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0202 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0203 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0204 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0205 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0206 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0207 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0208 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0209 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0210 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0001g0231 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0001 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0027 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0045 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0046 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0047 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0050 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0051 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0052 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0055 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0056 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0057 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0074 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0075 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0076 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0077 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0078 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0080 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0083 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0089 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0092 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0093 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0095 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0096 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0100 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0101 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0108 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0109 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0112 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0130 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0002g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0003g0002 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0003g0211 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0003g0212 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0003g0213 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0003g0214 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0003g0215 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0003g0218 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0003g0219 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0003g0220 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0003g0221 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0003g0222 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0003g0223 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0003g0224 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0003g0225 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0003g0226 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0004g0061 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0004g0062 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0004g0063 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0004g0064 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0004g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0004g0066 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0004g0067 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0004g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0004g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0004g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0004g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0004g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0004g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0005g0119 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0006g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0006g0182 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0007g0216 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0007g0217 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0001t0008g0038 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0002t0001g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0002t0001g0010 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0002t0001g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0002t0001g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0002t0005g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0002t0005g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0003t0001g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0003t0001g0041 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0003t0001g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0001c0003t0001g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0002c0005t0001g0227 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0002c0005t0001g0230 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0003c0004t0001g0228 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0003c0004t0001g0229 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0004c0011t0004g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0005c0010t0001g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0006c0009t0002g0073 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0007c0008t0001g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0008c0007t0001g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
a0009c0006t0001g0232 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00099 | hp1 | a0001 | c0001 | t0001 | g0149 | EUR | GBR | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG00099 | hp2 | a0001 | c0001 | t0002 | g0045 | EUR | GBR | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG00140 | hp1 | a0001 | c0001 | t0002 | g0046 | EUR | GBR | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG00140 | hp2 | a0001 | c0001 | t0001 | g0191 | EUR | GBR | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG00280 | hp1 | a0001 | c0001 | t0002 | g0055 | EUR | FIN | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG00280 | hp2 | a0001 | c0001 | t0001 | g0150 | EUR | FIN | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG00423 | hp1 | a0001 | c0001 | t0001 | g0153 | EAS | CHS | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG00423 | hp2 | a0001 | c0001 | t0002 | g0091 | EAS | CHS | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG00544 | hp1 | a0001 | c0001 | t0002 | g0103 | EAS | CHS | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG00544 | hp2 | a0001 | c0001 | t0001 | g0187 | EAS | CHS | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG00558 | hp1 | a0001 | c0001 | t0001 | g0194 | EAS | CHS | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG00558 | hp2 | a0001 | c0001 | t0002 | g0030 | EAS | CHS | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG00597 | hp1 | a0001 | c0001 | t0001 | g0210 | EAS | CHS | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG00597 | hp2 | a0001 | c0001 | t0002 | g0087 | EAS | CHS | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG00642 | hp1 | a0001 | c0001 | t0001 | g0190 | AMR | PUR | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG00642 | hp2 | a0001 | c0001 | t0002 | g0056 | AMR | PUR | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG00733 | hp1 | a0001 | c0001 | t0001 | g0156 | AMR | PUR | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG00733 | hp2 | a0006 | c0009 | t0002 | g0073 | AMR | PUR | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG01069 | hp1 | a0001 | c0002 | t0001 | g0010 | AMR | PUR | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG01069 | hp2 | a0001 | c0001 | t0001 | g0189 | AMR | PUR | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG01081 | hp1 | a0001 | c0001 | t0001 | g0143 | AMR | PUR | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG01081 | hp2 | a0001 | c0003 | t0001 | g0041 | AMR | PUR | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG01255 | hp1 | a0001 | c0001 | t0001 | g0207 | AMR | CLM | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG01255 | hp2 | a0001 | c0001 | t0002 | g0027 | AMR | CLM | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG01257 | hp1 | a0001 | c0001 | t0001 | g0157 | AMR | CLM | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG01257 | hp2 | a0001 | c0001 | t0002 | g0095 | AMR | CLM | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG01258 | hp1 | a0001 | c0001 | t0002 | g0047 | AMR | CLM | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG01258 | hp2 | a0001 | c0001 | t0002 | g0096 | AMR | CLM | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG01261 | hp1 | a0001 | c0001 | t0001 | g0121 | AMR | CLM | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG01261 | hp2 | a0001 | c0001 | t0002 | g0093 | AMR | CLM | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG01346 | hp1 | a0001 | c0001 | t0002 | g0077 | AMR | CLM | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG01346 | hp2 | a0001 | c0001 | t0001 | g0202 | AMR | CLM | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG01496 | hp1 | a0001 | c0001 | t0001 | g0171 | AMR | CLM | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG01496 | hp2 | a0001 | c0001 | t0002 | g0109 | AMR | CLM | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG01884 | hp1 | a0007 | c0008 | t0001 | g0004 | AFR | ACB | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG01884 | hp2 | a0001 | c0001 | t0003 | g0002 | AFR | ACB | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG01891 | hp1 | a0001 | c0001 | t0002 | g0032 | AFR | ACB | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG01891 | hp2 | a0001 | c0001 | t0003 | g0219 | AFR | ACB | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG01928 | hp1 | a0001 | c0001 | t0001 | g0174 | AMR | PEL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG01928 | hp2 | a0001 | c0001 | t0002 | g0076 | AMR | PEL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG01943 | hp1 | a0001 | c0001 | t0001 | g0148 | AMR | PEL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG01943 | hp2 | a0001 | c0001 | t0002 | g0100 | AMR | PEL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG01978 | hp1 | a0001 | c0001 | t0002 | g0101 | AMR | PEL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG01978 | hp2 | a0001 | c0001 | t0001 | g0176 | AMR | PEL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG01981 | hp1 | a0001 | c0001 | t0002 | g0074 | AMR | PEL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG01981 | hp2 | a0001 | c0001 | t0001 | g0186 | AMR | PEL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02004 | hp1 | a0001 | c0001 | t0002 | g0078 | AMR | PEL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02004 | hp2 | a0001 | c0001 | t0001 | g0178 | AMR | PEL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02055 | hp1 | a0001 | c0002 | t0001 | g0013 | AFR | ACB | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02055 | hp2 | a0001 | c0001 | t0001 | g0196 | AFR | ACB | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02074 | hp1 | a0001 | c0001 | t0001 | g0181 | EAS | KHV | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02074 | hp2 | a0001 | c0001 | t0002 | g0054 | EAS | KHV | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02083 | hp1 | a0001 | c0001 | t0001 | g0185 | EAS | KHV | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02083 | hp2 | a0001 | c0001 | t0001 | g0146 | EAS | KHV | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02135 | hp1 | a0001 | c0001 | t0001 | g0144 | EAS | KHV | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02135 | hp2 | a0001 | c0001 | t0001 | g0129 | EAS | KHV | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02145 | hp1 | a0001 | c0001 | t0003 | g0223 | AFR | ACB | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02145 | hp2 | a0001 | c0001 | t0001 | g0188 | AFR | ACB | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02148 | hp1 | a0001 | c0001 | t0001 | g0166 | AMR | PEL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02148 | hp2 | a0001 | c0001 | t0002 | g0083 | AMR | PEL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02155 | hp1 | a0001 | c0001 | t0002 | g0053 | EAS | CDX | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02155 | hp2 | a0001 | c0001 | t0001 | g0193 | EAS | CDX | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02165 | hp1 | a0001 | c0001 | t0001 | g0172 | EAS | CDX | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02165 | hp2 | a0001 | c0001 | t0002 | g0028 | EAS | CDX | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02257 | hp1 | a0001 | c0001 | t0002 | g0048 | AFR | ACB | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02257 | hp2 | a0001 | c0001 | t0001 | g0124 | AFR | ACB | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02273 | hp1 | a0001 | c0001 | t0002 | g0075 | AMR | PEL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02273 | hp2 | a0001 | c0001 | t0001 | g0183 | AMR | PEL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02280 | hp1 | a0001 | c0003 | t0001 | g0014 | AFR | ACB | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02280 | hp2 | a0001 | c0001 | t0002 | g0034 | AFR | ACB | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02451 | hp1 | a0001 | c0001 | t0002 | g0089 | AFR | ACB | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02451 | hp2 | a0001 | c0001 | t0002 | g0130 | AFR | ACB | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02523 | hp1 | a0001 | c0001 | t0002 | g0108 | EAS | KHV | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02523 | hp2 | a0001 | c0001 | t0002 | g0086 | EAS | KHV | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02572 | hp1 | a0001 | c0001 | t0003 | g0215 | AFR | GWD | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02572 | hp2 | a0001 | c0001 | t0004 | g0067 | AFR | GWD | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02602 | hp1 | a0001 | c0001 | t0001 | g0180 | SAS | PJL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02602 | hp2 | a0001 | c0001 | t0002 | g0050 | SAS | PJL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02615 | hp1 | a0001 | c0001 | t0001 | g0135 | AFR | GWD | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02615 | hp2 | a0001 | c0001 | t0002 | g0039 | AFR | GWD | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02622 | hp1 | a0001 | c0001 | t0002 | g0111 | AFR | GWD | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02622 | hp2 | a0001 | c0001 | t0004 | g0066 | AFR | GWD | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02630 | hp1 | a0001 | c0001 | t0001 | g0126 | AFR | GWD | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02630 | hp2 | a0001 | c0001 | t0002 | g0036 | AFR | GWD | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02647 | hp1 | a0001 | c0001 | t0004 | g0072 | AFR | GWD | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02647 | hp2 | a0001 | c0001 | t0007 | g0217 | AFR | GWD | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02717 | hp1 | a0001 | c0001 | t0007 | g0216 | AFR | GWD | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02717 | hp2 | a0001 | c0001 | t0002 | g0037 | AFR | GWD | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02723 | hp1 | a0001 | c0001 | t0002 | g0092 | AFR | GWD | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02723 | hp2 | a0001 | c0001 | t0001 | g0136 | AFR | GWD | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02735 | hp1 | a0001 | c0001 | t0001 | g0015 | SAS | PJL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02735 | hp2 | a0001 | c0001 | t0008 | g0038 | SAS | PJL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02818 | hp1 | a0004 | c0011 | t0004 | g0070 | AFR | GWD | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02818 | hp2 | a0001 | c0001 | t0001 | g0169 | AFR | GWD | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02886 | hp1 | a0001 | c0001 | t0002 | g0033 | AFR | GWD | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02886 | hp2 | a0001 | c0001 | t0001 | g0125 | AFR | GWD | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02895 | hp1 | a0001 | c0001 | t0003 | g0218 | AFR | GWD | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02895 | hp2 | a0003 | c0004 | t0001 | g0228 | AFR | GWD | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02896 | hp1 | a0001 | c0001 | t0001 | g0168 | AFR | GWD | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02896 | hp2 | a0001 | c0001 | t0002 | g0060 | AFR | GWD | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02897 | hp1 | a0003 | c0004 | t0001 | g0229 | AFR | GWD | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02897 | hp2 | a0001 | c0001 | t0001 | g0167 | AFR | GWD | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02922 | hp1 | a0001 | c0001 | t0003 | g0220 | AFR | ESN | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02922 | hp2 | a0001 | c0001 | t0004 | g0065 | AFR | ESN | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02965 | hp1 | a0001 | c0001 | t0004 | g0131 | AFR | ESN | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02965 | hp2 | a0001 | c0001 | t0001 | g0206 | AFR | ESN | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02970 | hp1 | a0001 | c0001 | t0001 | g0123 | AFR | ESN | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02970 | hp2 | a0001 | c0001 | t0002 | g0043 | AFR | ESN | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02976 | hp1 | a0001 | c0001 | t0001 | g0122 | AFR | ESN | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02976 | hp2 | a0001 | c0001 | t0004 | g0069 | AFR | ESN | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG03041 | hp1 | a0001 | c0001 | t0004 | g0071 | AFR | GWD | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG03041 | hp2 | a0001 | c0001 | t0003 | g0226 | AFR | GWD | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG03098 | hp1 | a0001 | c0001 | t0003 | g0213 | AFR | MSL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG03098 | hp2 | a0001 | c0001 | t0001 | g0164 | AFR | MSL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG03130 | hp1 | a0001 | c0001 | t0003 | g0002 | AFR | ESN | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG03130 | hp2 | a0001 | c0001 | t0001 | g0205 | AFR | ESN | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG03139 | hp1 | a0009 | c0006 | t0001 | g0232 | AFR | ESN | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG03139 | hp2 | a0001 | c0001 | t0004 | g0064 | AFR | ESN | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG03209 | hp1 | a0001 | c0001 | t0002 | g0031 | AFR | MSL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG03209 | hp2 | a0002 | c0005 | t0001 | g0227 | AFR | MSL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG03225 | hp1 | a0001 | c0001 | t0001 | g0022 | AFR | MSL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG03225 | hp2 | a0001 | c0002 | t0001 | g0012 | AFR | MSL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG03239 | hp1 | a0001 | c0001 | t0001 | g0141 | SAS | PJL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG03239 | hp2 | a0001 | c0001 | t0001 | g0184 | SAS | PJL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG03453 | hp1 | a0001 | c0003 | t0001 | g0042 | AFR | MSL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG03453 | hp2 | a0001 | c0001 | t0001 | g0117 | AFR | MSL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG03486 | hp1 | a0005 | c0010 | t0001 | g0007 | AFR | MSL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG03486 | hp2 | a0001 | c0001 | t0003 | g0221 | AFR | MSL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG03490 | hp1 | a0001 | c0001 | t0001 | g0177 | SAS | PJL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG03490 | hp2 | a0001 | c0001 | t0001 | g0127 | SAS | PJL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG03491 | hp1 | a0001 | c0001 | t0001 | g0020 | SAS | PJL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG03491 | hp2 | a0001 | c0001 | t0001 | g0138 | SAS | PJL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG03516 | hp1 | a0001 | c0001 | t0004 | g0062 | AFR | ESN | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG03516 | hp2 | a0001 | c0001 | t0002 | g0035 | AFR | ESN | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG03540 | hp1 | a0001 | c0001 | t0002 | g0040 | AFR | GWD | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG03540 | hp2 | a0001 | c0001 | t0003 | g0222 | AFR | GWD | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG03579 | hp1 | a0001 | c0001 | t0002 | g0112 | AFR | MSL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG03579 | hp2 | a0001 | c0001 | t0003 | g0212 | AFR | MSL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG03710 | hp1 | a0001 | c0001 | t0001 | g0018 | SAS | PJL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG03710 | hp2 | a0001 | c0001 | t0002 | g0052 | SAS | PJL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG03831 | hp1 | a0001 | c0001 | t0001 | g0128 | SAS | BEB | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG03831 | hp2 | a0001 | c0001 | t0001 | g0161 | SAS | BEB | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG03834 | hp1 | a0001 | c0001 | t0001 | g0115 | SAS | BEB | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG03834 | hp2 | a0001 | c0001 | t0001 | g0208 | SAS | BEB | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG03942 | hp1 | a0001 | c0001 | t0001 | g0200 | SAS | BEB | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG03942 | hp2 | a0001 | c0001 | t0001 | g0016 | SAS | BEB | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG04115 | hp1 | a0001 | c0001 | t0001 | g0019 | SAS | STU | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG04115 | hp2 | a0001 | c0001 | t0001 | g0198 | SAS | STU | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA18522 | hp1 | a0002 | c0005 | t0001 | g0230 | AFR | YRI | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA18522 | hp2 | a0001 | c0001 | t0001 | g0021 | AFR | YRI | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA18906 | hp1 | a0001 | c0001 | t0003 | g0211 | AFR | YRI | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA18906 | hp2 | a0001 | c0001 | t0003 | g0225 | AFR | YRI | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA18939 | hp1 | a0001 | c0001 | t0001 | g0114 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA18939 | hp2 | a0001 | c0001 | t0001 | g0017 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA18941 | hp1 | a0001 | c0001 | t0002 | g0107 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA18941 | hp2 | a0001 | c0001 | t0006 | g0173 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA18948 | hp1 | a0001 | c0001 | t0001 | g0195 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA18948 | hp2 | a0001 | c0001 | t0002 | g0106 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA18951 | hp1 | a0001 | c0001 | t0002 | g0102 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA18951 | hp2 | a0001 | c0001 | t0001 | g0025 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA18953 | hp1 | a0001 | c0001 | t0002 | g0105 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA18953 | hp2 | a0001 | c0001 | t0001 | g0152 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA18956 | hp1 | a0001 | c0001 | t0001 | g0155 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA18956 | hp2 | a0001 | c0001 | t0001 | g0147 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA18959 | hp1 | a0001 | c0001 | t0002 | g0098 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA18959 | hp2 | a0001 | c0001 | t0001 | g0158 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA18962 | hp1 | a0001 | c0001 | t0002 | g0029 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA18962 | hp2 | a0001 | c0001 | t0001 | g0139 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA18964 | hp1 | a0001 | c0001 | t0001 | g0163 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA18964 | hp2 | a0001 | c0001 | t0002 | g0088 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA18967 | hp1 | a0001 | c0001 | t0002 | g0094 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA18967 | hp2 | a0001 | c0001 | t0001 | g0159 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA18969 | hp1 | a0001 | c0001 | t0002 | g0097 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA18969 | hp2 | a0001 | c0001 | t0006 | g0182 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA18970 | hp1 | a0001 | c0001 | t0001 | g0199 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA18970 | hp2 | a0001 | c0001 | t0002 | g0099 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA18982 | hp1 | a0001 | c0001 | t0002 | g0082 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA18982 | hp2 | a0001 | c0001 | t0001 | g0203 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA18983 | hp1 | a0001 | c0001 | t0001 | g0154 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA18983 | hp2 | a0001 | c0001 | t0001 | g0024 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA18988 | hp1 | a0001 | c0001 | t0002 | g0084 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA18988 | hp2 | a0001 | c0001 | t0002 | g0058 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA19000 | hp1 | a0001 | c0001 | t0001 | g0113 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA19000 | hp2 | a0001 | c0001 | t0002 | g0049 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA19003 | hp1 | a0001 | c0001 | t0001 | g0175 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA19003 | hp2 | a0001 | c0001 | t0001 | g0137 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA19005 | hp1 | a0001 | c0001 | t0001 | g0201 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA19005 | hp2 | a0001 | c0001 | t0002 | g0085 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA19011 | hp1 | a0001 | c0001 | t0002 | g0132 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA19011 | hp2 | a0001 | c0001 | t0001 | g0170 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA19030 | hp1 | a0001 | c0001 | t0001 | g0118 | AFR | LWK | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA19030 | hp2 | a0001 | c0002 | t0005 | g0011 | AFR | LWK | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA19043 | hp1 | a0001 | c0001 | t0004 | g0133 | AFR | LWK | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA19043 | hp2 | a0001 | c0001 | t0001 | g0003 | AFR | LWK | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA19057 | hp1 | a0001 | c0001 | t0001 | g0162 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA19057 | hp2 | a0001 | c0001 | t0002 | g0090 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA19068 | hp1 | a0001 | c0001 | t0001 | g0160 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA19068 | hp2 | a0001 | c0001 | t0002 | g0081 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA19075 | hp1 | a0001 | c0001 | t0001 | g0204 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA19075 | hp2 | a0001 | c0001 | t0002 | g0110 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA19077 | hp1 | a0001 | c0001 | t0001 | g0165 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA19077 | hp2 | a0001 | c0001 | t0002 | g0059 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA19079 | hp1 | a0001 | c0001 | t0001 | g0026 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA19079 | hp2 | a0001 | c0001 | t0001 | g0197 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA19080 | hp1 | a0001 | c0001 | t0001 | g0140 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA19080 | hp2 | a0001 | c0001 | t0001 | g0116 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA19086 | hp1 | a0001 | c0001 | t0001 | g0142 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA19086 | hp2 | a0001 | c0001 | t0002 | g0104 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA19240 | hp1 | a0001 | c0001 | t0001 | g0145 | AFR | YRI | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA19240 | hp2 | a0001 | c0001 | t0003 | g0224 | AFR | YRI | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA20129 | hp1 | a0001 | c0001 | t0004 | g0063 | AFR | ASW | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA20129 | hp2 | a0001 | c0001 | t0002 | g0001 | AFR | ASW | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA20752 | hp1 | a0001 | c0001 | t0002 | g0057 | EUR | TSI | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA20752 | hp2 | a0001 | c0001 | t0001 | g0151 | EUR | TSI | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA20905 | hp1 | a0001 | c0001 | t0002 | g0080 | SAS | GIH | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA20905 | hp2 | a0001 | c0001 | t0001 | g0179 | SAS | GIH | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG01123 | hp1 | a0001 | c0001 | t0001 | g0134 | AMR | CLM | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG01123 | hp2 | a0001 | c0001 | t0002 | g0051 | AMR | CLM | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02109 | hp1 | a0001 | c0001 | t0001 | g0120 | AFR | ACB | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02109 | hp2 | a0008 | c0007 | t0001 | g0005 | AFR | ACB | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02486 | hp1 | a0001 | c0001 | t0002 | g0079 | AFR | ACB | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02486 | hp2 | a0001 | c0001 | t0005 | g0119 | AFR | ACB | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02559 | hp1 | a0001 | c0003 | t0001 | g0044 | AFR | ACB | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG02559 | hp2 | a0001 | c0001 | t0004 | g0068 | AFR | ACB | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG03471 | hp1 | a0001 | c0002 | t0005 | g0008 | AFR | MSL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG03471 | hp2 | a0001 | c0001 | t0003 | g0214 | AFR | MSL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG06807 | hp1 | a0001 | c0001 | t0001 | g0006 | AFR | USA | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
HG06807 | hp2 | a0001 | c0001 | t0004 | g0061 | AFR | USA | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA20300 | hp1 | a0001 | c0001 | t0002 | g0001 | AFR | USA | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA20300 | hp2 | a0001 | c0002 | t0001 | g0009 | AFR | USA | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA21309 | hp1 | a0001 | c0001 | t0001 | g0023 | AFR | LWK | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
NA21309 | hp2 | a0001 | c0001 | t0001 | g0209 | AFR | LWK | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
homoSapiens_chm13v2 | hp1 | a0001 | c0001 | t0001 | g0192 | REF | REF | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
homoSapiens_grch38 | hp1 | a0001 | c0001 | t0001 | g0231 | REF | REF | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr2:189854453
|
T | C | 3 | a0002a0003a0009 | 5 | HG02895.hp2 HG02897.hp1 HG03139.hp1 others(2): Show |
missense_variant | MODERATE | c.1181T>C | p.Met394Thr | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/13 | 1345/3156 | 1181/2799 | 394/932 | chr2 | 189854453 | ||
chr2:189854773
|
G | A | 3 | a0002a0003a0009 | 5 | HG02895.hp2 HG02897.hp1 HG03139.hp1 others(2): Show |
missense_variant | MODERATE | c.1501G>A | p.Gly501Arg | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/13 | 1665/3156 | 1501/2799 | 501/932 | chr2 | 189854773 | ||
chr2:189854915
|
A | G | 1 | a0009 | 1 | HG03139.hp1 | missense_variant | MODERATE | c.1643A>G | p.Lys548Arg | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/13 | 1807/3156 | 1643/2799 | 548/932 | chr2 | 189854915 | ||
chr2:189864053
|
G | A | 1 | a0008 | 1 | HG02109.hp2 | missense_variant | MODERATE | c.2167G>A | p.Glu723Lys | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/13 | 2331/3156 | 2167/2799 | 723/932 | chr2 | 189864053 | ||
chr2:189864197
|
C | A | 1 | a0003 | 2 | HG02895.hp2 HG02897.hp1 |
missense_variant | MODERATE | c.2311C>A | p.Pro771Thr | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/13 | 2475/3156 | 2311/2799 | 771/932 | chr2 | 189864197 | ||
chr2:189864227
|
A | G | 1 | a0004 | 1 | HG02818.hp1 | missense_variant&splice_region_variant | MODERATE | c.2341A>G | p.Ser781Gly | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/13 | 2505/3156 | 2341/2799 | 781/932 | chr2 | 189864227 | ||
chr2:189867833
|
T | C | 3 | a0002a0003a0009 | 5 | HG02895.hp2 HG02897.hp1 HG03139.hp1 others(2): Show |
missense_variant | MODERATE | c.2377T>C | p.Tyr793His | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/13 | 2541/3156 | 2377/2799 | 793/932 | chr2 | 189867833 | ||
chr2:189867873
|
C | G | 1 | a0005 | 1 | HG03486.hp1 | missense_variant | MODERATE | c.2417C>G | p.Thr806Ser | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/13 | 2581/3156 | 2417/2799 | 806/932 | chr2 | 189867873 | ||
chr2:189867876
|
A | T | 1 | a0006 | 1 | HG00733.hp2 | missense_variant | MODERATE | c.2420A>T | p.Tyr807Phe | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/13 | 2584/3156 | 2420/2799 | 807/932 | chr2 | 189867876 | ||
chr2:189873625
|
G | A | 1 | a0007 | 1 | HG01884.hp1 | missense_variant | MODERATE | c.2603G>A | p.Cys868Tyr | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/13 | 2767/3156 | 2603/2799 | 868/932 | chr2 | 189873625 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr2:189795777
|
T | C | 1 | a0001c0003 | 4 | HG01081.hp2 HG02280.hp1 HG02559.hp1 others(1): Show |
synonymous_variant | LOW | c.141T>C | p.Tyr47Tyr | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/13 | 305/3156 | 141/2799 | 47/932 | chr2 | 189795777 | ||
chr2:189805681
|
T | C | 1 | a0001c0002 | 6 | HG01069.hp1 HG02055.hp1 HG03225.hp2 others(3): Show |
synonymous_variant | LOW | c.345T>C | p.Asp115Asp | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/13 | 509/3156 | 345/2799 | 115/932 | chr2 | 189805681 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr2:189784514
|
G | T | 2 | a0001c0001t0003a0001c0001t0007 | 18 | HG01884.hp2 HG01891.hp2 HG02145.hp1 others(15): Show |
5_prime_UTR_variant | MODIFIER | c.-100G>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/13 | 7296 | chr2 | 189784514 | |||||
chr2:189784515
|
G | T | 1 | a0001c0001t0008 | 1 | HG02735.hp2 | 5_prime_UTR_variant | MODIFIER | c.-99G>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/13 | 7295 | chr2 | 189784515 | |||||
chr2:189784567
|
A | G | 1 | a0001c0001t0006 | 2 | NA18941.hp2 NA18969.hp2 |
5_prime_UTR_variant | MODIFIER | c.-47A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/13 | 7243 | chr2 | 189784567 | |||||
chr2:189784590
|
G | C | 5 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(2): Show | 89 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(86): Show |
5_prime_UTR_variant | MODIFIER | c.-24G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/13 | 7220 | chr2 | 189784590 | |||||
chr2:189877446
|
T | A | 5 | a0001c0001t0004a0001c0001t0005a0001c0001t0007others(2): Show | 19 | HG02486.hp2 HG02559.hp2 HG02572.hp2 others(16): Show |
3_prime_UTR_variant | MODIFIER | c.*10T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 13/13 | 10 | chr2 | 189877446 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr2:189784667
|
G | A | 5 | a0001c0001t0001g0003a0001c0001t0001g0006a0005c0010t0001g0007others(2): Show | 5 | HG01884.hp1 HG02109.hp2 HG03486.hp1 others(2): Show |
intron_variant | MODIFIER | c.-21+74G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189784667 | ||||||
chr2:189784669
|
T | C | 6 | a0001c0002t0001g0009a0001c0002t0001g0010a0001c0002t0001g0012others(3): Show | 6 | HG01069.hp1 HG02055.hp1 HG03225.hp2 others(3): Show |
intron_variant | MODIFIER | c.-21+76T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189784669 | ||||||
chr2:189784761
|
T | C | 226 | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0015others(223): Show | 228 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(225): Show |
intron_variant | MODIFIER | c.-21+168T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189784761 | ||||||
chr2:189784773
|
C | T | 17 | a0001c0001t0003g0002a0001c0001t0003g0211a0001c0001t0003g0212others(14): Show | 18 | HG01884.hp2 HG01891.hp2 HG02145.hp1 others(15): Show |
intron_variant | MODIFIER | c.-21+180C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189784773 | ||||||
chr2:189784856
|
C | T | 77 | a0001c0001t0001g0134a0001c0001t0001g0135a0001c0001t0001g0136others(74): Show | 77 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(74): Show |
intron_variant | MODIFIER | c.-21+263C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189784856 | ||||||
chr2:189784986
|
T | G | 226 | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0015others(223): Show | 228 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(225): Show |
intron_variant | MODIFIER | c.-21+393T>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189784986 | ||||||
chr2:189785163
|
A | G | 1 | a0001c0001t0004g0133 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.-21+570A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189785163 | ||||||
chr2:189785232
|
G | A | 77 | a0001c0001t0001g0134a0001c0001t0001g0135a0001c0001t0001g0136others(74): Show | 77 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(74): Show |
intron_variant | MODIFIER | c.-21+639G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189785232 | ||||||
chr2:189785285
|
A | T | 1 | a0001c0001t0001g0210 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.-21+692A>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189785285 | ||||||
chr2:189785390
|
C | A | 1 | a0001c0001t0001g0134 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.-21+797C>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189785390 | ||||||
chr2:189785414
|
C | T | 1 | a0001c0001t0002g0132 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.-21+821C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189785414 | ||||||
chr2:189785566
|
C | G | 1 | a0001c0001t0001g0209 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-21+973C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189785566 | ||||||
chr2:189785731
|
G | GCTTT | 226 | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0015others(223): Show | 228 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(225): Show |
intron_variant | MODIFIER | c.-21+1141_-21+1142i others(6): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | 189785731 | |||||
chr2:189785831
|
G | A | 1 | a0001c0003t0001g0014 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.-21+1238G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189785831 | ||||||
chr2:189785956
|
C | G | 16 | a0001c0001t0003g0002a0001c0001t0003g0212a0001c0001t0003g0213others(13): Show | 17 | HG01884.hp2 HG01891.hp2 HG02145.hp1 others(14): Show |
intron_variant | MODIFIER | c.-21+1363C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189785956 | ||||||
chr2:189786204
|
G | T | 227 | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0015others(224): Show | 229 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(226): Show |
intron_variant | MODIFIER | c.-21+1611G>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189786204 | ||||||
chr2:189786325
|
G | A | 1 | a0001c0001t0001g0015 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.-21+1732G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189786325 | ||||||
chr2:189786339
|
A | C | 1 | a0001c0001t0001g0208 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.-21+1746A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189786339 | ||||||
chr2:189786441
|
G | T | 1 | a0001c0001t0004g0131 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.-21+1848G>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189786441 | ||||||
chr2:189786557
|
C | T | 1 | a0001c0001t0002g0130 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.-21+1964C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189786557 | ||||||
chr2:189786714
|
A | G | 215 | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0015others(212): Show | 217 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(214): Show |
intron_variant | MODIFIER | c.-21+2121A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189786714 | ||||||
chr2:189786773
|
C | T | 22 | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0113others(19): Show | 22 | HG01261.hp1 HG01884.hp1 HG02109.hp1 others(19): Show |
intron_variant | MODIFIER | c.-21+2180C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189786773 | ||||||
chr2:189786778
|
G | A | 1 | a0001c0001t0001g0135 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.-21+2185G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189786778 | ||||||
chr2:189786848
|
T | C | 6 | a0001c0002t0001g0009a0001c0002t0001g0010a0001c0002t0001g0012others(3): Show | 6 | HG01069.hp1 HG02055.hp1 HG03225.hp2 others(3): Show |
intron_variant | MODIFIER | c.-21+2255T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189786848 | ||||||
chr2:189786977
|
C | T | 1 | a0001c0001t0001g0207 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.-21+2384C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189786977 | ||||||
chr2:189787041
|
G | A | 1 | a0001c0001t0004g0133 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.-21+2448G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189787041 | ||||||
chr2:189787283
|
A | G | 17 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0115others(14): Show | 17 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(14): Show |
intron_variant | MODIFIER | c.-21+2690A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189787283 | ||||||
chr2:189787368
|
T | C | 215 | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0015others(212): Show | 217 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(214): Show |
intron_variant | MODIFIER | c.-21+2775T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189787368 | ||||||
chr2:189787537
|
T | C | 226 | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0015others(223): Show | 228 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(225): Show |
intron_variant | MODIFIER | c.-21+2944T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189787537 | ||||||
chr2:189787593
|
TCAC | T | 17 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0115others(14): Show | 17 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(14): Show |
intron_variant | MODIFIER | c.-21+3001_-21+3003d others(5): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189787593 | ||||||
chr2:189787596
|
C | T | 1 | a0005c0010t0001g0007 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.-21+3003C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189787596 | ||||||
chr2:189787601
|
T | A | 17 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0115others(14): Show | 17 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(14): Show |
intron_variant | MODIFIER | c.-21+3008T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189787601 | ||||||
chr2:189787603
|
A | AT | 192 | a0001c0001t0001g0015a0001c0001t0001g0134a0001c0001t0001g0135others(189): Show | 194 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(191): Show |
intron_variant | MODIFIER | c.-21+3020dupT | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | 189787603 | |||||
chr2:189787603
|
A | T | 17 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0115others(14): Show | 17 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(14): Show |
intron_variant | MODIFIER | c.-21+3010A>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189787603 | ||||||
chr2:189787608
|
T | TA | 5 | a0001c0001t0001g0003a0001c0001t0001g0006a0005c0010t0001g0007others(2): Show | 5 | HG01884.hp1 HG02109.hp2 HG03486.hp1 others(2): Show |
intron_variant | MODIFIER | c.-21+3015_-21+3016i others(3): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189787608 | ||||||
chr2:189787706
|
G | T | 1 | a0001c0001t0001g0206 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.-21+3113G>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189787706 | ||||||
chr2:189787723
|
G | A | 3 | a0001c0001t0002g0028a0001c0001t0002g0029a0001c0001t0002g0030 | 3 | HG00558.hp2 HG02165.hp2 NA18962.hp1 |
intron_variant | MODIFIER | c.-21+3130G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189787723 | ||||||
chr2:189787931
|
C | T | 1 | a0001c0001t0002g0112 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.-21+3338C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189787931 | ||||||
chr2:189787953
|
T | C | 215 | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0015others(212): Show | 217 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(214): Show |
intron_variant | MODIFIER | c.-21+3360T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189787953 | ||||||
chr2:189788105
|
A | G | 1 | a0001c0001t0001g0006 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.-21+3512A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189788105 | ||||||
chr2:189788106
|
T | C | 1 | a0001c0001t0001g0136 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.-21+3513T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189788106 | ||||||
chr2:189788269
|
G | A | 1 | a0001c0001t0001g0137 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.-20-3521G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189788269 | ||||||
chr2:189788335
|
T | C | 215 | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0015others(212): Show | 217 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(214): Show |
intron_variant | MODIFIER | c.-20-3455T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189788335 | ||||||
chr2:189788455
|
G | A | 11 | a0001c0001t0002g0001a0001c0001t0002g0031a0001c0001t0002g0032others(8): Show | 12 | HG01891.hp1 HG02280.hp2 HG02630.hp2 others(9): Show |
intron_variant | MODIFIER | c.-20-3335G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189788455 | ||||||
chr2:189788532
|
G | A | 16 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0115others(13): Show | 16 | HG01261.hp1 HG02109.hp1 HG02257.hp2 others(13): Show |
intron_variant | MODIFIER | c.-20-3258G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189788532 | ||||||
chr2:189788631
|
A | G | 6 | a0001c0002t0001g0009a0001c0002t0001g0010a0001c0002t0001g0012others(3): Show | 6 | HG01069.hp1 HG02055.hp1 HG03225.hp2 others(3): Show |
intron_variant | MODIFIER | c.-20-3159A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189788631 | ||||||
chr2:189788698
|
G | A | 17 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0115others(14): Show | 17 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(14): Show |
intron_variant | MODIFIER | c.-20-3092G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189788698 | ||||||
chr2:189788724
|
A | G | 1 | a0001c0001t0002g0111 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.-20-3066A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189788724 | ||||||
chr2:189788818
|
C | G | 2 | a0001c0001t0001g0025a0001c0001t0001g0026 | 2 | NA18951.hp2 NA19079.hp1 |
intron_variant | MODIFIER | c.-20-2972C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189788818 | ||||||
chr2:189788961
|
T | G | 1 | a0001c0001t0001g0206 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.-20-2829T>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189788961 | ||||||
chr2:189789023
|
G | T | 53 | a0001c0001t0002g0027a0001c0001t0002g0060a0001c0001t0002g0074others(50): Show | 53 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(50): Show |
intron_variant | MODIFIER | c.-20-2767G>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189789023 | ||||||
chr2:189789024
|
C | T | 53 | a0001c0001t0002g0027a0001c0001t0002g0060a0001c0001t0002g0074others(50): Show | 53 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(50): Show |
intron_variant | MODIFIER | c.-20-2766C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189789024 | ||||||
chr2:189789216
|
T | C | 1 | a0001c0001t0002g0060 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.-20-2574T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189789216 | ||||||
chr2:189789578
|
G | T | 1 | a0001c0001t0001g0129 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.-20-2212G>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189789578 | ||||||
chr2:189789840
|
C | T | 2 | a0001c0001t0004g0133a0001c0001t0008g0038 | 2 | HG02735.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.-20-1950C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189789840 | ||||||
chr2:189790173
|
C | G | 1 | a0001c0001t0001g0024 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.-20-1617C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189790173 | ||||||
chr2:189790215
|
A | G | 8 | a0001c0001t0002g0001a0001c0001t0002g0031a0001c0001t0002g0032others(5): Show | 9 | HG01891.hp1 HG02280.hp2 HG02630.hp2 others(6): Show |
intron_variant | MODIFIER | c.-20-1575A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189790215 | ||||||
chr2:189790496
|
G | T | 1 | a0001c0001t0004g0133 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.-20-1294G>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189790496 | ||||||
chr2:189790610
|
T | G | 1 | a0001c0001t0001g0138 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.-20-1180T>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189790610 | ||||||
chr2:189790835
|
G | C | 92 | a0001c0001t0002g0001a0001c0001t0002g0027a0001c0001t0002g0028others(89): Show | 93 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(90): Show |
intron_variant | MODIFIER | c.-20-955G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189790835 | ||||||
chr2:189790937
|
T | G | 8 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(5): Show | 8 | HG03491.hp1 HG03710.hp1 HG03942.hp2 others(5): Show |
intron_variant | MODIFIER | c.-20-853T>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189790937 | ||||||
chr2:189791004
|
A | G | 1 | a0001c0001t0001g0129 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.-20-786A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189791004 | ||||||
chr2:189791032
|
A | C | 5 | a0001c0001t0001g0003a0001c0001t0001g0006a0005c0010t0001g0007others(2): Show | 5 | HG01884.hp1 HG02109.hp2 HG03486.hp1 others(2): Show |
intron_variant | MODIFIER | c.-20-758A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189791032 | ||||||
chr2:189791074
|
CT | C | 10 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(7): Show | 10 | HG02735.hp2 HG03491.hp1 HG03710.hp1 others(7): Show |
intron_variant | MODIFIER | c.-20-705delT | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | 189791074 | |||||
chr2:189791213
|
G | C | 2 | a0001c0001t0004g0133a0001c0001t0008g0038 | 2 | HG02735.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.-20-577G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189791213 | ||||||
chr2:189791289
|
A | G | 9 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(6): Show | 9 | HG03491.hp1 HG03710.hp1 HG03942.hp2 others(6): Show |
intron_variant | MODIFIER | c.-20-501A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189791289 | ||||||
chr2:189791377
|
T | C | 2 | a0002c0005t0001g0227a0009c0006t0001g0232 | 2 | HG03139.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.-20-413T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189791377 | ||||||
chr2:189791636
|
T | G | 8 | a0001c0001t0002g0001a0001c0001t0002g0031a0001c0001t0002g0032others(5): Show | 9 | HG01891.hp1 HG02280.hp2 HG02630.hp2 others(6): Show |
intron_variant | MODIFIER | c.-20-154T>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189791636 | ||||||
chr2:189792152
|
C | T | 1 | a0001c0001t0001g0205 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.132+211C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | chr2 | 189792152 | ||||||
chr2:189792471
|
G | A | 4 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0115others(1): Show | 4 | HG03834.hp1 NA18939.hp1 NA19000.hp1 others(1): Show |
intron_variant | MODIFIER | c.132+530G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | chr2 | 189792471 | ||||||
chr2:189792480
|
T | C | 1 | a0001c0001t0001g0139 | 1 | NA18962.hp2 | intron_variant | MODIFIER | c.132+539T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | chr2 | 189792480 | ||||||
chr2:189792511
|
T | C | 5 | a0002c0005t0001g0227a0002c0005t0001g0230a0003c0004t0001g0228others(2): Show | 5 | HG02895.hp2 HG02897.hp1 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.132+570T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | chr2 | 189792511 | ||||||
chr2:189792669
|
G | A | 3 | a0001c0001t0002g0039a0001c0001t0002g0040a0001c0001t0002g0130 | 3 | HG02451.hp2 HG02615.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.132+728G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | chr2 | 189792669 | ||||||
chr2:189792688
|
A | AAT | 22 | a0001c0001t0001g0015a0001c0001t0001g0146a0001c0001t0001g0147others(19): Show | 22 | HG00099.hp1 HG00280.hp2 HG00423.hp1 others(19): Show |
intron_variant | MODIFIER | c.132+778_132+779dup others(2): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | 189792688 | |||||
chr2:189792688
|
A | AATAT | 9 | a0001c0001t0001g0142a0001c0001t0001g0143a0001c0001t0001g0144others(6): Show | 9 | HG01081.hp1 HG02135.hp1 HG02559.hp2 others(6): Show |
intron_variant | MODIFIER | c.132+776_132+779dup others(4): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | 189792688 | |||||
chr2:189792688
|
A | AATATAT | 23 | a0001c0001t0001g0135a0001c0001t0001g0141a0001c0001t0002g0029others(20): Show | 23 | HG00280.hp1 HG00558.hp2 HG00642.hp2 others(20): Show |
intron_variant | MODIFIER | c.132+774_132+779dup others(6): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | 189792688 | |||||
chr2:189792688
|
A | AATATATA others(1): Show |
7 | a0001c0001t0001g0134a0001c0001t0002g0028a0001c0001t0002g0040others(4): Show | 7 | HG01123.hp1 HG01123.hp2 HG02165.hp2 others(4): Show |
intron_variant | MODIFIER | c.132+772_132+779dup others(8): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | 189792688 | |||||
chr2:189792688
|
A | AATATATA others(3): Show |
5 | a0001c0001t0002g0039a0001c0001t0002g0046a0001c0001t0002g0047others(2): Show | 5 | HG00140.hp1 HG01258.hp1 HG02615.hp2 others(2): Show |
intron_variant | MODIFIER | c.132+770_132+779dup others(10): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | 189792688 | |||||
chr2:189792688
|
A | AATATATA others(5): Show |
3 | a0001c0001t0002g0045a0001c0003t0001g0014a0001c0003t0001g0044 | 3 | HG00099.hp2 HG02280.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.132+768_132+779dup others(12): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | 189792688 | |||||
chr2:189792688
|
A | AATATATA others(7): Show |
4 | a0001c0001t0002g0043a0001c0001t0002g0130a0001c0003t0001g0041others(1): Show | 4 | HG01081.hp2 HG02451.hp2 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.132+766_132+779dup others(14): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | 189792688 | |||||
chr2:189792688
|
A | AATATATA others(11): Show |
1 | a0001c0001t0004g0133 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.132+762_132+779dup others(18): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | 189792688 | |||||
chr2:189792688
|
A | AATATATA others(13): Show |
1 | a0001c0001t0001g0140 | 1 | NA19080.hp1 | intron_variant | MODIFIER | c.132+760_132+779dup others(20): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | 189792688 | |||||
chr2:189792688
|
A | T | 1 | a0001c0001t0001g0204 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.132+747A>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | chr2 | 189792688 | ||||||
chr2:189792688
|
AAT | A | 29 | a0001c0001t0001g0003a0001c0001t0001g0194a0001c0001t0001g0195others(26): Show | 30 | HG00558.hp1 HG00597.hp1 HG01346.hp1 others(27): Show |
intron_variant | MODIFIER | c.132+778_132+779del others(2): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | 189792688 | |||||
chr2:189792688
|
AATAT | A | 34 | a0001c0001t0001g0006a0001c0001t0002g0027a0001c0001t0002g0037others(31): Show | 34 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(31): Show |
intron_variant | MODIFIER | c.132+776_132+779del others(4): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | 189792688 | |||||
chr2:189792688
|
AATATAT | A | 24 | a0001c0001t0001g0117a0001c0001t0001g0118a0001c0001t0001g0120others(21): Show | 25 | HG01261.hp1 HG01346.hp2 HG01884.hp2 others(22): Show |
intron_variant | MODIFIER | c.132+774_132+779del others(6): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | 189792688 | |||||
chr2:189792688
|
AATATATA others(1): Show |
A | 10 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0115others(7): Show | 10 | HG02135.hp2 HG02630.hp1 HG02886.hp2 others(7): Show |
intron_variant | MODIFIER | c.132+772_132+779del others(8): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | 189792688 | |||||
chr2:189792688
|
AATATATA others(3): Show |
A | 7 | a0001c0001t0001g0016a0001c0001t0001g0021a0002c0005t0001g0227others(4): Show | 7 | HG02895.hp2 HG02897.hp1 HG03139.hp1 others(4): Show |
intron_variant | MODIFIER | c.132+770_132+779del others(10): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | 189792688 | |||||
chr2:189792688
|
AATATATA others(5): Show |
A | 9 | a0001c0001t0001g0017a0001c0001t0001g0018a0001c0001t0001g0019others(6): Show | 9 | HG03225.hp1 HG03491.hp1 HG03710.hp1 others(6): Show |
intron_variant | MODIFIER | c.132+768_132+779del others(12): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | 189792688 | |||||
chr2:189792703
|
ATATATAT others(11): Show |
A | 1 | a0001c0001t0002g0112 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.132+765_132+782del others(18): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | 189792703 | |||||
chr2:189792763
|
T | C | 1 | a0001c0001t0002g0112 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.132+822T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | chr2 | 189792763 | ||||||
chr2:189792795
|
T | A | 1 | a0001c0001t0002g0132 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.132+854T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | chr2 | 189792795 | ||||||
chr2:189792805
|
T | G | 1 | a0001c0001t0001g0023 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.132+864T>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | chr2 | 189792805 | ||||||
chr2:189792842
|
C | T | 5 | a0002c0005t0001g0227a0002c0005t0001g0230a0003c0004t0001g0228others(2): Show | 5 | HG02895.hp2 HG02897.hp1 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.132+901C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | chr2 | 189792842 | ||||||
chr2:189792874
|
C | T | 92 | a0001c0001t0002g0001a0001c0001t0002g0027a0001c0001t0002g0028others(89): Show | 93 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(90): Show |
intron_variant | MODIFIER | c.132+933C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | chr2 | 189792874 | ||||||
chr2:189793014
|
C | T | 1 | a0001c0001t0001g0135 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.132+1073C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | chr2 | 189793014 | ||||||
chr2:189793015
|
G | A | 6 | a0001c0002t0001g0009a0001c0002t0001g0010a0001c0002t0001g0012others(3): Show | 6 | HG01069.hp1 HG02055.hp1 HG03225.hp2 others(3): Show |
intron_variant | MODIFIER | c.132+1074G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | chr2 | 189793015 | ||||||
chr2:189793107
|
A | G | 155 | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0016others(152): Show | 157 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(154): Show |
intron_variant | MODIFIER | c.132+1166A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | chr2 | 189793107 | ||||||
chr2:189793116
|
A | G | 1 | a0001c0001t0002g0083 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.132+1175A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | chr2 | 189793116 | ||||||
chr2:189793140
|
T | C | 1 | a0001c0001t0001g0135 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.132+1199T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | chr2 | 189793140 | ||||||
chr2:189793242
|
C | G | 5 | a0001c0001t0001g0003a0001c0001t0001g0006a0005c0010t0001g0007others(2): Show | 5 | HG01884.hp1 HG02109.hp2 HG03486.hp1 others(2): Show |
intron_variant | MODIFIER | c.132+1301C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | chr2 | 189793242 | ||||||
chr2:189793283
|
G | A | 1 | a0001c0001t0001g0017 | 1 | NA18939.hp2 | intron_variant | MODIFIER | c.132+1342G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | chr2 | 189793283 | ||||||
chr2:189793593
|
A | G | 9 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(6): Show | 9 | HG03491.hp1 HG03710.hp1 HG03942.hp2 others(6): Show |
intron_variant | MODIFIER | c.132+1652A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | chr2 | 189793593 | ||||||
chr2:189793694
|
A | G | 1 | a0001c0001t0001g0162 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.132+1753A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | chr2 | 189793694 | ||||||
chr2:189793767
|
A | G | 1 | a0001c0001t0003g0211 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.132+1826A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | chr2 | 189793767 | ||||||
chr2:189793780
|
A | T | 17 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0115others(14): Show | 17 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(14): Show |
intron_variant | MODIFIER | c.132+1839A>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | chr2 | 189793780 | ||||||
chr2:189793896
|
A | G | 5 | a0002c0005t0001g0227a0002c0005t0001g0230a0003c0004t0001g0228others(2): Show | 5 | HG02895.hp2 HG02897.hp1 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.133-1873A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | chr2 | 189793896 | ||||||
chr2:189793989
|
C | G | 17 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0115others(14): Show | 17 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(14): Show |
intron_variant | MODIFIER | c.133-1780C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | chr2 | 189793989 | ||||||
chr2:189794648
|
G | A | 1 | a0001c0001t0003g0211 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.133-1121G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | chr2 | 189794648 | ||||||
chr2:189794896
|
A | T | 17 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0115others(14): Show | 17 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(14): Show |
intron_variant | MODIFIER | c.133-873A>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | chr2 | 189794896 | ||||||
chr2:189795052
|
C | T | 2 | a0001c0001t0001g0021a0001c0001t0001g0022 | 2 | HG03225.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.133-717C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | chr2 | 189795052 | ||||||
chr2:189795103
|
T | C | 2 | a0001c0001t0002g0084a0001c0001t0002g0085 | 2 | NA18988.hp1 NA19005.hp2 |
intron_variant | MODIFIER | c.133-666T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | chr2 | 189795103 | ||||||
chr2:189795293
|
AAC | A | 9 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(6): Show | 9 | HG03491.hp1 HG03710.hp1 HG03942.hp2 others(6): Show |
intron_variant | MODIFIER | c.133-474_133-473del others(2): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | 189795293 | |||||
chr2:189795301
|
A | G | 2 | a0001c0001t0002g0084a0001c0001t0002g0085 | 2 | NA18988.hp1 NA19005.hp2 |
intron_variant | MODIFIER | c.133-468A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | chr2 | 189795301 | ||||||
chr2:189795386
|
G | A | 1 | a0005c0010t0001g0007 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.133-383G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | chr2 | 189795386 | ||||||
chr2:189795402
|
C | T | 14 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(11): Show | 14 | HG02895.hp2 HG02897.hp1 HG03139.hp1 others(11): Show |
intron_variant | MODIFIER | c.133-367C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | chr2 | 189795402 | ||||||
chr2:189795525
|
A | G | 1 | a0001c0002t0001g0013 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.133-244A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | chr2 | 189795525 | ||||||
chr2:189795577
|
G | A | 17 | a0001c0001t0003g0002a0001c0001t0003g0211a0001c0001t0003g0212others(14): Show | 18 | HG01884.hp2 HG01891.hp2 HG02145.hp1 others(15): Show |
intron_variant | MODIFIER | c.133-192G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | chr2 | 189795577 | ||||||
chr2:189795957
|
G | A | 7 | a0001c0001t0002g0074a0001c0001t0002g0075a0001c0001t0002g0076others(4): Show | 7 | HG00733.hp2 HG01346.hp1 HG01928.hp2 others(4): Show |
splice_region_variant&intron_variant | LOW | c.315+6G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189795957 | ||||||
chr2:189796235
|
G | A | 1 | a0001c0001t0001g0163 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.315+284G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189796235 | ||||||
chr2:189796363
|
A | G | 1 | a0001c0001t0003g0211 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.315+412A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189796363 | ||||||
chr2:189796365
|
A | AT | 6 | a0001c0002t0001g0009a0001c0002t0001g0010a0001c0002t0001g0012others(3): Show | 6 | HG01069.hp1 HG02055.hp1 HG03225.hp2 others(3): Show |
intron_variant | MODIFIER | c.315+414_315+415ins others(1): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189796365 | ||||||
chr2:189796383
|
A | G | 20 | a0001c0001t0002g0028a0001c0001t0002g0029a0001c0001t0002g0030others(17): Show | 20 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(17): Show |
intron_variant | MODIFIER | c.315+432A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189796383 | ||||||
chr2:189796390
|
G | T | 147 | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0016others(144): Show | 149 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(146): Show |
intron_variant | MODIFIER | c.315+439G>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189796390 | ||||||
chr2:189796482
|
C | T | 1 | a0001c0001t0001g0193 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.315+531C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189796482 | ||||||
chr2:189796739
|
A | G | 1 | a0001c0001t0003g0211 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.315+788A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189796739 | ||||||
chr2:189796815
|
T | A | 1 | a0001c0001t0001g0146 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.315+864T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189796815 | ||||||
chr2:189796844
|
C | T | 1 | a0001c0002t0001g0012 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.315+893C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189796844 | ||||||
chr2:189796878
|
T | TG | 93 | a0001c0001t0001g0164a0001c0001t0002g0001a0001c0001t0002g0027others(90): Show | 94 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(91): Show |
intron_variant | MODIFIER | c.315+931dupG | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | 189796878 | |||||
chr2:189797072
|
C | T | 1 | a0001c0003t0001g0044 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.315+1121C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189797072 | ||||||
chr2:189797259
|
T | C | 1 | a0001c0001t0003g0211 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.315+1308T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189797259 | ||||||
chr2:189797410
|
C | T | 1 | a0001c0001t0002g0110 | 1 | NA19075.hp2 | intron_variant | MODIFIER | c.315+1459C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189797410 | ||||||
chr2:189797520
|
T | C | 1 | a0001c0001t0002g0086 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.315+1569T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189797520 | ||||||
chr2:189797923
|
A | G | 17 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0115others(14): Show | 17 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(14): Show |
intron_variant | MODIFIER | c.315+1972A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189797923 | ||||||
chr2:189798028
|
A | G | 2 | a0001c0001t0001g0006a0008c0007t0001g0005 | 2 | HG02109.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.315+2077A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189798028 | ||||||
chr2:189798317
|
G | A | 17 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0115others(14): Show | 17 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(14): Show |
intron_variant | MODIFIER | c.315+2366G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189798317 | ||||||
chr2:189798722
|
A | AT | 5 | a0002c0005t0001g0227a0002c0005t0001g0230a0003c0004t0001g0228others(2): Show | 5 | HG02895.hp2 HG02897.hp1 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.315+2782dupT | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | 189798722 | |||||
chr2:189798756
|
GA | G | 3 | a0001c0001t0002g0078a0001c0001t0002g0109a0001c0001t0002g0132 | 3 | HG01496.hp2 HG02004.hp1 NA19011.hp1 |
intron_variant | MODIFIER | c.315+2806delA | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189798756 | ||||||
chr2:189798756
|
GAT | G | 85 | a0001c0001t0002g0001a0001c0001t0002g0027a0001c0001t0002g0028others(82): Show | 86 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(83): Show |
intron_variant | MODIFIER | c.315+2806_315+2807d others(4): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189798756 | ||||||
chr2:189798757
|
A | AT | 7 | a0001c0001t0001g0136a0001c0001t0001g0145a0001c0001t0001g0161others(4): Show | 7 | HG00140.hp2 HG02155.hp2 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.315+2827dupT | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | 189798757 | |||||
chr2:189798757
|
A | ATT | 13 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(10): Show | 13 | HG02895.hp2 HG02897.hp1 HG03491.hp1 others(10): Show |
intron_variant | MODIFIER | c.315+2826_315+2827d others(4): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | 189798757 | |||||
chr2:189798757
|
AT | A | 30 | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0021others(27): Show | 30 | HG00558.hp1 HG01081.hp2 HG01261.hp1 others(27): Show |
intron_variant | MODIFIER | c.315+2827delT | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | 189798757 | |||||
chr2:189798912
|
T | G | 1 | a0001c0001t0001g0165 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.315+2961T>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189798912 | ||||||
chr2:189798979
|
T | C | 5 | a0002c0005t0001g0227a0002c0005t0001g0230a0003c0004t0001g0228others(2): Show | 5 | HG02895.hp2 HG02897.hp1 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.315+3028T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189798979 | ||||||
chr2:189799222
|
A | T | 2 | a0002c0005t0001g0227a0009c0006t0001g0232 | 2 | HG03139.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.315+3271A>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189799222 | ||||||
chr2:189799286
|
C | T | 1 | a0001c0003t0001g0044 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.315+3335C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189799286 | ||||||
chr2:189799619
|
T | C | 17 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0115others(14): Show | 17 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(14): Show |
intron_variant | MODIFIER | c.315+3668T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189799619 | ||||||
chr2:189799626
|
A | G | 93 | a0001c0001t0001g0164a0001c0001t0002g0001a0001c0001t0002g0027others(90): Show | 94 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(91): Show |
intron_variant | MODIFIER | c.315+3675A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189799626 | ||||||
chr2:189799687
|
G | A | 6 | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0021others(3): Show | 6 | HG01884.hp1 HG02109.hp2 HG03225.hp1 others(3): Show |
intron_variant | MODIFIER | c.315+3736G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189799687 | ||||||
chr2:189799751
|
G | C | 1 | a0001c0001t0001g0208 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.315+3800G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189799751 | ||||||
chr2:189799825
|
TGGTTGA | T | 17 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0115others(14): Show | 17 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(14): Show |
intron_variant | MODIFIER | c.315+3878_315+3883d others(8): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | 189799825 | |||||
chr2:189799912
|
A | C | 154 | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0016others(151): Show | 156 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(153): Show |
intron_variant | MODIFIER | c.315+3961A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189799912 | ||||||
chr2:189799929
|
A | G | 2 | a0001c0001t0001g0189a0001c0001t0001g0190 | 2 | HG00642.hp1 HG01069.hp2 |
intron_variant | MODIFIER | c.315+3978A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189799929 | ||||||
chr2:189800098
|
C | T | 8 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(5): Show | 8 | HG03491.hp1 HG03710.hp1 HG03942.hp2 others(5): Show |
intron_variant | MODIFIER | c.315+4147C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189800098 | ||||||
chr2:189800234
|
A | G | 1 | a0001c0001t0001g0024 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.315+4283A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189800234 | ||||||
chr2:189800273
|
C | T | 6 | a0001c0002t0001g0009a0001c0002t0001g0010a0001c0002t0001g0012others(3): Show | 6 | HG01069.hp1 HG02055.hp1 HG03225.hp2 others(3): Show |
intron_variant | MODIFIER | c.315+4322C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189800273 | ||||||
chr2:189800337
|
T | TA | 17 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0115others(14): Show | 17 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(14): Show |
intron_variant | MODIFIER | c.315+4387dupA | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | 189800337 | |||||
chr2:189800374
|
G | A | 12 | a0001c0001t0004g0061a0001c0001t0004g0062a0001c0001t0004g0063others(9): Show | 12 | HG02559.hp2 HG02572.hp2 HG02622.hp2 others(9): Show |
intron_variant | MODIFIER | c.315+4423G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189800374 | ||||||
chr2:189800425
|
T | C | 2 | a0001c0001t0004g0133a0001c0001t0008g0038 | 2 | HG02735.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.315+4474T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189800425 | ||||||
chr2:189800470
|
G | C | 1 | a0001c0001t0003g0213 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.315+4519G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189800470 | ||||||
chr2:189801179
|
G | A | 107 | a0001c0001t0001g0003a0001c0001t0001g0206a0001c0001t0002g0001others(104): Show | 109 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(106): Show |
intron_variant | MODIFIER | c.316-4473G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189801179 | ||||||
chr2:189801262
|
G | A | 4 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0115others(1): Show | 4 | HG03834.hp1 NA18939.hp1 NA19000.hp1 others(1): Show |
intron_variant | MODIFIER | c.316-4390G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189801262 | ||||||
chr2:189801639
|
C | T | 2 | a0001c0001t0001g0135a0001c0001t0001g0164 | 2 | HG02615.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.316-4013C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189801639 | ||||||
chr2:189801697
|
A | T | 6 | a0001c0002t0001g0009a0001c0002t0001g0010a0001c0002t0001g0012others(3): Show | 6 | HG01069.hp1 HG02055.hp1 HG03225.hp2 others(3): Show |
intron_variant | MODIFIER | c.316-3955A>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189801697 | ||||||
chr2:189801736
|
AT | A | 6 | a0001c0001t0001g0025a0001c0001t0001g0026a0001c0001t0001g0142others(3): Show | 6 | HG03139.hp1 HG03209.hp2 NA18906.hp1 others(3): Show |
intron_variant | MODIFIER | c.316-3904delT | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | 189801736 | |||||
chr2:189802289
|
C | T | 1 | a0001c0001t0002g0058 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.316-3363C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802289 | ||||||
chr2:189802343
|
A | T | 19 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0115others(16): Show | 19 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(16): Show |
intron_variant | MODIFIER | c.316-3309A>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802343 | ||||||
chr2:189802464
|
G | C | 10 | a0001c0001t0002g0060a0001c0001t0002g0074a0001c0001t0002g0075others(7): Show | 10 | HG00733.hp2 HG01346.hp1 HG01928.hp2 others(7): Show |
intron_variant | MODIFIER | c.316-3188G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802464 | ||||||
chr2:189802589
|
G | T | 1 | a0001c0001t0001g0201 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-3063G>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802589 | ||||||
chr2:189802593
|
G | A | 1 | a0001c0001t0001g0201 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-3059G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802593 | ||||||
chr2:189802601
|
T | A | 1 | a0001c0001t0001g0201 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-3051T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802601 | ||||||
chr2:189802602
|
T | G | 1 | a0001c0001t0001g0201 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-3050T>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802602 | ||||||
chr2:189802603
|
G | C | 1 | a0001c0001t0001g0201 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-3049G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802603 | ||||||
chr2:189802608
|
A | T | 1 | a0001c0001t0001g0201 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-3044A>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802608 | ||||||
chr2:189802609
|
C | A | 1 | a0001c0001t0001g0201 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-3043C>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802609 | ||||||
chr2:189802614
|
C | A | 1 | a0001c0001t0001g0201 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-3038C>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802614 | ||||||
chr2:189802624
|
C | T | 1 | a0001c0001t0001g0201 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-3028C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802624 | ||||||
chr2:189802628
|
G | T | 1 | a0001c0001t0001g0201 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-3024G>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802628 | ||||||
chr2:189802629
|
G | C | 1 | a0001c0001t0001g0201 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-3023G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802629 | ||||||
chr2:189802633
|
A | T | 1 | a0001c0001t0001g0201 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-3019A>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802633 | ||||||
chr2:189802634
|
G | T | 1 | a0001c0001t0001g0201 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-3018G>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802634 | ||||||
chr2:189802635
|
A | G | 1 | a0001c0001t0001g0201 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-3017A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802635 | ||||||
chr2:189802636
|
G | T | 1 | a0001c0001t0001g0201 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-3016G>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802636 | ||||||
chr2:189802647
|
A | C | 1 | a0001c0001t0001g0201 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-3005A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802647 | ||||||
chr2:189802651
|
G | C | 1 | a0001c0001t0001g0201 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-3001G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802651 | ||||||
chr2:189802654
|
G | C | 1 | a0001c0001t0001g0201 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-2998G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802654 | ||||||
chr2:189802662
|
T | A | 1 | a0001c0001t0001g0201 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-2990T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802662 | ||||||
chr2:189802663
|
T | C | 1 | a0001c0001t0001g0201 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-2989T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802663 | ||||||
chr2:189802664
|
G | C | 1 | a0001c0001t0001g0201 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-2988G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802664 | ||||||
chr2:189802670
|
A | C | 1 | a0001c0001t0001g0201 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-2982A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802670 | ||||||
chr2:189802677
|
A | ACACATAC others(15): Show |
1 | a0001c0001t0001g0201 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-2975_316-2974i others(24): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802677 | ||||||
chr2:189802685
|
A | C | 1 | a0001c0001t0001g0201 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-2967A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802685 | ||||||
chr2:189802686
|
C | A | 1 | a0001c0001t0001g0201 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-2966C>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802686 | ||||||
chr2:189802689
|
A | C | 1 | a0001c0001t0001g0201 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-2963A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802689 | ||||||
chr2:189802699
|
G | A | 1 | a0001c0001t0001g0201 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-2953G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802699 | ||||||
chr2:189802700
|
G | T | 1 | a0001c0001t0001g0201 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-2952G>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802700 | ||||||
chr2:189802720
|
G | T | 1 | a0001c0001t0001g0201 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-2932G>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802720 | ||||||
chr2:189802724
|
G | T | 1 | a0001c0001t0001g0201 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-2928G>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802724 | ||||||
chr2:189802730
|
G | A | 1 | a0001c0001t0001g0201 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-2922G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802730 | ||||||
chr2:189802741
|
C | G | 1 | a0001c0001t0001g0201 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-2911C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802741 | ||||||
chr2:189802742
|
A | C | 1 | a0001c0001t0001g0201 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-2910A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802742 | ||||||
chr2:189802747
|
GATGGTTC others(12): Show |
G | 1 | a0001c0001t0001g0201 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-2904_316-2886d others(21): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802747 | ||||||
chr2:189802845
|
G | A | 1 | a0001c0001t0001g0117 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.316-2807G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802845 | ||||||
chr2:189802879
|
C | G | 6 | a0001c0001t0003g0211a0002c0005t0001g0227a0002c0005t0001g0230others(3): Show | 6 | HG02895.hp2 HG02897.hp1 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.316-2773C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802879 | ||||||
chr2:189803115
|
CTG | C | 16 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(13): Show | 16 | HG01069.hp1 HG02055.hp1 HG03225.hp2 others(13): Show |
intron_variant | MODIFIER | c.316-2534_316-2533d others(4): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | 189803115 | |||||
chr2:189803205
|
T | A | 3 | a0002c0005t0001g0230a0003c0004t0001g0228a0003c0004t0001g0229 | 3 | HG02895.hp2 HG02897.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.316-2447T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189803205 | ||||||
chr2:189803275
|
C | G | 1 | a0001c0001t0002g0112 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.316-2377C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189803275 | ||||||
chr2:189803305
|
G | C | 1 | a0001c0001t0003g0213 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.316-2347G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189803305 | ||||||
chr2:189803593
|
C | T | 1 | a0001c0001t0001g0141 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.316-2059C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189803593 | ||||||
chr2:189803644
|
C | CA | 19 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0115others(16): Show | 19 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(16): Show |
intron_variant | MODIFIER | c.316-2000dupA | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | 189803644 | |||||
chr2:189803887
|
T | G | 3 | a0001c0001t0002g0001a0001c0001t0002g0032a0001c0001t0002g0033 | 4 | HG01891.hp1 HG02886.hp1 NA20129.hp2 others(1): Show |
intron_variant | MODIFIER | c.316-1765T>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189803887 | ||||||
chr2:189804143
|
G | T | 9 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(6): Show | 9 | HG03491.hp1 HG03710.hp1 HG03942.hp2 others(6): Show |
intron_variant | MODIFIER | c.316-1509G>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189804143 | ||||||
chr2:189804154
|
C | A | 158 | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0016others(155): Show | 160 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(157): Show |
intron_variant | MODIFIER | c.316-1498C>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189804154 | ||||||
chr2:189804230
|
G | C | 2 | a0001c0001t0001g0135a0001c0001t0001g0206 | 2 | HG02615.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.316-1422G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189804230 | ||||||
chr2:189804388
|
A | G | 1 | a0001c0002t0001g0013 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.316-1264A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189804388 | ||||||
chr2:189804470
|
A | G | 1 | a0001c0001t0001g0188 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.316-1182A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189804470 | ||||||
chr2:189804491
|
G | T | 12 | a0001c0001t0004g0061a0001c0001t0004g0062a0001c0001t0004g0063others(9): Show | 12 | HG02559.hp2 HG02572.hp2 HG02622.hp2 others(9): Show |
intron_variant | MODIFIER | c.316-1161G>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189804491 | ||||||
chr2:189804569
|
C | T | 16 | a0001c0001t0001g0003a0001c0001t0003g0002a0001c0001t0003g0212others(13): Show | 17 | HG01884.hp2 HG01891.hp2 HG02145.hp1 others(14): Show |
intron_variant | MODIFIER | c.316-1083C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189804569 | ||||||
chr2:189804727
|
T | C | 6 | a0001c0001t0003g0211a0002c0005t0001g0227a0002c0005t0001g0230others(3): Show | 6 | HG02895.hp2 HG02897.hp1 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.316-925T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189804727 | ||||||
chr2:189804774
|
C | T | 9 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(6): Show | 9 | HG03491.hp1 HG03710.hp1 HG03942.hp2 others(6): Show |
intron_variant | MODIFIER | c.316-878C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189804774 | ||||||
chr2:189804797
|
T | A | 1 | a0001c0001t0001g0166 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.316-855T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189804797 | ||||||
chr2:189804928
|
C | T | 8 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(5): Show | 8 | HG03491.hp1 HG03710.hp1 HG03942.hp2 others(5): Show |
intron_variant | MODIFIER | c.316-724C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189804928 | ||||||
chr2:189805016
|
T | C | 4 | a0001c0003t0001g0014a0001c0003t0001g0041a0001c0003t0001g0042others(1): Show | 4 | HG01081.hp2 HG02280.hp1 HG02559.hp1 others(1): Show |
intron_variant | MODIFIER | c.316-636T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189805016 | ||||||
chr2:189805139
|
G | A | 1 | a0001c0001t0001g0195 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.316-513G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189805139 | ||||||
chr2:189805316
|
A | G | 6 | a0001c0002t0001g0009a0001c0002t0001g0010a0001c0002t0001g0012others(3): Show | 6 | HG01069.hp1 HG02055.hp1 HG03225.hp2 others(3): Show |
intron_variant | MODIFIER | c.316-336A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189805316 | ||||||
chr2:189805355
|
A | G | 6 | a0001c0002t0001g0009a0001c0002t0001g0010a0001c0002t0001g0012others(3): Show | 6 | HG01069.hp1 HG02055.hp1 HG03225.hp2 others(3): Show |
intron_variant | MODIFIER | c.316-297A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189805355 | ||||||
chr2:189805394
|
G | T | 2 | a0001c0001t0001g0021a0001c0001t0001g0022 | 2 | HG03225.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.316-258G>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189805394 | ||||||
chr2:189805813
|
T | TA | 89 | a0001c0001t0001g0164a0001c0001t0002g0001a0001c0001t0002g0027others(86): Show | 90 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(87): Show |
intron_variant | MODIFIER | c.418+70dupA | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | 189805813 | |||||
chr2:189805918
|
C | T | 1 | a0001c0001t0003g0225 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.418+164C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189805918 | ||||||
chr2:189806004
|
A | G | 2 | a0001c0001t0002g0050a0001c0001t0002g0051 | 2 | HG01123.hp2 HG02602.hp2 |
intron_variant | MODIFIER | c.418+250A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189806004 | ||||||
chr2:189806082
|
CAT | C | 89 | a0001c0001t0001g0164a0001c0001t0002g0001a0001c0001t0002g0027others(86): Show | 90 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(87): Show |
intron_variant | MODIFIER | c.418+332_418+333del others(2): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | 189806082 | |||||
chr2:189806122
|
G | T | 1 | a0001c0001t0002g0058 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.418+368G>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189806122 | ||||||
chr2:189806148
|
T | A | 1 | a0001c0001t0001g0196 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.418+394T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189806148 | ||||||
chr2:189806190
|
A | G | 1 | a0001c0001t0008g0038 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.418+436A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189806190 | ||||||
chr2:189806328
|
G | A | 1 | a0001c0001t0002g0112 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.418+574G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189806328 | ||||||
chr2:189806428
|
C | T | 1 | a0001c0001t0001g0024 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.418+674C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189806428 | ||||||
chr2:189806529
|
C | T | 89 | a0001c0001t0001g0164a0001c0001t0002g0001a0001c0001t0002g0027others(86): Show | 90 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(87): Show |
intron_variant | MODIFIER | c.418+775C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189806529 | ||||||
chr2:189806625
|
G | T | 16 | a0001c0001t0001g0003a0001c0001t0003g0002a0001c0001t0003g0212others(13): Show | 17 | HG01884.hp2 HG01891.hp2 HG02145.hp1 others(14): Show |
intron_variant | MODIFIER | c.418+871G>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189806625 | ||||||
chr2:189806961
|
C | T | 1 | a0001c0001t0003g0225 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.418+1207C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189806961 | ||||||
chr2:189806969
|
G | A | 3 | a0001c0001t0002g0039a0001c0001t0002g0040a0001c0001t0002g0130 | 3 | HG02451.hp2 HG02615.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.418+1215G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189806969 | ||||||
chr2:189807054
|
A | G | 1 | a0005c0010t0001g0007 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.418+1300A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189807054 | ||||||
chr2:189807093
|
C | A | 1 | a0001c0001t0001g0025 | 1 | NA18951.hp2 | intron_variant | MODIFIER | c.418+1339C>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189807093 | ||||||
chr2:189807122
|
C | G | 1 | a0001c0001t0001g0164 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.418+1368C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189807122 | ||||||
chr2:189807159
|
T | G | 1 | a0001c0001t0001g0206 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.418+1405T>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189807159 | ||||||
chr2:189807520
|
C | T | 9 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(6): Show | 9 | HG03491.hp1 HG03710.hp1 HG03942.hp2 others(6): Show |
intron_variant | MODIFIER | c.418+1766C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189807520 | ||||||
chr2:189807898
|
A | C | 90 | a0001c0001t0001g0164a0001c0001t0001g0193a0001c0001t0002g0001others(87): Show | 91 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(88): Show |
intron_variant | MODIFIER | c.418+2144A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189807898 | ||||||
chr2:189807943
|
A | C | 1 | a0001c0001t0001g0015 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.418+2189A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189807943 | ||||||
chr2:189807959
|
T | A | 24 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0115others(21): Show | 24 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(21): Show |
intron_variant | MODIFIER | c.418+2205T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189807959 | ||||||
chr2:189807974
|
A | G | 1 | a0001c0001t0001g0140 | 1 | NA19080.hp1 | intron_variant | MODIFIER | c.418+2220A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189807974 | ||||||
chr2:189808103
|
G | A | 2 | a0001c0001t0002g0050a0001c0001t0002g0051 | 2 | HG01123.hp2 HG02602.hp2 |
intron_variant | MODIFIER | c.418+2349G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189808103 | ||||||
chr2:189808148
|
T | C | 9 | a0001c0001t0001g0118a0001c0001t0001g0120a0001c0001t0001g0121others(6): Show | 9 | HG01261.hp1 HG02109.hp1 HG02257.hp2 others(6): Show |
intron_variant | MODIFIER | c.418+2394T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189808148 | ||||||
chr2:189808378
|
A | G | 1 | a0001c0001t0002g0108 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.418+2624A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189808378 | ||||||
chr2:189808389
|
G | A | 1 | a0001c0001t0001g0015 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.418+2635G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189808389 | ||||||
chr2:189808945
|
A | C | 1 | a0001c0001t0002g0107 | 1 | NA18941.hp1 | intron_variant | MODIFIER | c.418+3191A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189808945 | ||||||
chr2:189809057
|
T | C | 4 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0115others(1): Show | 4 | HG03834.hp1 NA18939.hp1 NA19000.hp1 others(1): Show |
intron_variant | MODIFIER | c.418+3303T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189809057 | ||||||
chr2:189809109
|
C | T | 88 | a0001c0001t0002g0001a0001c0001t0002g0027a0001c0001t0002g0028others(85): Show | 89 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(86): Show |
intron_variant | MODIFIER | c.418+3355C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189809109 | ||||||
chr2:189809112
|
T | C | 16 | a0001c0001t0001g0003a0001c0001t0003g0002a0001c0001t0003g0212others(13): Show | 17 | HG01884.hp2 HG01891.hp2 HG02145.hp1 others(14): Show |
intron_variant | MODIFIER | c.418+3358T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189809112 | ||||||
chr2:189809208
|
A | T | 1 | a0001c0001t0001g0140 | 1 | NA19080.hp1 | intron_variant | MODIFIER | c.418+3454A>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189809208 | ||||||
chr2:189809447
|
C | CT | 17 | a0001c0001t0001g0135a0001c0001t0001g0140a0001c0001t0001g0186others(14): Show | 17 | HG00597.hp1 HG00642.hp1 HG01981.hp2 others(14): Show |
intron_variant | MODIFIER | c.418+3720dupT | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | 189809447 | |||||
chr2:189809447
|
C | CTT | 21 | a0001c0001t0001g0164a0001c0001t0001g0187a0001c0001t0002g0028others(18): Show | 21 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(18): Show |
intron_variant | MODIFIER | c.418+3719_418+3720d others(4): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | 189809447 | |||||
chr2:189809447
|
C | CTTT | 14 | a0001c0001t0001g0017a0001c0001t0001g0018a0001c0001t0001g0023others(11): Show | 14 | HG01069.hp1 HG01123.hp2 HG02257.hp1 others(11): Show |
intron_variant | MODIFIER | c.418+3718_418+3720d others(5): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | 189809447 | |||||
chr2:189809447
|
C | CTTTT | 10 | a0001c0001t0001g0016a0001c0001t0001g0019a0001c0001t0001g0020others(7): Show | 10 | HG02055.hp1 HG03139.hp1 HG03225.hp2 others(7): Show |
intron_variant | MODIFIER | c.418+3717_418+3720d others(6): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | 189809447 | |||||
chr2:189809447
|
C | CTTTTTTT others(2): Show |
6 | a0001c0001t0001g0116a0001c0001t0001g0118a0001c0001t0001g0120others(3): Show | 6 | HG01261.hp1 HG02109.hp1 HG02486.hp2 others(3): Show |
intron_variant | MODIFIER | c.418+3712_418+3720d others(11): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | 189809447 | |||||
chr2:189809447
|
C | CTTTTTTT others(3): Show |
6 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0115others(3): Show | 6 | HG02976.hp1 HG03490.hp2 HG03834.hp1 others(3): Show |
intron_variant | MODIFIER | c.418+3711_418+3720d others(12): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | 189809447 | |||||
chr2:189809447
|
C | CTTTTTTT others(4): Show |
4 | a0001c0001t0001g0123a0001c0001t0001g0124a0001c0001t0001g0128others(1): Show | 4 | HG02135.hp2 HG02257.hp2 HG02970.hp1 others(1): Show |
intron_variant | MODIFIER | c.418+3710_418+3720d others(13): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | 189809447 | |||||
chr2:189809447
|
CTTTTTT | C | 9 | a0001c0001t0002g0033a0001c0001t0002g0036a0001c0001t0002g0074others(6): Show | 9 | HG01346.hp1 HG01928.hp2 HG01981.hp1 others(6): Show |
intron_variant | MODIFIER | c.418+3715_418+3720d others(8): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | 189809447 | |||||
chr2:189809447
|
CTTTTTTT | C | 55 | a0001c0001t0002g0001a0001c0001t0002g0027a0001c0001t0002g0031others(52): Show | 56 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(53): Show |
intron_variant | MODIFIER | c.418+3714_418+3720d others(9): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | 189809447 | |||||
chr2:189809447
|
CTTTTTTT others(6): Show |
C | 1 | a0001c0001t0003g0214 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.418+3708_418+3720d others(15): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | 189809447 | |||||
chr2:189809462
|
T | C | 1 | a0001c0001t0002g0111 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.418+3708T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189809462 | ||||||
chr2:189809581
|
C | T | 3 | a0001c0001t0001g0140a0001c0001t0001g0159a0001c0001t0001g0160 | 3 | NA18967.hp2 NA19068.hp1 NA19080.hp1 |
intron_variant | MODIFIER | c.418+3827C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189809581 | ||||||
chr2:189809873
|
T | G | 9 | a0001c0001t0001g0118a0001c0001t0001g0120a0001c0001t0001g0121others(6): Show | 9 | HG01261.hp1 HG02109.hp1 HG02257.hp2 others(6): Show |
intron_variant | MODIFIER | c.418+4119T>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189809873 | ||||||
chr2:189809907
|
A | G | 1 | a0001c0001t0001g0185 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.418+4153A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189809907 | ||||||
chr2:189810705
|
A | G | 2 | a0002c0005t0001g0227a0009c0006t0001g0232 | 2 | HG03139.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.418+4951A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189810705 | ||||||
chr2:189810980
|
C | CA | 16 | a0001c0001t0001g0003a0001c0001t0003g0002a0001c0001t0003g0212others(13): Show | 17 | HG01884.hp2 HG01891.hp2 HG02145.hp1 others(14): Show |
intron_variant | MODIFIER | c.418+5239dupA | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | 189810980 | |||||
chr2:189810980
|
C | CAA | 6 | a0001c0001t0001g0006a0001c0001t0001g0021a0001c0001t0001g0022others(3): Show | 6 | HG01884.hp1 HG02109.hp2 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.418+5238_418+5239d others(4): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | 189810980 | |||||
chr2:189810980
|
CA | C | 25 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0115others(22): Show | 25 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(22): Show |
intron_variant | MODIFIER | c.418+5239delA | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | 189810980 | |||||
chr2:189811058
|
G | C | 1 | a0001c0001t0003g0212 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.418+5304G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189811058 | ||||||
chr2:189811171
|
C | A | 1 | a0001c0001t0002g0112 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.418+5417C>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189811171 | ||||||
chr2:189811173
|
C | T | 23 | a0001c0001t0002g0028a0001c0001t0002g0029a0001c0001t0002g0030others(20): Show | 23 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(20): Show |
intron_variant | MODIFIER | c.418+5419C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189811173 | ||||||
chr2:189811281
|
G | GA | 47 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0115others(44): Show | 47 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(44): Show |
intron_variant | MODIFIER | c.418+5544dupA | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | 189811281 | |||||
chr2:189811281
|
G | GAA | 5 | a0001c0001t0001g0117a0001c0001t0001g0125a0001c0001t0001g0126others(2): Show | 5 | HG02630.hp1 HG02886.hp2 HG03453.hp2 others(2): Show |
intron_variant | MODIFIER | c.418+5543_418+5544d others(4): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | 189811281 | |||||
chr2:189811281
|
GA | G | 34 | a0001c0001t0001g0006a0001c0001t0001g0016a0001c0001t0001g0017others(31): Show | 35 | HG01884.hp1 HG01884.hp2 HG01891.hp2 others(32): Show |
intron_variant | MODIFIER | c.418+5544delA | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | 189811281 | |||||
chr2:189811281
|
GAA | G | 8 | a0001c0001t0001g0003a0001c0001t0003g0226a0001c0002t0001g0009others(5): Show | 8 | HG01069.hp1 HG02055.hp1 HG03041.hp2 others(5): Show |
intron_variant | MODIFIER | c.418+5543_418+5544d others(4): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | 189811281 | |||||
chr2:189811433
|
C | G | 2 | a0001c0001t0001g0135a0001c0001t0001g0164 | 2 | HG02615.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.418+5679C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189811433 | ||||||
chr2:189811464
|
G | A | 15 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(12): Show | 15 | HG01069.hp1 HG02055.hp1 HG03225.hp2 others(12): Show |
intron_variant | MODIFIER | c.418+5710G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189811464 | ||||||
chr2:189811589
|
T | C | 23 | a0001c0001t0002g0028a0001c0001t0002g0029a0001c0001t0002g0030others(20): Show | 23 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(20): Show |
intron_variant | MODIFIER | c.418+5835T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189811589 | ||||||
chr2:189811601
|
C | CA | 15 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(12): Show | 15 | HG01069.hp1 HG02055.hp1 HG03225.hp2 others(12): Show |
intron_variant | MODIFIER | c.418+5855dupA | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | 189811601 | |||||
chr2:189811760
|
C | T | 1 | a0001c0002t0001g0010 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.418+6006C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189811760 | ||||||
chr2:189811761
|
G | A | 1 | a0005c0010t0001g0007 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.418+6007G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189811761 | ||||||
chr2:189811860
|
G | A | 1 | a0001c0001t0001g0187 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.418+6106G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189811860 | ||||||
chr2:189811988
|
A | G | 1 | a0002c0005t0001g0230 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.419-6029A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189811988 | ||||||
chr2:189812023
|
G | A | 1 | a0001c0001t0001g0127 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.419-5994G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189812023 | ||||||
chr2:189812029
|
G | A | 1 | a0001c0001t0001g0164 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.419-5988G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189812029 | ||||||
chr2:189812147
|
G | A | 88 | a0001c0001t0002g0001a0001c0001t0002g0027a0001c0001t0002g0028others(85): Show | 89 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(86): Show |
intron_variant | MODIFIER | c.419-5870G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189812147 | ||||||
chr2:189812169
|
T | C | 154 | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0016others(151): Show | 156 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(153): Show |
intron_variant | MODIFIER | c.419-5848T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189812169 | ||||||
chr2:189812216
|
G | A | 1 | a0001c0003t0001g0041 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.419-5801G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189812216 | ||||||
chr2:189812249
|
C | T | 9 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(6): Show | 9 | HG03491.hp1 HG03710.hp1 HG03942.hp2 others(6): Show |
intron_variant | MODIFIER | c.419-5768C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189812249 | ||||||
chr2:189812258
|
G | A | 9 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(6): Show | 9 | HG03491.hp1 HG03710.hp1 HG03942.hp2 others(6): Show |
intron_variant | MODIFIER | c.419-5759G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189812258 | ||||||
chr2:189812298
|
A | G | 19 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0115others(16): Show | 19 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(16): Show |
intron_variant | MODIFIER | c.419-5719A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189812298 | ||||||
chr2:189812579
|
A | T | 1 | a0001c0001t0001g0122 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.419-5438A>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189812579 | ||||||
chr2:189812612
|
C | CTTTTCAA others(7): Show |
1 | a0001c0001t0001g0127 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.419-5405_419-5404i others(16): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189812612 | ||||||
chr2:189812613
|
G | A | 1 | a0001c0001t0001g0127 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.419-5404G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189812613 | ||||||
chr2:189812674
|
A | G | 19 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0115others(16): Show | 19 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(16): Show |
intron_variant | MODIFIER | c.419-5343A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189812674 | ||||||
chr2:189812801
|
A | G | 1 | a0001c0001t0002g0079 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.419-5216A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189812801 | ||||||
chr2:189812879
|
C | T | 1 | a0001c0001t0001g0206 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.419-5138C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189812879 | ||||||
chr2:189813380
|
C | T | 1 | a0001c0001t0002g0085 | 1 | NA19005.hp2 | intron_variant | MODIFIER | c.419-4637C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189813380 | ||||||
chr2:189813456
|
G | A | 1 | a0001c0001t0001g0147 | 1 | NA18956.hp2 | intron_variant | MODIFIER | c.419-4561G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189813456 | ||||||
chr2:189813574
|
T | A | 1 | a0001c0001t0001g0169 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.419-4443T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189813574 | ||||||
chr2:189813808
|
C | G | 1 | a0001c0001t0001g0188 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.419-4209C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189813808 | ||||||
chr2:189813819
|
G | A | 65 | a0001c0001t0002g0001a0001c0001t0002g0027a0001c0001t0002g0031others(62): Show | 66 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(63): Show |
intron_variant | MODIFIER | c.419-4198G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189813819 | ||||||
chr2:189813938
|
T | C | 1 | a0001c0001t0001g0128 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.419-4079T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189813938 | ||||||
chr2:189814077
|
A | C | 88 | a0001c0001t0002g0001a0001c0001t0002g0027a0001c0001t0002g0028others(85): Show | 89 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(86): Show |
intron_variant | MODIFIER | c.419-3940A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189814077 | ||||||
chr2:189814101
|
T | C | 3 | a0002c0005t0001g0230a0003c0004t0001g0228a0003c0004t0001g0229 | 3 | HG02895.hp2 HG02897.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.419-3916T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189814101 | ||||||
chr2:189814141
|
AGCCAAAG others(9): Show |
A | 25 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0115others(22): Show | 25 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(22): Show |
intron_variant | MODIFIER | c.419-3859_419-3844d others(18): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | 189814141 | |||||
chr2:189814309
|
C | A | 25 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0115others(22): Show | 25 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(22): Show |
intron_variant | MODIFIER | c.419-3708C>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189814309 | ||||||
chr2:189814316
|
C | A | 1 | a0001c0001t0001g0023 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.419-3701C>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189814316 | ||||||
chr2:189814317
|
A | C | 26 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0115others(23): Show | 26 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(23): Show |
intron_variant | MODIFIER | c.419-3700A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189814317 | ||||||
chr2:189814515
|
C | CATAA | 148 | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0016others(145): Show | 150 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(147): Show |
intron_variant | MODIFIER | c.419-3493_419-3490d others(6): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | 189814515 | |||||
chr2:189814614
|
C | A | 1 | a0001c0001t0001g0170 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.419-3403C>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189814614 | ||||||
chr2:189814659
|
T | C | 1 | a0001c0001t0001g0171 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.419-3358T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189814659 | ||||||
chr2:189814714
|
T | C | 19 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0115others(16): Show | 19 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(16): Show |
intron_variant | MODIFIER | c.419-3303T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189814714 | ||||||
chr2:189814968
|
A | G | 126 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(123): Show | 127 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(124): Show |
intron_variant | MODIFIER | c.419-3049A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189814968 | ||||||
chr2:189814992
|
A | G | 1 | a0001c0001t0001g0135 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.419-3025A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189814992 | ||||||
chr2:189815054
|
A | G | 25 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0115others(22): Show | 25 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(22): Show |
intron_variant | MODIFIER | c.419-2963A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189815054 | ||||||
chr2:189815055
|
T | C | 231 | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0015others(228): Show | 233 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(230): Show |
intron_variant | MODIFIER | c.419-2962T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189815055 | ||||||
chr2:189815060
|
C | T | 6 | a0001c0002t0001g0009a0001c0002t0001g0010a0001c0002t0001g0012others(3): Show | 6 | HG01069.hp1 HG02055.hp1 HG03225.hp2 others(3): Show |
intron_variant | MODIFIER | c.419-2957C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189815060 | ||||||
chr2:189815076
|
G | C | 1 | a0001c0003t0001g0044 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.419-2941G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189815076 | ||||||
chr2:189815096
|
C | CA | 5 | a0001c0001t0001g0021a0001c0001t0001g0023a0001c0001t0001g0135others(2): Show | 5 | HG02280.hp1 HG02615.hp1 NA18522.hp2 others(2): Show |
intron_variant | MODIFIER | c.419-2903dupA | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | 189815096 | |||||
chr2:189815485
|
G | A | 19 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0115others(16): Show | 19 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(16): Show |
intron_variant | MODIFIER | c.419-2532G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189815485 | ||||||
chr2:189815534
|
C | G | 1 | a0001c0003t0001g0014 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.419-2483C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189815534 | ||||||
chr2:189815670
|
G | A | 1 | a0001c0001t0001g0148 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.419-2347G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189815670 | ||||||
chr2:189815711
|
C | A | 6 | a0001c0001t0001g0006a0001c0001t0001g0021a0001c0001t0001g0022others(3): Show | 6 | HG01884.hp1 HG02109.hp2 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.419-2306C>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189815711 | ||||||
chr2:189815926
|
C | A | 1 | a0001c0003t0001g0042 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.419-2091C>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189815926 | ||||||
chr2:189815946
|
C | T | 2 | a0001c0001t0001g0135a0001c0001t0001g0206 | 2 | HG02615.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.419-2071C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189815946 | ||||||
chr2:189815975
|
C | G | 31 | a0001c0001t0002g0027a0001c0001t0002g0081a0001c0001t0002g0082others(28): Show | 31 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(28): Show |
intron_variant | MODIFIER | c.419-2042C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189815975 | ||||||
chr2:189816279
|
T | C | 2 | a0001c0001t0001g0135a0001c0001t0001g0206 | 2 | HG02615.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.419-1738T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189816279 | ||||||
chr2:189816346
|
T | C | 1 | a0001c0003t0001g0044 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.419-1671T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189816346 | ||||||
chr2:189816371
|
ATTGT | A | 16 | a0001c0001t0001g0003a0001c0001t0003g0002a0001c0001t0003g0212others(13): Show | 17 | HG01884.hp2 HG01891.hp2 HG02145.hp1 others(14): Show |
intron_variant | MODIFIER | c.419-1641_419-1638d others(6): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | 189816371 | |||||
chr2:189816580
|
A | G | 25 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0115others(22): Show | 25 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(22): Show |
intron_variant | MODIFIER | c.419-1437A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189816580 | ||||||
chr2:189816621
|
GTTTCTTT others(32): Show |
G | 1 | a0001c0001t0001g0206 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.419-1381_419-1343d others(41): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | 189816621 | |||||
chr2:189816893
|
AT | A | 6 | a0001c0001t0003g0211a0002c0005t0001g0227a0002c0005t0001g0230others(3): Show | 6 | HG02895.hp2 HG02897.hp1 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.419-1123delT | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189816893 | ||||||
chr2:189816946
|
TTCTA | T | 6 | a0001c0001t0003g0211a0002c0005t0001g0227a0002c0005t0001g0230others(3): Show | 6 | HG02895.hp2 HG02897.hp1 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.419-1067_419-1064d others(6): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | 189816946 | |||||
chr2:189816974
|
A | T | 21 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0115others(18): Show | 21 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(18): Show |
intron_variant | MODIFIER | c.419-1043A>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189816974 | ||||||
chr2:189816975
|
A | T | 2 | a0001c0001t0001g0135a0001c0001t0001g0206 | 2 | HG02615.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.419-1042A>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189816975 | ||||||
chr2:189817068
|
T | C | 25 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0115others(22): Show | 25 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(22): Show |
intron_variant | MODIFIER | c.419-949T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189817068 | ||||||
chr2:189817241
|
C | T | 1 | a0001c0001t0001g0135 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.419-776C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189817241 | ||||||
chr2:189817675
|
A | G | 6 | a0001c0001t0001g0006a0001c0001t0001g0021a0001c0001t0001g0022others(3): Show | 6 | HG01884.hp1 HG02109.hp2 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.419-342A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189817675 | ||||||
chr2:189817821
|
C | T | 6 | a0001c0001t0003g0211a0002c0005t0001g0227a0002c0005t0001g0230others(3): Show | 6 | HG02895.hp2 HG02897.hp1 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.419-196C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189817821 | ||||||
chr2:189817860
|
G | A | 9 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(6): Show | 9 | HG03491.hp1 HG03710.hp1 HG03942.hp2 others(6): Show |
intron_variant | MODIFIER | c.419-157G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189817860 | ||||||
chr2:189817906
|
G | C | 88 | a0001c0001t0002g0001a0001c0001t0002g0027a0001c0001t0002g0028others(85): Show | 89 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(86): Show |
intron_variant | MODIFIER | c.419-111G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189817906 | ||||||
chr2:189817925
|
A | G | 16 | a0001c0001t0001g0003a0001c0001t0003g0002a0001c0001t0003g0212others(13): Show | 17 | HG01884.hp2 HG01891.hp2 HG02145.hp1 others(14): Show |
intron_variant | MODIFIER | c.419-92A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189817925 | ||||||
chr2:189818226
|
T | TAAAC | 25 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0115others(22): Show | 25 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(22): Show |
intron_variant | MODIFIER | c.582+49_582+52dupAC others(2): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189818226 | |||||
chr2:189818366
|
C | G | 1 | a0001c0001t0001g0184 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.582+186C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189818366 | ||||||
chr2:189818539
|
A | G | 54 | a0001c0001t0001g0164a0001c0001t0002g0027a0001c0001t0002g0060others(51): Show | 54 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(51): Show |
intron_variant | MODIFIER | c.582+359A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189818539 | ||||||
chr2:189818642
|
TAGTTTTA others(16): Show |
T | 1 | a0001c0001t0008g0038 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.582+466_582+488del others(23): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189818642 | |||||
chr2:189818694
|
A | G | 4 | a0001c0003t0001g0014a0001c0003t0001g0041a0001c0003t0001g0042others(1): Show | 4 | HG01081.hp2 HG02280.hp1 HG02559.hp1 others(1): Show |
intron_variant | MODIFIER | c.582+514A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189818694 | ||||||
chr2:189818964
|
G | T | 9 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(6): Show | 9 | HG03491.hp1 HG03710.hp1 HG03942.hp2 others(6): Show |
intron_variant | MODIFIER | c.582+784G>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189818964 | ||||||
chr2:189819062
|
T | C | 1 | a0001c0001t0008g0038 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.582+882T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189819062 | ||||||
chr2:189819333
|
G | C | 1 | a0001c0001t0002g0087 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.582+1153G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189819333 | ||||||
chr2:189819358
|
C | T | 1 | a0005c0010t0001g0007 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.582+1178C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189819358 | ||||||
chr2:189819640
|
A | C | 1 | a0001c0001t0002g0043 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.582+1460A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189819640 | ||||||
chr2:189819942
|
T | A | 23 | a0001c0001t0002g0028a0001c0001t0002g0029a0001c0001t0002g0030others(20): Show | 23 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(20): Show |
intron_variant | MODIFIER | c.582+1762T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189819942 | ||||||
chr2:189819963
|
A | G | 1 | a0001c0001t0003g0211 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.582+1783A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189819963 | ||||||
chr2:189820006
|
G | A | 19 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0115others(16): Show | 19 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(16): Show |
intron_variant | MODIFIER | c.582+1826G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189820006 | ||||||
chr2:189820056
|
A | G | 61 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(58): Show | 61 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(58): Show |
intron_variant | MODIFIER | c.582+1876A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189820056 | ||||||
chr2:189820156
|
G | C | 6 | a0001c0001t0003g0211a0002c0005t0001g0227a0002c0005t0001g0230others(3): Show | 6 | HG02895.hp2 HG02897.hp1 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.582+1976G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189820156 | ||||||
chr2:189820302
|
C | CT | 8 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(5): Show | 8 | HG03491.hp1 HG03710.hp1 HG03942.hp2 others(5): Show |
intron_variant | MODIFIER | c.582+2132dupT | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189820302 | |||||
chr2:189820409
|
C | T | 1 | a0001c0001t0001g0017 | 1 | NA18939.hp2 | intron_variant | MODIFIER | c.582+2229C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189820409 | ||||||
chr2:189820414
|
C | T | 1 | a0001c0001t0001g0023 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.582+2234C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189820414 | ||||||
chr2:189820471
|
A | T | 8 | a0001c0001t0002g0086a0001c0001t0002g0102a0001c0001t0002g0103others(5): Show | 8 | HG00544.hp1 HG02523.hp2 NA18941.hp1 others(5): Show |
intron_variant | MODIFIER | c.582+2291A>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189820471 | ||||||
chr2:189820668
|
C | G | 1 | a0001c0001t0003g0211 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.582+2488C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189820668 | ||||||
chr2:189820686
|
T | C | 1 | a0001c0003t0001g0044 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.582+2506T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189820686 | ||||||
chr2:189820834
|
T | C | 1 | a0001c0001t0002g0079 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.582+2654T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189820834 | ||||||
chr2:189821155
|
A | G | 1 | a0001c0001t0003g0221 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.582+2975A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189821155 | ||||||
chr2:189821300
|
C | CA | 3 | a0001c0001t0001g0135a0001c0001t0001g0164a0001c0001t0001g0206 | 3 | HG02615.hp1 HG02965.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.582+3125dupA | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189821300 | |||||
chr2:189821300
|
C | T | 33 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(30): Show | 33 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(30): Show |
intron_variant | MODIFIER | c.582+3120C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189821300 | ||||||
chr2:189821324
|
A | G | 1 | a0001c0001t0001g0015 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.582+3144A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189821324 | ||||||
chr2:189821398
|
C | T | 1 | a0001c0001t0002g0048 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.582+3218C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189821398 | ||||||
chr2:189821451
|
C | T | 1 | a0001c0001t0001g0003 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.582+3271C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189821451 | ||||||
chr2:189821456
|
C | CA | 10 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0020others(7): Show | 10 | HG01496.hp2 HG01981.hp2 HG02165.hp1 others(7): Show |
intron_variant | MODIFIER | c.582+3291dupA | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189821456 | |||||
chr2:189821456
|
C | CAA | 67 | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0025others(64): Show | 68 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(65): Show |
intron_variant | MODIFIER | c.582+3290_582+3291d others(4): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189821456 | |||||
chr2:189821468
|
A | AAG | 23 | a0001c0001t0002g0028a0001c0001t0002g0029a0001c0001t0002g0030others(20): Show | 23 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(20): Show |
intron_variant | MODIFIER | c.582+3289_582+3290i others(4): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189821468 | |||||
chr2:189821468
|
A | G | 6 | a0001c0001t0003g0211a0002c0005t0001g0227a0002c0005t0001g0230others(3): Show | 6 | HG02895.hp2 HG02897.hp1 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.582+3288A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189821468 | ||||||
chr2:189821471
|
A | G | 12 | a0001c0001t0003g0002a0001c0001t0003g0214a0001c0001t0003g0218others(9): Show | 13 | HG01884.hp2 HG01891.hp2 HG02145.hp1 others(10): Show |
intron_variant | MODIFIER | c.582+3291A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189821471 | ||||||
chr2:189821792
|
G | A | 1 | a0001c0001t0001g0129 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.582+3612G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189821792 | ||||||
chr2:189821842
|
A | C | 1 | a0005c0010t0001g0007 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.582+3662A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189821842 | ||||||
chr2:189821979
|
C | T | 3 | a0001c0001t0001g0148a0001c0001t0001g0156a0001c0001t0001g0157 | 3 | HG00733.hp1 HG01257.hp1 HG01943.hp1 |
intron_variant | MODIFIER | c.582+3799C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189821979 | ||||||
chr2:189822015
|
C | T | 6 | a0001c0001t0003g0211a0002c0005t0001g0227a0002c0005t0001g0230others(3): Show | 6 | HG02895.hp2 HG02897.hp1 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.582+3835C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189822015 | ||||||
chr2:189822118
|
G | A | 1 | a0001c0001t0002g0085 | 1 | NA19005.hp2 | intron_variant | MODIFIER | c.582+3938G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189822118 | ||||||
chr2:189822198
|
G | C | 2 | a0001c0001t0002g0050a0001c0001t0002g0051 | 2 | HG01123.hp2 HG02602.hp2 |
intron_variant | MODIFIER | c.582+4018G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189822198 | ||||||
chr2:189822238
|
C | T | 1 | a0001c0001t0001g0023 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.582+4058C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189822238 | ||||||
chr2:189822390
|
A | G | 1 | a0001c0001t0001g0024 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.582+4210A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189822390 | ||||||
chr2:189822403
|
A | G | 12 | a0001c0001t0004g0061a0001c0001t0004g0062a0001c0001t0004g0063others(9): Show | 12 | HG02559.hp2 HG02572.hp2 HG02622.hp2 others(9): Show |
intron_variant | MODIFIER | c.582+4223A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189822403 | ||||||
chr2:189822404
|
A | C | 12 | a0001c0001t0004g0061a0001c0001t0004g0062a0001c0001t0004g0063others(9): Show | 12 | HG02559.hp2 HG02572.hp2 HG02622.hp2 others(9): Show |
intron_variant | MODIFIER | c.582+4224A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189822404 | ||||||
chr2:189822449
|
G | GT | 23 | a0001c0001t0001g0128a0001c0001t0002g0028a0001c0001t0002g0029others(20): Show | 23 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(20): Show |
intron_variant | MODIFIER | c.582+4278dupT | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189822449 | |||||
chr2:189822613
|
A | G | 1 | a0007c0008t0001g0004 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.582+4433A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189822613 | ||||||
chr2:189822890
|
C | A | 1 | a0001c0001t0006g0173 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.582+4710C>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189822890 | ||||||
chr2:189822960
|
A | G | 6 | a0001c0002t0001g0009a0001c0002t0001g0010a0001c0002t0001g0012others(3): Show | 6 | HG01069.hp1 HG02055.hp1 HG03225.hp2 others(3): Show |
intron_variant | MODIFIER | c.582+4780A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189822960 | ||||||
chr2:189823077
|
CT | C | 16 | a0001c0001t0001g0003a0001c0001t0003g0002a0001c0001t0003g0212others(13): Show | 17 | HG01884.hp2 HG01891.hp2 HG02145.hp1 others(14): Show |
intron_variant | MODIFIER | c.582+4904delT | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189823077 | |||||
chr2:189823203
|
A | G | 16 | a0001c0001t0001g0003a0001c0001t0003g0002a0001c0001t0003g0212others(13): Show | 17 | HG01884.hp2 HG01891.hp2 HG02145.hp1 others(14): Show |
intron_variant | MODIFIER | c.582+5023A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189823203 | ||||||
chr2:189823271
|
T | A | 6 | a0001c0001t0003g0211a0002c0005t0001g0227a0002c0005t0001g0230others(3): Show | 6 | HG02895.hp2 HG02897.hp1 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.582+5091T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189823271 | ||||||
chr2:189823518
|
G | A | 157 | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0016others(154): Show | 159 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(156): Show |
intron_variant | MODIFIER | c.582+5338G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189823518 | ||||||
chr2:189824270
|
C | T | 18 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0115others(15): Show | 18 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(15): Show |
intron_variant | MODIFIER | c.582+6090C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189824270 | ||||||
chr2:189824364
|
A | G | 3 | a0001c0001t0001g0148a0001c0001t0001g0156a0001c0001t0001g0157 | 3 | HG00733.hp1 HG01257.hp1 HG01943.hp1 |
intron_variant | MODIFIER | c.582+6184A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189824364 | ||||||
chr2:189824484
|
A | C | 3 | a0001c0001t0001g0135a0001c0001t0001g0164a0001c0001t0001g0206 | 3 | HG02615.hp1 HG02965.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.582+6304A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189824484 | ||||||
chr2:189824519
|
G | C | 1 | a0001c0001t0001g0129 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.582+6339G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189824519 | ||||||
chr2:189824558
|
G | A | 88 | a0001c0001t0002g0001a0001c0001t0002g0027a0001c0001t0002g0028others(85): Show | 89 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(86): Show |
intron_variant | MODIFIER | c.582+6378G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189824558 | ||||||
chr2:189824812
|
A | G | 6 | a0001c0001t0003g0211a0002c0005t0001g0227a0002c0005t0001g0230others(3): Show | 6 | HG02895.hp2 HG02897.hp1 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.582+6632A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189824812 | ||||||
chr2:189824998
|
A | AT | 33 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(30): Show | 33 | HG01069.hp1 HG01261.hp1 HG02055.hp1 others(30): Show |
intron_variant | MODIFIER | c.582+6821dupT | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189824998 | |||||
chr2:189825045
|
G | A | 131 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(128): Show | 132 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(129): Show |
intron_variant | MODIFIER | c.582+6865G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189825045 | ||||||
chr2:189825117
|
T | C | 39 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(36): Show | 39 | HG01069.hp1 HG01261.hp1 HG02055.hp1 others(36): Show |
intron_variant | MODIFIER | c.582+6937T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189825117 | ||||||
chr2:189825440
|
AAC | A | 6 | a0001c0002t0001g0009a0001c0002t0001g0010a0001c0002t0001g0012others(3): Show | 6 | HG01069.hp1 HG02055.hp1 HG03225.hp2 others(3): Show |
intron_variant | MODIFIER | c.582+7262_582+7263d others(4): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189825440 | |||||
chr2:189825727
|
G | A | 3 | a0001c0001t0001g0135a0001c0001t0001g0164a0001c0001t0001g0206 | 3 | HG02615.hp1 HG02965.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.582+7547G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189825727 | ||||||
chr2:189825791
|
A | C | 24 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0115others(21): Show | 24 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(21): Show |
intron_variant | MODIFIER | c.582+7611A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189825791 | ||||||
chr2:189825791
|
A | G | 3 | a0001c0001t0001g0135a0001c0001t0001g0164a0001c0001t0001g0206 | 3 | HG02615.hp1 HG02965.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.582+7611A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189825791 | ||||||
chr2:189825847
|
T | TTTG | 16 | a0001c0001t0001g0003a0001c0001t0003g0002a0001c0001t0003g0212others(13): Show | 17 | HG01884.hp2 HG01891.hp2 HG02145.hp1 others(14): Show |
intron_variant | MODIFIER | c.582+7682_582+7684d others(5): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189825847 | |||||
chr2:189825961
|
A | G | 6 | a0001c0001t0003g0211a0002c0005t0001g0227a0002c0005t0001g0230others(3): Show | 6 | HG02895.hp2 HG02897.hp1 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.582+7781A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189825961 | ||||||
chr2:189825999
|
C | T | 131 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(128): Show | 132 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(129): Show |
intron_variant | MODIFIER | c.582+7819C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189825999 | ||||||
chr2:189826027
|
A | G | 6 | a0001c0001t0003g0211a0002c0005t0001g0227a0002c0005t0001g0230others(3): Show | 6 | HG02895.hp2 HG02897.hp1 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.582+7847A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189826027 | ||||||
chr2:189826043
|
T | G | 39 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(36): Show | 39 | HG01069.hp1 HG01261.hp1 HG02055.hp1 others(36): Show |
intron_variant | MODIFIER | c.582+7863T>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189826043 | ||||||
chr2:189826054
|
C | G | 2 | a0001c0001t0001g0189a0001c0001t0001g0190 | 2 | HG00642.hp1 HG01069.hp2 |
intron_variant | MODIFIER | c.582+7874C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189826054 | ||||||
chr2:189826067
|
C | A | 1 | a0001c0001t0004g0131 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.582+7887C>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189826067 | ||||||
chr2:189826189
|
G | A | 12 | a0001c0001t0004g0061a0001c0001t0004g0062a0001c0001t0004g0063others(9): Show | 12 | HG02559.hp2 HG02572.hp2 HG02622.hp2 others(9): Show |
intron_variant | MODIFIER | c.582+8009G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189826189 | ||||||
chr2:189826225
|
G | C | 162 | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0016others(159): Show | 164 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(161): Show |
intron_variant | MODIFIER | c.582+8045G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189826225 | ||||||
chr2:189826449
|
T | C | 33 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(30): Show | 33 | HG01069.hp1 HG01261.hp1 HG02055.hp1 others(30): Show |
intron_variant | MODIFIER | c.582+8269T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189826449 | ||||||
chr2:189826450
|
C | CT | 11 | a0001c0001t0001g0018a0001c0001t0001g0022a0001c0001t0003g0211others(8): Show | 11 | HG01081.hp2 HG02055.hp1 HG02895.hp2 others(8): Show |
intron_variant | MODIFIER | c.582+8284dupT | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189826450 | |||||
chr2:189826531
|
A | ATTCTT | 6 | a0001c0001t0003g0211a0002c0005t0001g0227a0002c0005t0001g0230others(3): Show | 6 | HG02895.hp2 HG02897.hp1 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.582+8353_582+8354i others(7): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189826531 | |||||
chr2:189826627
|
T | A | 1 | a0007c0008t0001g0004 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.582+8447T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189826627 | ||||||
chr2:189826862
|
C | G | 2 | a0001c0003t0001g0041a0001c0003t0001g0042 | 2 | HG01081.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.582+8682C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189826862 | ||||||
chr2:189826938
|
A | G | 34 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(31): Show | 34 | HG01069.hp1 HG01261.hp1 HG02055.hp1 others(31): Show |
intron_variant | MODIFIER | c.582+8758A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189826938 | ||||||
chr2:189827077
|
A | T | 6 | a0001c0001t0003g0211a0002c0005t0001g0227a0002c0005t0001g0230others(3): Show | 6 | HG02895.hp2 HG02897.hp1 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.582+8897A>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189827077 | ||||||
chr2:189827450
|
T | C | 1 | a0001c0001t0001g0023 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.582+9270T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189827450 | ||||||
chr2:189827501
|
A | G | 19 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0115others(16): Show | 19 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(16): Show |
intron_variant | MODIFIER | c.582+9321A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189827501 | ||||||
chr2:189827597
|
A | G | 3 | a0001c0001t0001g0135a0001c0001t0001g0164a0001c0001t0001g0206 | 3 | HG02615.hp1 HG02965.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.582+9417A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189827597 | ||||||
chr2:189827603
|
G | A | 1 | a0005c0010t0001g0007 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.582+9423G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189827603 | ||||||
chr2:189827606
|
T | A | 1 | a0001c0001t0002g0112 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.582+9426T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189827606 | ||||||
chr2:189827623
|
AT | A | 6 | a0001c0001t0001g0006a0001c0001t0001g0021a0001c0001t0001g0022others(3): Show | 6 | HG01884.hp1 HG02109.hp2 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.582+9444delT | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189827623 | ||||||
chr2:189827710
|
G | A | 1 | a0001c0001t0003g0211 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.582+9530G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189827710 | ||||||
chr2:189827748
|
G | A | 6 | a0001c0001t0003g0211a0002c0005t0001g0227a0002c0005t0001g0230others(3): Show | 6 | HG02895.hp2 HG02897.hp1 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.582+9568G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189827748 | ||||||
chr2:189827775
|
T | C | 1 | a0001c0001t0001g0208 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.582+9595T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189827775 | ||||||
chr2:189827914
|
T | TTTTG | 13 | a0001c0001t0001g0024a0001c0001t0001g0135a0001c0001t0001g0147others(10): Show | 13 | HG01069.hp1 HG02055.hp1 HG02148.hp1 others(10): Show |
intron_variant | MODIFIER | c.582+9759_582+9762d others(6): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189827914 | |||||
chr2:189827914
|
T | TTTTGTTT others(1): Show |
14 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(11): Show | 15 | HG01891.hp1 HG02280.hp2 HG02630.hp2 others(12): Show |
intron_variant | MODIFIER | c.582+9755_582+9762d others(10): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189827914 | |||||
chr2:189827938
|
G | GTTTGTTT others(5): Show |
3 | a0001c0001t0003g0211a0003c0004t0001g0228a0003c0004t0001g0229 | 3 | HG02895.hp2 HG02897.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.582+9762_582+9763i others(14): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189827938 | |||||
chr2:189827938
|
G | T | 2 | a0002c0005t0001g0227a0009c0006t0001g0232 | 2 | HG03139.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.582+9758G>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189827938 | ||||||
chr2:189827977
|
G | A | 1 | a0004c0011t0004g0070 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.582+9797G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189827977 | ||||||
chr2:189828025
|
G | A | 6 | a0001c0001t0003g0211a0002c0005t0001g0227a0002c0005t0001g0230others(3): Show | 6 | HG02895.hp2 HG02897.hp1 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.582+9845G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189828025 | ||||||
chr2:189828072
|
T | TACC | 9 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(6): Show | 9 | HG03491.hp1 HG03710.hp1 HG03942.hp2 others(6): Show |
intron_variant | MODIFIER | c.582+9898_582+9900d others(5): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189828072 | |||||
chr2:189828084
|
C | T | 1 | a0001c0001t0001g0024 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.582+9904C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189828084 | ||||||
chr2:189828085
|
G | A | 2 | a0001c0001t0004g0133a0001c0001t0008g0038 | 2 | HG02735.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.582+9905G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189828085 | ||||||
chr2:189828097
|
GT | G | 38 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(35): Show | 38 | HG01069.hp1 HG01261.hp1 HG02055.hp1 others(35): Show |
intron_variant | MODIFIER | c.582+9925delT | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189828097 | |||||
chr2:189828100
|
T | A | 6 | a0001c0001t0003g0211a0002c0005t0001g0227a0002c0005t0001g0230others(3): Show | 6 | HG02895.hp2 HG02897.hp1 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.582+9920T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189828100 | ||||||
chr2:189828114
|
C | T | 2 | a0001c0001t0001g0154a0001c0001t0001g0155 | 2 | NA18956.hp1 NA18983.hp1 |
intron_variant | MODIFIER | c.582+9934C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189828114 | ||||||
chr2:189828116
|
G | A | 1 | a0001c0001t0002g0088 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.582+9936G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189828116 | ||||||
chr2:189828486
|
A | G | 1 | a0001c0001t0003g0211 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.582+10306A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189828486 | ||||||
chr2:189828639
|
C | G | 1 | a0001c0001t0004g0072 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.582+10459C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189828639 | ||||||
chr2:189828706
|
C | T | 9 | a0001c0001t0001g0137a0001c0001t0001g0146a0001c0001t0001g0153others(6): Show | 9 | HG00423.hp1 HG02083.hp1 HG02083.hp2 others(6): Show |
intron_variant | MODIFIER | c.582+10526C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189828706 | ||||||
chr2:189828887
|
G | GA | 109 | a0001c0001t0001g0006a0001c0001t0001g0016a0001c0001t0001g0017others(106): Show | 110 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(107): Show |
intron_variant | MODIFIER | c.582+10724dupA | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189828887 | |||||
chr2:189828887
|
G | GAA | 18 | a0001c0001t0001g0003a0001c0001t0001g0023a0001c0001t0001g0024others(15): Show | 19 | HG01884.hp2 HG01891.hp2 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.582+10723_582+1072 others(6): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189828887 | |||||
chr2:189828887
|
GA | G | 5 | a0001c0001t0001g0116a0001c0001t0001g0152a0001c0001t0001g0158others(2): Show | 5 | HG03486.hp1 NA18948.hp1 NA18953.hp2 others(2): Show |
intron_variant | MODIFIER | c.582+10724delA | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189828887 | |||||
chr2:189828888
|
A | G | 1 | a0001c0001t0001g0117 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.582+10708A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189828888 | ||||||
chr2:189828981
|
T | A | 1 | a0001c0001t0001g0161 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.582+10801T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189828981 | ||||||
chr2:189828988
|
A | G | 7 | a0001c0001t0003g0211a0002c0005t0001g0227a0002c0005t0001g0230others(4): Show | 7 | HG02895.hp2 HG02897.hp1 HG03139.hp1 others(4): Show |
intron_variant | MODIFIER | c.582+10808A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189828988 | ||||||
chr2:189829301
|
C | T | 1 | a0001c0001t0002g0043 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.582+11121C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189829301 | ||||||
chr2:189829360
|
G | A | 1 | a0001c0001t0001g0164 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.582+11180G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189829360 | ||||||
chr2:189829449
|
C | T | 156 | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0016others(153): Show | 158 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(155): Show |
intron_variant | MODIFIER | c.582+11269C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189829449 | ||||||
chr2:189829456
|
G | C | 1 | a0001c0001t0001g0204 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.582+11276G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189829456 | ||||||
chr2:189829540
|
G | T | 121 | a0001c0001t0001g0006a0001c0001t0001g0021a0001c0001t0001g0022others(118): Show | 122 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(119): Show |
intron_variant | MODIFIER | c.582+11360G>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189829540 | ||||||
chr2:189829551
|
A | C | 6 | a0001c0001t0003g0211a0002c0005t0001g0227a0002c0005t0001g0230others(3): Show | 6 | HG02895.hp2 HG02897.hp1 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.582+11371A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189829551 | ||||||
chr2:189829606
|
G | A | 1 | a0001c0001t0002g0040 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.582+11426G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189829606 | ||||||
chr2:189829723
|
C | T | 112 | a0001c0001t0001g0006a0001c0001t0001g0021a0001c0001t0001g0022others(109): Show | 113 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(110): Show |
intron_variant | MODIFIER | c.582+11543C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189829723 | ||||||
chr2:189829844
|
C | G | 16 | a0001c0001t0001g0003a0001c0001t0003g0002a0001c0001t0003g0212others(13): Show | 17 | HG01884.hp2 HG01891.hp2 HG02145.hp1 others(14): Show |
intron_variant | MODIFIER | c.582+11664C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189829844 | ||||||
chr2:189829875
|
A | G | 2 | a0002c0005t0001g0227a0009c0006t0001g0232 | 2 | HG03139.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.582+11695A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189829875 | ||||||
chr2:189830324
|
C | T | 1 | a0001c0001t0002g0057 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.582+12144C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189830324 | ||||||
chr2:189830355
|
C | T | 1 | a0001c0001t0002g0108 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.582+12175C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189830355 | ||||||
chr2:189830413
|
A | G | 16 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0115others(13): Show | 16 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(13): Show |
intron_variant | MODIFIER | c.582+12233A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189830413 | ||||||
chr2:189830442
|
G | A | 1 | a0001c0001t0001g0015 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.582+12262G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189830442 | ||||||
chr2:189830737
|
T | C | 1 | a0001c0001t0001g0023 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.582+12557T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189830737 | ||||||
chr2:189830776
|
C | A | 1 | a0001c0001t0002g0087 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.582+12596C>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189830776 | ||||||
chr2:189831130
|
A | G | 1 | a0001c0001t0003g0211 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.583-12834A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189831130 | ||||||
chr2:189831543
|
T | C | 1 | a0005c0010t0001g0007 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.583-12421T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189831543 | ||||||
chr2:189831664
|
A | T | 1 | a0001c0001t0002g0099 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.583-12300A>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189831664 | ||||||
chr2:189831732
|
A | G | 4 | a0001c0001t0001g0148a0001c0001t0001g0156a0001c0001t0001g0157others(1): Show | 4 | HG00733.hp1 HG01257.hp1 HG01943.hp1 others(1): Show |
intron_variant | MODIFIER | c.583-12232A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189831732 | ||||||
chr2:189831784
|
T | A | 4 | a0001c0003t0001g0014a0001c0003t0001g0041a0001c0003t0001g0042others(1): Show | 4 | HG01081.hp2 HG02280.hp1 HG02559.hp1 others(1): Show |
intron_variant | MODIFIER | c.583-12180T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189831784 | ||||||
chr2:189831789
|
A | T | 8 | a0001c0001t0001g0021a0001c0001t0001g0205a0001c0001t0003g0211others(5): Show | 8 | HG02895.hp2 HG02897.hp1 HG03130.hp2 others(5): Show |
intron_variant | MODIFIER | c.583-12175A>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189831789 | ||||||
chr2:189831790
|
T | A | 1 | a0001c0001t0002g0130 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.583-12174T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189831790 | ||||||
chr2:189831922
|
G | T | 1 | a0001c0001t0001g0026 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.583-12042G>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189831922 | ||||||
chr2:189831962
|
C | T | 14 | a0001c0001t0001g0003a0001c0001t0003g0002a0001c0001t0003g0212others(11): Show | 15 | HG01884.hp2 HG01891.hp2 HG02145.hp1 others(12): Show |
intron_variant | MODIFIER | c.583-12002C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189831962 | ||||||
chr2:189832198
|
A | G | 51 | a0001c0001t0001g0006a0001c0001t0001g0016a0001c0001t0001g0017others(48): Show | 52 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(49): Show |
intron_variant | MODIFIER | c.583-11766A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189832198 | ||||||
chr2:189832412
|
A | G | 1 | a0001c0001t0003g0211 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.583-11552A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189832412 | ||||||
chr2:189832444
|
T | C | 1 | a0005c0010t0001g0007 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.583-11520T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189832444 | ||||||
chr2:189832457
|
C | G | 14 | a0001c0001t0001g0003a0001c0001t0003g0002a0001c0001t0003g0212others(11): Show | 15 | HG01884.hp2 HG01891.hp2 HG02145.hp1 others(12): Show |
intron_variant | MODIFIER | c.583-11507C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189832457 | ||||||
chr2:189832568
|
C | T | 25 | a0001c0001t0001g0006a0001c0001t0001g0016a0001c0001t0001g0017others(22): Show | 26 | HG01891.hp1 HG02109.hp2 HG02280.hp2 others(23): Show |
intron_variant | MODIFIER | c.583-11396C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189832568 | ||||||
chr2:189832613
|
G | C | 26 | a0001c0001t0001g0021a0001c0001t0001g0136a0001c0001t0001g0186others(23): Show | 26 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(23): Show |
intron_variant | MODIFIER | c.583-11351G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189832613 | ||||||
chr2:189832699
|
G | A | 25 | a0001c0001t0001g0006a0001c0001t0001g0016a0001c0001t0001g0017others(22): Show | 26 | HG01891.hp1 HG02109.hp2 HG02280.hp2 others(23): Show |
intron_variant | MODIFIER | c.583-11265G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189832699 | ||||||
chr2:189832925
|
C | CA | 7 | a0001c0001t0001g0205a0001c0001t0003g0211a0002c0005t0001g0227others(4): Show | 7 | HG02895.hp2 HG02897.hp1 HG03130.hp2 others(4): Show |
intron_variant | MODIFIER | c.583-11035dupA | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189832925 | |||||
chr2:189832977
|
A | G | 6 | a0001c0002t0001g0009a0001c0002t0001g0010a0001c0002t0001g0012others(3): Show | 6 | HG01069.hp1 HG02055.hp1 HG03225.hp2 others(3): Show |
intron_variant | MODIFIER | c.583-10987A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189832977 | ||||||
chr2:189833027
|
A | C | 1 | a0001c0001t0001g0145 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.583-10937A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189833027 | ||||||
chr2:189833028
|
C | T | 1 | a0001c0001t0001g0145 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.583-10936C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189833028 | ||||||
chr2:189833109
|
T | G | 1 | a0009c0006t0001g0232 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.583-10855T>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189833109 | ||||||
chr2:189833417
|
A | G | 7 | a0001c0001t0001g0205a0001c0001t0003g0211a0002c0005t0001g0227others(4): Show | 7 | HG02895.hp2 HG02897.hp1 HG03130.hp2 others(4): Show |
intron_variant | MODIFIER | c.583-10547A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189833417 | ||||||
chr2:189833420
|
A | G | 2 | a0001c0001t0001g0186a0001c0001t0002g0056 | 2 | HG00642.hp2 HG01981.hp2 |
intron_variant | MODIFIER | c.583-10544A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189833420 | ||||||
chr2:189833448
|
G | A | 7 | a0001c0001t0001g0205a0001c0001t0003g0211a0002c0005t0001g0227others(4): Show | 7 | HG02895.hp2 HG02897.hp1 HG03130.hp2 others(4): Show |
intron_variant | MODIFIER | c.583-10516G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189833448 | ||||||
chr2:189833452
|
C | T | 3 | a0001c0001t0004g0133a0001c0001t0007g0216a0001c0001t0008g0038 | 3 | HG02717.hp1 HG02735.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.583-10512C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189833452 | ||||||
chr2:189833475
|
A | G | 7 | a0001c0001t0001g0205a0001c0001t0003g0211a0002c0005t0001g0227others(4): Show | 7 | HG02895.hp2 HG02897.hp1 HG03130.hp2 others(4): Show |
intron_variant | MODIFIER | c.583-10489A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189833475 | ||||||
chr2:189833519
|
T | C | 1 | a0001c0001t0001g0206 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.583-10445T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189833519 | ||||||
chr2:189833571
|
A | ACT | 7 | a0001c0001t0001g0205a0001c0001t0003g0211a0002c0005t0001g0227others(4): Show | 7 | HG02895.hp2 HG02897.hp1 HG03130.hp2 others(4): Show |
intron_variant | MODIFIER | c.583-10392_583-1039 others(6): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189833571 | |||||
chr2:189833580
|
A | G | 1 | a0001c0001t0001g0136 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.583-10384A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189833580 | ||||||
chr2:189833602
|
A | G | 1 | a0001c0001t0001g0205 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.583-10362A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189833602 | ||||||
chr2:189833630
|
T | C | 1 | a0001c0001t0003g0212 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.583-10334T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189833630 | ||||||
chr2:189833665
|
T | G | 1 | a0001c0001t0001g0162 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.583-10299T>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189833665 | ||||||
chr2:189833792
|
A | G | 1 | a0001c0001t0001g0207 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.583-10172A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189833792 | ||||||
chr2:189833828
|
G | A | 7 | a0001c0001t0001g0205a0001c0001t0003g0211a0002c0005t0001g0227others(4): Show | 7 | HG02895.hp2 HG02897.hp1 HG03130.hp2 others(4): Show |
intron_variant | MODIFIER | c.583-10136G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189833828 | ||||||
chr2:189833873
|
A | G | 1 | a0001c0001t0003g0215 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.583-10091A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189833873 | ||||||
chr2:189834087
|
G | GAGAA | 7 | a0001c0001t0001g0205a0001c0001t0003g0211a0002c0005t0001g0227others(4): Show | 7 | HG02895.hp2 HG02897.hp1 HG03130.hp2 others(4): Show |
intron_variant | MODIFIER | c.583-9875_583-9874i others(6): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189834087 | |||||
chr2:189834089
|
G | A | 2 | a0001c0001t0001g0167a0001c0001t0001g0168 | 2 | HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.583-9875G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189834089 | ||||||
chr2:189834527
|
T | C | 7 | a0001c0001t0001g0205a0001c0001t0003g0211a0002c0005t0001g0227others(4): Show | 7 | HG02895.hp2 HG02897.hp1 HG03130.hp2 others(4): Show |
intron_variant | MODIFIER | c.583-9437T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189834527 | ||||||
chr2:189834528
|
C | T | 1 | a0001c0001t0002g0035 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.583-9436C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189834528 | ||||||
chr2:189834867
|
A | G | 7 | a0001c0001t0001g0205a0001c0001t0003g0211a0002c0005t0001g0227others(4): Show | 7 | HG02895.hp2 HG02897.hp1 HG03130.hp2 others(4): Show |
intron_variant | MODIFIER | c.583-9097A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189834867 | ||||||
chr2:189834938
|
C | T | 1 | a0001c0001t0001g0200 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.583-9026C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189834938 | ||||||
chr2:189835049
|
T | C | 1 | a0001c0001t0002g0089 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.583-8915T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189835049 | ||||||
chr2:189835232
|
T | A | 152 | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0016others(149): Show | 154 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(151): Show |
intron_variant | MODIFIER | c.583-8732T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189835232 | ||||||
chr2:189835530
|
T | G | 1 | a0001c0001t0002g0052 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.583-8434T>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189835530 | ||||||
chr2:189835768
|
G | A | 137 | a0001c0001t0001g0006a0001c0001t0001g0016a0001c0001t0001g0017others(134): Show | 138 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(135): Show |
intron_variant | MODIFIER | c.583-8196G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189835768 | ||||||
chr2:189835898
|
G | GCCTGGGT others(13): Show |
6 | a0001c0001t0001g0205a0001c0001t0003g0211a0002c0005t0001g0227others(3): Show | 6 | HG02895.hp2 HG03130.hp2 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.583-8062_583-8061i others(22): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189835898 | |||||
chr2:189835902
|
G | GGGTGACA others(11): Show |
1 | a0003c0004t0001g0229 | 1 | HG02897.hp1 | intron_variant | MODIFIER | c.583-8062_583-8061i others(20): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189835902 | ||||||
chr2:189835904
|
C | G | 1 | a0003c0004t0001g0229 | 1 | HG02897.hp1 | intron_variant | MODIFIER | c.583-8060C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189835904 | ||||||
chr2:189835906
|
C | CA | 10 | a0001c0001t0001g0135a0001c0001t0001g0137a0001c0001t0001g0148others(7): Show | 10 | HG00733.hp1 HG01257.hp1 HG01928.hp1 others(7): Show |
intron_variant | MODIFIER | c.583-8036dupA | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189835906 | |||||
chr2:189835906
|
C | CAA | 27 | a0001c0001t0001g0003a0001c0001t0001g0021a0001c0001t0001g0136others(24): Show | 27 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(24): Show |
intron_variant | MODIFIER | c.583-8037_583-8036d others(4): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189835906 | |||||
chr2:189835906
|
C | CAAA | 20 | a0001c0001t0001g0016a0001c0001t0001g0018a0001c0001t0001g0019others(17): Show | 21 | HG01891.hp1 HG02165.hp2 HG02280.hp2 others(18): Show |
intron_variant | MODIFIER | c.583-8038_583-8036d others(5): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189835906 | |||||
chr2:189835906
|
C | CAAAA | 6 | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0002g0033others(3): Show | 6 | HG02109.hp2 HG02886.hp1 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.583-8039_583-8036d others(6): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189835906 | |||||
chr2:189835906
|
CA | C | 57 | a0001c0001t0001g0023a0001c0001t0001g0025a0001c0001t0001g0142others(54): Show | 57 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(54): Show |
intron_variant | MODIFIER | c.583-8036delA | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189835906 | |||||
chr2:189835906
|
CAA | C | 10 | a0001c0001t0002g0093a0001c0001t0002g0094a0001c0001t0002g0095others(7): Show | 10 | HG01257.hp2 HG01258.hp2 HG01261.hp2 others(7): Show |
intron_variant | MODIFIER | c.583-8037_583-8036d others(4): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189835906 | |||||
chr2:189835907
|
A | T | 1 | a0003c0004t0001g0229 | 1 | HG02897.hp1 | intron_variant | MODIFIER | c.583-8057A>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189835907 | ||||||
chr2:189835908
|
A | C | 1 | a0003c0004t0001g0229 | 1 | HG02897.hp1 | intron_variant | MODIFIER | c.583-8056A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189835908 | ||||||
chr2:189835956
|
G | GA | 9 | a0001c0001t0001g0205a0001c0001t0001g0207a0001c0001t0003g0211others(6): Show | 9 | HG01255.hp1 HG02895.hp2 HG02897.hp1 others(6): Show |
intron_variant | MODIFIER | c.583-7997dupA | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189835956 | |||||
chr2:189835956
|
GA | G | 6 | a0001c0002t0001g0009a0001c0002t0001g0010a0001c0002t0001g0012others(3): Show | 6 | HG01069.hp1 HG02055.hp1 HG03225.hp2 others(3): Show |
intron_variant | MODIFIER | c.583-7997delA | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189835956 | |||||
chr2:189836106
|
A | G | 3 | a0001c0001t0001g0117a0001c0001t0001g0125a0001c0001t0001g0126 | 3 | HG02630.hp1 HG02886.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.583-7858A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189836106 | ||||||
chr2:189836222
|
C | T | 7 | a0001c0001t0001g0205a0001c0001t0003g0211a0002c0005t0001g0227others(4): Show | 7 | HG02895.hp2 HG02897.hp1 HG03130.hp2 others(4): Show |
intron_variant | MODIFIER | c.583-7742C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189836222 | ||||||
chr2:189836223
|
G | A | 1 | a0001c0001t0001g0016 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.583-7741G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189836223 | ||||||
chr2:189836382
|
T | C | 1 | a0005c0010t0001g0007 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.583-7582T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189836382 | ||||||
chr2:189836677
|
C | T | 5 | a0002c0005t0001g0227a0002c0005t0001g0230a0003c0004t0001g0228others(2): Show | 5 | HG02895.hp2 HG02897.hp1 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.583-7287C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189836677 | ||||||
chr2:189836851
|
A | G | 1 | a0001c0001t0002g0092 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.583-7113A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189836851 | ||||||
chr2:189836941
|
G | A | 7 | a0001c0001t0001g0205a0001c0001t0003g0211a0002c0005t0001g0227others(4): Show | 7 | HG02895.hp2 HG02897.hp1 HG03130.hp2 others(4): Show |
intron_variant | MODIFIER | c.583-7023G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189836941 | ||||||
chr2:189836965
|
T | G | 7 | a0001c0001t0001g0205a0001c0001t0003g0211a0002c0005t0001g0227others(4): Show | 7 | HG02895.hp2 HG02897.hp1 HG03130.hp2 others(4): Show |
intron_variant | MODIFIER | c.583-6999T>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189836965 | ||||||
chr2:189837143
|
C | T | 6 | a0001c0001t0003g0211a0002c0005t0001g0227a0002c0005t0001g0230others(3): Show | 6 | HG02895.hp2 HG02897.hp1 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.583-6821C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189837143 | ||||||
chr2:189837146
|
T | C | 51 | a0001c0001t0001g0006a0001c0001t0001g0016a0001c0001t0001g0017others(48): Show | 52 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(49): Show |
intron_variant | MODIFIER | c.583-6818T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189837146 | ||||||
chr2:189837164
|
G | GT | 54 | a0001c0001t0001g0025a0001c0001t0001g0135a0001c0001t0001g0164others(51): Show | 54 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(51): Show |
intron_variant | MODIFIER | c.583-6787dupT | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189837164 | |||||
chr2:189837298
|
T | A | 6 | a0001c0002t0001g0009a0001c0002t0001g0010a0001c0002t0001g0012others(3): Show | 6 | HG01069.hp1 HG02055.hp1 HG03225.hp2 others(3): Show |
intron_variant | MODIFIER | c.583-6666T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189837298 | ||||||
chr2:189837373
|
C | T | 1 | a0001c0001t0008g0038 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.583-6591C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189837373 | ||||||
chr2:189837434
|
T | C | 7 | a0001c0001t0001g0205a0001c0001t0003g0211a0002c0005t0001g0227others(4): Show | 7 | HG02895.hp2 HG02897.hp1 HG03130.hp2 others(4): Show |
intron_variant | MODIFIER | c.583-6530T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189837434 | ||||||
chr2:189837875
|
T | C | 1 | a0005c0010t0001g0007 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.583-6089T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189837875 | ||||||
chr2:189837969
|
A | G | 1 | a0001c0001t0001g0003 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.583-5995A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189837969 | ||||||
chr2:189838348
|
T | C | 18 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0115others(15): Show | 18 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(15): Show |
intron_variant | MODIFIER | c.583-5616T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189838348 | ||||||
chr2:189838623
|
G | A | 13 | a0001c0001t0001g0006a0001c0001t0001g0016a0001c0001t0001g0017others(10): Show | 13 | HG02109.hp2 HG03098.hp1 HG03225.hp1 others(10): Show |
intron_variant | MODIFIER | c.583-5341G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189838623 | ||||||
chr2:189838711
|
T | A | 3 | a0001c0001t0004g0133a0001c0001t0007g0216a0001c0001t0008g0038 | 3 | HG02717.hp1 HG02735.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.583-5253T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189838711 | ||||||
chr2:189838809
|
C | T | 1 | a0001c0001t0001g0145 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.583-5155C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189838809 | ||||||
chr2:189838989
|
C | CT | 53 | a0001c0001t0001g0025a0001c0001t0001g0164a0001c0001t0002g0074others(50): Show | 53 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(50): Show |
intron_variant | MODIFIER | c.583-4965dupT | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189838989 | |||||
chr2:189839037
|
A | G | 6 | a0001c0002t0001g0009a0001c0002t0001g0010a0001c0002t0001g0012others(3): Show | 6 | HG01069.hp1 HG02055.hp1 HG03225.hp2 others(3): Show |
intron_variant | MODIFIER | c.583-4927A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189839037 | ||||||
chr2:189839078
|
A | G | 2 | a0001c0001t0002g0104a0001c0001t0002g0105 | 2 | NA18953.hp1 NA19086.hp2 |
intron_variant | MODIFIER | c.583-4886A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189839078 | ||||||
chr2:189839424
|
T | A | 1 | a0001c0001t0002g0084 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.583-4540T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189839424 | ||||||
chr2:189839457
|
C | T | 23 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0115others(20): Show | 23 | HG01069.hp1 HG01261.hp1 HG02055.hp1 others(20): Show |
intron_variant | MODIFIER | c.583-4507C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189839457 | ||||||
chr2:189839694
|
A | G | 51 | a0001c0001t0001g0006a0001c0001t0001g0016a0001c0001t0001g0017others(48): Show | 52 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(49): Show |
intron_variant | MODIFIER | c.583-4270A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189839694 | ||||||
chr2:189839720
|
T | G | 1 | a0001c0001t0002g0112 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.583-4244T>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189839720 | ||||||
chr2:189839733
|
T | C | 2 | a0001c0001t0001g0135a0001c0001t0001g0206 | 2 | HG02615.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.583-4231T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189839733 | ||||||
chr2:189839802
|
A | G | 7 | a0001c0001t0001g0205a0001c0001t0003g0211a0002c0005t0001g0227others(4): Show | 7 | HG02895.hp2 HG02897.hp1 HG03130.hp2 others(4): Show |
intron_variant | MODIFIER | c.583-4162A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189839802 | ||||||
chr2:189840175
|
C | T | 2 | a0001c0001t0001g0120a0001c0001t0001g0121 | 2 | HG01261.hp1 HG02109.hp1 |
intron_variant | MODIFIER | c.583-3789C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189840175 | ||||||
chr2:189840237
|
A | G | 1 | a0001c0001t0008g0038 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.583-3727A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189840237 | ||||||
chr2:189840556
|
A | T | 1 | a0001c0001t0002g0098 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.583-3408A>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189840556 | ||||||
chr2:189840626
|
G | T | 1 | a0001c0001t0007g0216 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.583-3338G>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189840626 | ||||||
chr2:189840789
|
T | A | 1 | a0001c0001t0001g0147 | 1 | NA18956.hp2 | intron_variant | MODIFIER | c.583-3175T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189840789 | ||||||
chr2:189840805
|
T | A | 7 | a0001c0001t0001g0205a0001c0001t0003g0211a0002c0005t0001g0227others(4): Show | 7 | HG02895.hp2 HG02897.hp1 HG03130.hp2 others(4): Show |
intron_variant | MODIFIER | c.583-3159T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189840805 | ||||||
chr2:189840945
|
G | A | 1 | a0001c0001t0001g0197 | 1 | NA19079.hp2 | intron_variant | MODIFIER | c.583-3019G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189840945 | ||||||
chr2:189841070
|
CAG | C | 6 | a0001c0002t0001g0009a0001c0002t0001g0010a0001c0002t0001g0012others(3): Show | 6 | HG01069.hp1 HG02055.hp1 HG03225.hp2 others(3): Show |
intron_variant | MODIFIER | c.583-2893_583-2892d others(4): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189841070 | ||||||
chr2:189841127
|
G | T | 56 | a0001c0001t0001g0003a0001c0001t0001g0025a0001c0001t0001g0135others(53): Show | 56 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(53): Show |
intron_variant | MODIFIER | c.583-2837G>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189841127 | ||||||
chr2:189841242
|
G | C | 7 | a0001c0001t0001g0205a0001c0001t0003g0211a0002c0005t0001g0227others(4): Show | 7 | HG02895.hp2 HG02897.hp1 HG03130.hp2 others(4): Show |
intron_variant | MODIFIER | c.583-2722G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189841242 | ||||||
chr2:189841366
|
A | C | 73 | a0001c0001t0001g0006a0001c0001t0001g0016a0001c0001t0001g0017others(70): Show | 74 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(71): Show |
intron_variant | MODIFIER | c.583-2598A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189841366 | ||||||
chr2:189841479
|
C | T | 1 | a0001c0001t0001g0140 | 1 | NA19080.hp1 | intron_variant | MODIFIER | c.583-2485C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189841479 | ||||||
chr2:189841560
|
G | C | 3 | a0001c0001t0002g0053a0001c0001t0002g0054a0001c0001t0002g0059 | 3 | HG02074.hp2 HG02155.hp1 NA19077.hp2 |
intron_variant | MODIFIER | c.583-2404G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189841560 | ||||||
chr2:189841573
|
T | C | 6 | a0001c0001t0003g0211a0002c0005t0001g0227a0002c0005t0001g0230others(3): Show | 6 | HG02895.hp2 HG02897.hp1 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.583-2391T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189841573 | ||||||
chr2:189841588
|
A | G | 7 | a0001c0001t0001g0205a0001c0001t0003g0211a0002c0005t0001g0227others(4): Show | 7 | HG02895.hp2 HG02897.hp1 HG03130.hp2 others(4): Show |
intron_variant | MODIFIER | c.583-2376A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189841588 | ||||||
chr2:189841594
|
T | C | 9 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0115others(6): Show | 9 | HG02135.hp2 HG02630.hp1 HG02886.hp2 others(6): Show |
intron_variant | MODIFIER | c.583-2370T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189841594 | ||||||
chr2:189841823
|
A | AATTTTAT others(81): Show |
50 | a0001c0001t0001g0006a0001c0001t0001g0016a0001c0001t0001g0017others(47): Show | 51 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(48): Show |
intron_variant | MODIFIER | c.583-2134_583-2133i others(90): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189841823 | |||||
chr2:189841823
|
A | AATTTTAT others(81): Show |
181 | a0001c0001t0001g0003a0001c0001t0001g0015a0001c0001t0001g0023others(178): Show | 182 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(179): Show |
intron_variant | MODIFIER | c.583-2134_583-2133i others(90): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189841823 | |||||
chr2:189842125
|
A | C | 1 | a0001c0001t0001g0117 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.583-1839A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189842125 | ||||||
chr2:189842177
|
C | T | 4 | a0001c0001t0001g0166a0001c0001t0001g0191a0001c0001t0001g0192others(1): Show | 4 | HG00140.hp2 HG01255.hp2 HG02148.hp1 others(1): Show |
intron_variant | MODIFIER | c.583-1787C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189842177 | ||||||
chr2:189842245
|
A | T | 29 | a0001c0001t0001g0025a0001c0001t0001g0135a0001c0001t0001g0172others(26): Show | 29 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(26): Show |
intron_variant | MODIFIER | c.583-1719A>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189842245 | ||||||
chr2:189842308
|
T | C | 143 | a0001c0001t0001g0003a0001c0001t0001g0016a0001c0001t0001g0017others(140): Show | 145 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(142): Show |
intron_variant | MODIFIER | c.583-1656T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189842308 | ||||||
chr2:189842366
|
G | A | 1 | a0001c0001t0002g0035 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.583-1598G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189842366 | ||||||
chr2:189842441
|
T | A | 69 | a0001c0001t0001g0025a0001c0001t0001g0118a0001c0001t0001g0120others(66): Show | 69 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(66): Show |
intron_variant | MODIFIER | c.583-1523T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189842441 | ||||||
chr2:189842520
|
G | A | 1 | a0001c0001t0002g0074 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.583-1444G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189842520 | ||||||
chr2:189842523
|
C | G | 1 | a0001c0001t0001g0135 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.583-1441C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189842523 | ||||||
chr2:189842530
|
C | G | 31 | a0001c0001t0001g0016a0001c0001t0001g0018a0001c0001t0001g0019others(28): Show | 32 | HG01891.hp1 HG02280.hp2 HG02451.hp1 others(29): Show |
intron_variant | MODIFIER | c.583-1434C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189842530 | ||||||
chr2:189842678
|
A | G | 1 | a0001c0001t0008g0038 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.583-1286A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189842678 | ||||||
chr2:189842962
|
T | TTA | 35 | a0001c0001t0001g0139a0001c0001t0001g0158a0001c0001t0002g0001others(32): Show | 37 | HG00558.hp2 HG01069.hp1 HG01081.hp2 others(34): Show |
intron_variant | MODIFIER | c.583-987_583-986dup others(2): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189842962 | |||||
chr2:189842962
|
TTATATAT others(35): Show |
T | 18 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0115others(15): Show | 18 | HG02135.hp2 HG02257.hp2 HG02451.hp2 others(15): Show |
intron_variant | MODIFIER | c.583-992_583-951del others(42): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189842962 | |||||
chr2:189842979
|
C | T | 4 | a0001c0001t0001g0148a0001c0001t0001g0156a0001c0001t0001g0157others(1): Show | 4 | HG00733.hp1 HG01257.hp1 HG01943.hp1 others(1): Show |
intron_variant | MODIFIER | c.583-985C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189842979 | ||||||
chr2:189842992
|
A | G | 1 | a0001c0001t0001g0181 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.583-972A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189842992 | ||||||
chr2:189843012
|
A | T | 5 | a0001c0001t0002g0060a0001c0001t0004g0133a0001c0001t0007g0216others(2): Show | 5 | HG02717.hp1 HG02896.hp2 HG03471.hp1 others(2): Show |
intron_variant | MODIFIER | c.583-952A>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189843012 | ||||||
chr2:189843260
|
C | T | 1 | a0001c0001t0001g0138 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.583-704C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189843260 | ||||||
chr2:189843261
|
G | A | 12 | a0001c0001t0003g0002a0001c0001t0003g0212a0001c0001t0003g0214others(9): Show | 13 | HG01884.hp2 HG01891.hp2 HG02109.hp2 others(10): Show |
intron_variant | MODIFIER | c.583-703G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189843261 | ||||||
chr2:189843347
|
C | T | 56 | a0001c0001t0001g0025a0001c0001t0001g0121a0001c0001t0001g0135others(53): Show | 56 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(53): Show |
intron_variant | MODIFIER | c.583-617C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189843347 | ||||||
chr2:189843470
|
C | T | 1 | a0001c0001t0002g0111 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.583-494C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189843470 | ||||||
chr2:189843518
|
C | A | 1 | a0001c0001t0001g0135 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.583-446C>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189843518 | ||||||
chr2:189843542
|
C | T | 1 | a0001c0001t0002g0111 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.583-422C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189843542 | ||||||
chr2:189843561
|
G | A | 21 | a0001c0001t0001g0017a0001c0001t0001g0143a0001c0001t0001g0186others(18): Show | 21 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(18): Show |
intron_variant | MODIFIER | c.583-403G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189843561 | ||||||
chr2:189843645
|
A | G | 1 | a0001c0003t0001g0014 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.583-319A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189843645 | ||||||
chr2:189843769
|
A | G | 1 | a0001c0001t0001g0141 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.583-195A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189843769 | ||||||
chr2:189843914
|
T | C | 1 | a0001c0001t0002g0111 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.583-50T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189843914 | ||||||
chr2:189844217
|
C | G | 1 | a0002c0005t0001g0230 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.699+137C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189844217 | ||||||
chr2:189844256
|
C | A | 61 | a0001c0001t0001g0003a0001c0001t0001g0025a0001c0001t0001g0121others(58): Show | 61 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(58): Show |
intron_variant | MODIFIER | c.699+176C>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189844256 | ||||||
chr2:189844290
|
T | C | 13 | a0001c0001t0001g0016a0001c0001t0001g0018a0001c0001t0001g0019others(10): Show | 13 | HG02615.hp2 HG02723.hp2 HG02818.hp2 others(10): Show |
intron_variant | MODIFIER | c.699+210T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189844290 | ||||||
chr2:189844299
|
A | C | 1 | a0001c0001t0002g0035 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.699+219A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189844299 | ||||||
chr2:189844345
|
A | G | 4 | a0001c0001t0004g0133a0001c0001t0007g0216a0001c0002t0005g0008others(1): Show | 4 | HG02717.hp1 HG03471.hp1 NA19030.hp2 others(1): Show |
intron_variant | MODIFIER | c.699+265A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189844345 | ||||||
chr2:189844550
|
A | G | 8 | a0001c0001t0002g0001a0001c0001t0002g0031a0001c0001t0002g0032others(5): Show | 9 | HG01891.hp1 HG02280.hp2 HG02630.hp2 others(6): Show |
intron_variant | MODIFIER | c.699+470A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189844550 | ||||||
chr2:189844643
|
C | CA | 5 | a0001c0001t0001g0113a0001c0001t0001g0160a0001c0001t0001g0162others(2): Show | 5 | HG00642.hp2 HG01261.hp2 NA19000.hp1 others(2): Show |
intron_variant | MODIFIER | c.699+583dupA | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr2 | 189844643 | |||||
chr2:189844643
|
C | CAAAAA | 25 | a0001c0001t0001g0018a0001c0001t0001g0020a0001c0001t0001g0021others(22): Show | 26 | HG01891.hp1 HG02280.hp2 HG02615.hp2 others(23): Show |
intron_variant | MODIFIER | c.699+579_699+583dup others(5): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr2 | 189844643 | |||||
chr2:189844643
|
C | CAAAAAA | 5 | a0001c0001t0001g0016a0001c0001t0001g0019a0001c0001t0002g0035others(2): Show | 5 | HG02630.hp2 HG03209.hp2 HG03516.hp2 others(2): Show |
intron_variant | MODIFIER | c.699+578_699+583dup others(6): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr2 | 189844643 | |||||
chr2:189844643
|
CA | C | 52 | a0001c0001t0001g0003a0001c0001t0001g0121a0001c0001t0001g0172others(49): Show | 52 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(49): Show |
intron_variant | MODIFIER | c.699+583delA | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr2 | 189844643 | |||||
chr2:189844643
|
CAA | C | 12 | a0001c0001t0003g0002a0001c0001t0003g0212a0001c0001t0003g0214others(9): Show | 13 | HG01884.hp2 HG01891.hp2 HG02109.hp2 others(10): Show |
intron_variant | MODIFIER | c.699+582_699+583del others(2): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr2 | 189844643 | |||||
chr2:189844667
|
T | C | 1 | a0001c0001t0004g0131 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.699+587T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189844667 | ||||||
chr2:189844835
|
C | A | 1 | a0007c0008t0001g0004 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.699+755C>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189844835 | ||||||
chr2:189844912
|
C | T | 18 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0115others(15): Show | 18 | HG02109.hp1 HG02135.hp2 HG02257.hp2 others(15): Show |
intron_variant | MODIFIER | c.699+832C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189844912 | ||||||
chr2:189844986
|
T | A | 4 | a0001c0003t0001g0014a0001c0003t0001g0041a0001c0003t0001g0042others(1): Show | 4 | HG01081.hp2 HG02280.hp1 HG02559.hp1 others(1): Show |
intron_variant | MODIFIER | c.699+906T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189844986 | ||||||
chr2:189845138
|
G | A | 1 | a0002c0005t0001g0230 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.699+1058G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189845138 | ||||||
chr2:189845255
|
C | T | 1 | a0001c0001t0001g0208 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.699+1175C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189845255 | ||||||
chr2:189845330
|
A | C | 30 | a0001c0001t0001g0016a0001c0001t0001g0018a0001c0001t0001g0019others(27): Show | 31 | HG01891.hp1 HG02280.hp2 HG02615.hp2 others(28): Show |
intron_variant | MODIFIER | c.699+1250A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189845330 | ||||||
chr2:189845901
|
T | G | 3 | a0001c0001t0001g0122a0001c0001t0001g0123a0001c0001t0001g0124 | 3 | HG02257.hp2 HG02970.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.699+1821T>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189845901 | ||||||
chr2:189846159
|
G | A | 126 | a0001c0001t0001g0003a0001c0001t0001g0016a0001c0001t0001g0018others(123): Show | 128 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(125): Show |
intron_variant | MODIFIER | c.699+2079G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189846159 | ||||||
chr2:189846164
|
A | G | 8 | a0001c0001t0001g0146a0001c0001t0001g0159a0001c0001t0001g0160others(5): Show | 8 | HG02083.hp2 HG02523.hp1 HG03834.hp2 others(5): Show |
intron_variant | MODIFIER | c.699+2084A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189846164 | ||||||
chr2:189846187
|
A | G | 4 | a0001c0001t0004g0133a0001c0001t0007g0216a0001c0002t0005g0008others(1): Show | 4 | HG02717.hp1 HG03471.hp1 NA19030.hp2 others(1): Show |
intron_variant | MODIFIER | c.699+2107A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189846187 | ||||||
chr2:189846205
|
C | A | 2 | a0001c0001t0002g0088a0001c0001t0002g0090 | 2 | NA18964.hp2 NA19057.hp2 |
intron_variant | MODIFIER | c.699+2125C>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189846205 | ||||||
chr2:189846251
|
C | A | 4 | a0001c0002t0001g0009a0001c0002t0001g0010a0001c0002t0001g0012others(1): Show | 4 | HG01069.hp1 HG02055.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.699+2171C>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189846251 | ||||||
chr2:189846369
|
G | A | 61 | a0001c0001t0001g0003a0001c0001t0001g0025a0001c0001t0001g0121others(58): Show | 61 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(58): Show |
intron_variant | MODIFIER | c.699+2289G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189846369 | ||||||
chr2:189846508
|
C | T | 1 | a0001c0001t0002g0097 | 1 | NA18969.hp1 | intron_variant | MODIFIER | c.699+2428C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189846508 | ||||||
chr2:189846548
|
ACGTG | A | 8 | a0001c0001t0001g0146a0001c0001t0001g0159a0001c0001t0001g0160others(5): Show | 8 | HG02083.hp2 HG02523.hp1 HG03834.hp2 others(5): Show |
intron_variant | MODIFIER | c.699+2470_699+2473d others(6): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr2 | 189846548 | |||||
chr2:189846743
|
C | T | 2 | a0001c0001t0001g0189a0001c0001t0001g0190 | 2 | HG00642.hp1 HG01069.hp2 |
intron_variant | MODIFIER | c.699+2663C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189846743 | ||||||
chr2:189846851
|
C | T | 19 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0115others(16): Show | 19 | HG02109.hp1 HG02135.hp2 HG02257.hp2 others(16): Show |
intron_variant | MODIFIER | c.699+2771C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189846851 | ||||||
chr2:189846944
|
C | T | 20 | a0001c0001t0001g0016a0001c0001t0001g0018a0001c0001t0001g0019others(17): Show | 20 | HG02615.hp2 HG02723.hp2 HG02735.hp2 others(17): Show |
intron_variant | MODIFIER | c.699+2864C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189846944 | ||||||
chr2:189846954
|
C | T | 1 | a0001c0001t0002g0111 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.699+2874C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189846954 | ||||||
chr2:189847008
|
C | T | 1 | a0001c0001t0001g0147 | 1 | NA18956.hp2 | intron_variant | MODIFIER | c.699+2928C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189847008 | ||||||
chr2:189847111
|
C | T | 1 | a0001c0001t0002g0111 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.699+3031C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189847111 | ||||||
chr2:189847202
|
A | C | 3 | a0001c0001t0001g0121a0001c0001t0001g0135a0001c0001t0001g0164 | 3 | HG01261.hp1 HG02615.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.699+3122A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189847202 | ||||||
chr2:189847411
|
G | A | 35 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0115others(32): Show | 36 | HG01069.hp1 HG01884.hp2 HG01891.hp2 others(33): Show |
intron_variant | MODIFIER | c.699+3331G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189847411 | ||||||
chr2:189847465
|
AT | A | 61 | a0001c0001t0001g0003a0001c0001t0001g0025a0001c0001t0001g0121others(58): Show | 61 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(58): Show |
intron_variant | MODIFIER | c.699+3394delT | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr2 | 189847465 | |||||
chr2:189847570
|
T | A | 1 | a0001c0001t0003g0225 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.699+3490T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189847570 | ||||||
chr2:189847604
|
G | C | 8 | a0001c0001t0002g0074a0001c0001t0002g0075a0001c0001t0002g0076others(5): Show | 8 | HG00733.hp2 HG01346.hp1 HG01928.hp2 others(5): Show |
intron_variant | MODIFIER | c.699+3524G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189847604 | ||||||
chr2:189847870
|
A | C | 8 | a0001c0001t0002g0001a0001c0001t0002g0031a0001c0001t0002g0032others(5): Show | 9 | HG01891.hp1 HG02280.hp2 HG02630.hp2 others(6): Show |
intron_variant | MODIFIER | c.699+3790A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189847870 | ||||||
chr2:189847941
|
C | G | 1 | a0001c0001t0001g0015 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.699+3861C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189847941 | ||||||
chr2:189848005
|
G | A | 1 | a0001c0001t0002g0039 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.699+3925G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189848005 | ||||||
chr2:189848107
|
G | A | 1 | a0001c0001t0001g0177 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.699+4027G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189848107 | ||||||
chr2:189848172
|
T | C | 1 | a0008c0007t0001g0005 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.699+4092T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189848172 | ||||||
chr2:189848503
|
T | C | 19 | a0001c0001t0001g0016a0001c0001t0001g0018a0001c0001t0001g0019others(16): Show | 19 | HG02615.hp2 HG02723.hp2 HG02735.hp2 others(16): Show |
intron_variant | MODIFIER | c.700-4152T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189848503 | ||||||
chr2:189848759
|
T | C | 1 | a0001c0001t0008g0038 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.700-3896T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189848759 | ||||||
chr2:189849000
|
C | G | 1 | a0001c0001t0001g0022 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.700-3655C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189849000 | ||||||
chr2:189849242
|
T | C | 55 | a0001c0001t0001g0025a0001c0001t0001g0121a0001c0001t0001g0164others(52): Show | 55 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(52): Show |
intron_variant | MODIFIER | c.700-3413T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189849242 | ||||||
chr2:189849318
|
A | C | 1 | a0001c0001t0001g0022 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.700-3337A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189849318 | ||||||
chr2:189849348
|
T | A | 1 | a0001c0001t0001g0147 | 1 | NA18956.hp2 | intron_variant | MODIFIER | c.700-3307T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189849348 | ||||||
chr2:189849452
|
A | G | 1 | a0001c0001t0001g0016 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.700-3203A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189849452 | ||||||
chr2:189849512
|
A | G | 29 | a0001c0001t0001g0016a0001c0001t0001g0018a0001c0001t0001g0019others(26): Show | 30 | HG01891.hp1 HG02148.hp2 HG02280.hp2 others(27): Show |
intron_variant | MODIFIER | c.700-3143A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189849512 | ||||||
chr2:189849519
|
T | C | 62 | a0001c0001t0001g0003a0001c0001t0001g0025a0001c0001t0001g0121others(59): Show | 62 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(59): Show |
intron_variant | MODIFIER | c.700-3136T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189849519 | ||||||
chr2:189849545
|
A | G | 9 | a0001c0001t0001g0118a0001c0001t0001g0120a0001c0001t0001g0122others(6): Show | 9 | HG02109.hp1 HG02257.hp2 HG02451.hp2 others(6): Show |
intron_variant | MODIFIER | c.700-3110A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189849545 | ||||||
chr2:189849867
|
C | CT | 36 | a0001c0001t0001g0006a0001c0001t0001g0015a0001c0001t0001g0113others(33): Show | 37 | HG01891.hp1 HG02109.hp1 HG02135.hp2 others(34): Show |
intron_variant | MODIFIER | c.700-2769dupT | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr2 | 189849867 | |||||
chr2:189849867
|
C | CTT | 31 | a0001c0001t0001g0016a0001c0001t0001g0018a0001c0001t0001g0019others(28): Show | 31 | HG01069.hp1 HG02055.hp1 HG02109.hp2 others(28): Show |
intron_variant | MODIFIER | c.700-2770_700-2769d others(4): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr2 | 189849867 | |||||
chr2:189849867
|
C | CTTT | 67 | a0001c0001t0001g0003a0001c0001t0001g0025a0001c0001t0001g0121others(64): Show | 68 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(65): Show |
intron_variant | MODIFIER | c.700-2771_700-2769d others(5): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr2 | 189849867 | |||||
chr2:189849895
|
G | A | 29 | a0001c0001t0001g0016a0001c0001t0001g0018a0001c0001t0001g0019others(26): Show | 30 | HG01891.hp1 HG02280.hp2 HG02615.hp2 others(27): Show |
intron_variant | MODIFIER | c.700-2760G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189849895 | ||||||
chr2:189850383
|
A | C | 2 | a0001c0001t0001g0137a0001c0001t0001g0154 | 2 | NA18983.hp1 NA19003.hp2 |
intron_variant | MODIFIER | c.700-2272A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189850383 | ||||||
chr2:189850403
|
A | G | 1 | a0001c0001t0008g0038 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.700-2252A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189850403 | ||||||
chr2:189850750
|
C | G | 1 | a0001c0001t0001g0022 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.700-1905C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189850750 | ||||||
chr2:189850789
|
G | A | 9 | a0001c0001t0002g0074a0001c0001t0002g0075a0001c0001t0002g0076others(6): Show | 9 | HG00733.hp2 HG01346.hp1 HG01928.hp2 others(6): Show |
intron_variant | MODIFIER | c.700-1866G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189850789 | ||||||
chr2:189850874
|
C | T | 1 | a0001c0001t0002g0047 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.700-1781C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189850874 | ||||||
chr2:189850883
|
C | T | 1 | a0001c0001t0002g0111 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.700-1772C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189850883 | ||||||
chr2:189850986
|
G | C | 19 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0115others(16): Show | 19 | HG02109.hp1 HG02135.hp2 HG02257.hp2 others(16): Show |
intron_variant | MODIFIER | c.700-1669G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189850986 | ||||||
chr2:189850994
|
G | A | 1 | a0001c0002t0005g0008 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.700-1661G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189850994 | ||||||
chr2:189851403
|
A | G | 1 | a0001c0001t0001g0003 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.700-1252A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189851403 | ||||||
chr2:189851421
|
T | C | 4 | a0001c0002t0001g0009a0001c0002t0001g0010a0001c0002t0001g0012others(1): Show | 4 | HG01069.hp1 HG02055.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.700-1234T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189851421 | ||||||
chr2:189851456
|
T | G | 1 | a0001c0001t0002g0111 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.700-1199T>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189851456 | ||||||
chr2:189851517
|
C | T | 1 | a0001c0001t0001g0145 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.700-1138C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189851517 | ||||||
chr2:189851535
|
A | G | 1 | a0001c0001t0001g0180 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.700-1120A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189851535 | ||||||
chr2:189851576
|
A | G | 1 | a0001c0002t0001g0009 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.700-1079A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189851576 | ||||||
chr2:189851793
|
A | G | 1 | a0001c0001t0002g0111 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.700-862A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189851793 | ||||||
chr2:189851837
|
C | CTGGG | 56 | a0001c0001t0001g0023a0001c0001t0001g0025a0001c0001t0001g0121others(53): Show | 56 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(53): Show |
intron_variant | MODIFIER | c.700-817_700-814dup others(4): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr2 | 189851837 | |||||
chr2:189851857
|
A | G | 1 | a0001c0001t0001g0126 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.700-798A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189851857 | ||||||
chr2:189851874
|
A | G | 1 | a0001c0001t0001g0185 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.700-781A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189851874 | ||||||
chr2:189851893
|
G | A | 1 | a0001c0001t0001g0022 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.700-762G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189851893 | ||||||
chr2:189851911
|
C | G | 1 | a0001c0001t0001g0187 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.700-744C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189851911 | ||||||
chr2:189851999
|
C | G | 1 | a0001c0001t0001g0208 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.700-656C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189851999 | ||||||
chr2:189852121
|
G | T | 1 | a0001c0001t0001g0206 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.700-534G>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189852121 | ||||||
chr2:189852207
|
C | T | 2 | a0001c0001t0001g0025a0001c0001t0002g0102 | 2 | NA18951.hp1 NA18951.hp2 |
intron_variant | MODIFIER | c.700-448C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189852207 | ||||||
chr2:189852442
|
C | G | 1 | a0001c0001t0002g0112 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.700-213C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189852442 | ||||||
chr2:189852606
|
C | T | 1 | a0001c0001t0004g0061 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.700-49C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189852606 | ||||||
chr2:189852609
|
G | A | 4 | a0001c0001t0004g0133a0001c0001t0007g0216a0001c0002t0005g0008others(1): Show | 4 | HG02717.hp1 HG03471.hp1 NA19030.hp2 others(1): Show |
intron_variant | MODIFIER | c.700-46G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189852609 | ||||||
chr2:189852632
|
C | A | 4 | a0001c0002t0001g0009a0001c0002t0001g0010a0001c0002t0001g0012others(1): Show | 4 | HG01069.hp1 HG02055.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.700-23C>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189852632 | ||||||
chr2:189852891
|
A | G | 1 | a0001c0001t0002g0111 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.822+114A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 7/12 | chr2 | 189852891 | ||||||
chr2:189852902
|
T | C | 19 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0115others(16): Show | 19 | HG02109.hp1 HG02135.hp2 HG02257.hp2 others(16): Show |
intron_variant | MODIFIER | c.822+125T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 7/12 | chr2 | 189852902 | ||||||
chr2:189853103
|
A | G | 1 | a0005c0010t0001g0007 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.822+326A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 7/12 | chr2 | 189853103 | ||||||
chr2:189853141
|
T | C | 128 | a0001c0001t0001g0003a0001c0001t0001g0016a0001c0001t0001g0018others(125): Show | 130 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(127): Show |
intron_variant | MODIFIER | c.822+364T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 7/12 | chr2 | 189853141 | ||||||
chr2:189853148
|
G | A | 1 | a0001c0001t0001g0175 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.822+371G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 7/12 | chr2 | 189853148 | ||||||
chr2:189853217
|
C | T | 4 | a0001c0002t0001g0009a0001c0002t0001g0010a0001c0002t0001g0012others(1): Show | 4 | HG01069.hp1 HG02055.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.822+440C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 7/12 | chr2 | 189853217 | ||||||
chr2:189853220
|
A | T | 4 | a0001c0002t0001g0009a0001c0002t0001g0010a0001c0002t0001g0012others(1): Show | 4 | HG01069.hp1 HG02055.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.822+443A>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 7/12 | chr2 | 189853220 | ||||||
chr2:189853282
|
C | T | 1 | a0001c0001t0001g0157 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.822+505C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 7/12 | chr2 | 189853282 | ||||||
chr2:189853499
|
GCTTTT | G | 4 | a0001c0001t0001g0167a0001c0001t0001g0168a0001c0001t0002g0035others(1): Show | 4 | HG02896.hp1 HG02896.hp2 HG02897.hp2 others(1): Show |
intron_variant | MODIFIER | c.823-419_823-415del others(5): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr2 | 189853499 | |||||
chr2:189853510
|
C | A | 1 | a0001c0001t0001g0129 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.823-429C>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 7/12 | chr2 | 189853510 | ||||||
chr2:189853520
|
C | CT | 86 | a0001c0001t0001g0003a0001c0001t0001g0023a0001c0001t0001g0025others(83): Show | 88 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(85): Show |
intron_variant | MODIFIER | c.823-406dupT | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr2 | 189853520 | |||||
chr2:189853520
|
C | T | 1 | a0001c0001t0002g0111 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.823-419C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 7/12 | chr2 | 189853520 | ||||||
chr2:189853650
|
G | A | 1 | a0001c0001t0001g0003 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.823-289G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 7/12 | chr2 | 189853650 | ||||||
chr2:189853690
|
A | T | 1 | a0001c0001t0002g0111 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.823-249A>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 7/12 | chr2 | 189853690 | ||||||
chr2:189853763
|
C | T | 1 | a0001c0001t0001g0184 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.823-176C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 7/12 | chr2 | 189853763 | ||||||
chr2:189853869
|
A | C | 2 | a0001c0001t0002g0050a0001c0001t0002g0051 | 2 | HG01123.hp2 HG02602.hp2 |
intron_variant | MODIFIER | c.823-70A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 7/12 | chr2 | 189853869 | ||||||
chr2:189854119
|
A | G | 1 | a0001c0001t0002g0111 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.966+37A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 8/12 | chr2 | 189854119 | ||||||
chr2:189854190
|
T | C | 2 | a0001c0001t0003g0222a0001c0001t0003g0226 | 2 | HG03041.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.967-49T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 8/12 | chr2 | 189854190 | ||||||
chr2:189854197
|
T | G | 2 | a0001c0001t0002g0088a0001c0001t0002g0090 | 2 | NA18964.hp2 NA19057.hp2 |
intron_variant | MODIFIER | c.967-42T>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 8/12 | chr2 | 189854197 | ||||||
chr2:189855198
|
A | G | 1 | a0001c0001t0001g0003 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.1856+70A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189855198 | ||||||
chr2:189855317
|
C | G | 1 | a0001c0001t0001g0003 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.1856+189C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189855317 | ||||||
chr2:189855336
|
GT | G | 115 | a0001c0001t0001g0003a0001c0001t0001g0016a0001c0001t0001g0018others(112): Show | 117 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(114): Show |
intron_variant | MODIFIER | c.1856+218delT | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | 189855336 | |||||
chr2:189855485
|
T | C | 1 | a0001c0001t0001g0024 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.1856+357T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189855485 | ||||||
chr2:189855510
|
G | A | 1 | a0001c0001t0002g0027 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.1856+382G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189855510 | ||||||
chr2:189855702
|
G | C | 1 | a0001c0001t0004g0062 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.1856+574G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189855702 | ||||||
chr2:189855829
|
G | A | 1 | a0001c0001t0001g0184 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.1856+701G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189855829 | ||||||
chr2:189855874
|
C | T | 1 | a0001c0001t0002g0111 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1856+746C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189855874 | ||||||
chr2:189856022
|
AT | A | 10 | a0001c0001t0001g0161a0001c0001t0002g0074a0001c0001t0002g0075others(7): Show | 10 | HG00733.hp2 HG01346.hp1 HG01928.hp2 others(7): Show |
intron_variant | MODIFIER | c.1856+904delT | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | 189856022 | |||||
chr2:189856154
|
C | CT | 16 | a0001c0001t0003g0002a0001c0001t0003g0212a0001c0001t0003g0214others(13): Show | 17 | HG01069.hp1 HG01884.hp2 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.1856+1039dupT | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | 189856154 | |||||
chr2:189856167
|
T | A | 1 | a0001c0001t0002g0097 | 1 | NA18969.hp1 | intron_variant | MODIFIER | c.1856+1039T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189856167 | ||||||
chr2:189856222
|
A | G | 1 | a0001c0001t0001g0135 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.1856+1094A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189856222 | ||||||
chr2:189856699
|
T | C | 12 | a0001c0001t0003g0002a0001c0001t0003g0212a0001c0001t0003g0214others(9): Show | 13 | HG01884.hp2 HG01891.hp2 HG02109.hp2 others(10): Show |
intron_variant | MODIFIER | c.1856+1571T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189856699 | ||||||
chr2:189856951
|
T | C | 8 | a0001c0001t0001g0118a0001c0001t0001g0120a0001c0001t0001g0122others(5): Show | 8 | HG02109.hp1 HG02257.hp2 HG02451.hp2 others(5): Show |
intron_variant | MODIFIER | c.1856+1823T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189856951 | ||||||
chr2:189856970
|
A | G | 1 | a0001c0001t0002g0111 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1856+1842A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189856970 | ||||||
chr2:189857115
|
A | G | 1 | a0001c0001t0001g0015 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.1856+1987A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189857115 | ||||||
chr2:189857186
|
A | G | 1 | a0001c0001t0002g0090 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.1856+2058A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189857186 | ||||||
chr2:189857198
|
T | C | 1 | a0001c0001t0001g0117 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1856+2070T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189857198 | ||||||
chr2:189857207
|
G | A | 1 | a0001c0001t0001g0178 | 1 | HG02004.hp2 | intron_variant | MODIFIER | c.1856+2079G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189857207 | ||||||
chr2:189857344
|
C | T | 1 | a0001c0001t0002g0112 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.1856+2216C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189857344 | ||||||
chr2:189857444
|
G | A | 19 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0115others(16): Show | 19 | HG02109.hp1 HG02135.hp2 HG02257.hp2 others(16): Show |
intron_variant | MODIFIER | c.1856+2316G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189857444 | ||||||
chr2:189857531
|
G | T | 2 | a0001c0001t0001g0206a0001c0001t0002g0112 | 2 | HG02965.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.1856+2403G>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189857531 | ||||||
chr2:189857532
|
C | A | 2 | a0001c0001t0001g0206a0001c0001t0002g0112 | 2 | HG02965.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.1856+2404C>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189857532 | ||||||
chr2:189857617
|
T | C | 127 | a0001c0001t0001g0003a0001c0001t0001g0016a0001c0001t0001g0018others(124): Show | 129 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(126): Show |
intron_variant | MODIFIER | c.1856+2489T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189857617 | ||||||
chr2:189857618
|
C | T | 19 | a0001c0001t0001g0016a0001c0001t0001g0018a0001c0001t0001g0019others(16): Show | 19 | HG02615.hp2 HG02723.hp2 HG02735.hp2 others(16): Show |
intron_variant | MODIFIER | c.1856+2490C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189857618 | ||||||
chr2:189857619
|
C | T | 1 | a0001c0001t0008g0038 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.1856+2491C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189857619 | ||||||
chr2:189857928
|
G | C | 1 | a0001c0001t0001g0200 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.1856+2800G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189857928 | ||||||
chr2:189858046
|
G | T | 1 | a0001c0001t0001g0175 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.1856+2918G>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189858046 | ||||||
chr2:189858490
|
A | G | 1 | a0001c0001t0002g0035 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.1856+3362A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189858490 | ||||||
chr2:189858937
|
T | C | 1 | a0001c0001t0002g0047 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.1856+3809T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189858937 | ||||||
chr2:189859247
|
C | G | 1 | a0001c0001t0002g0039 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1856+4119C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189859247 | ||||||
chr2:189859415
|
T | C | 65 | a0001c0001t0001g0003a0001c0001t0001g0023a0001c0001t0001g0025others(62): Show | 65 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(62): Show |
intron_variant | MODIFIER | c.1856+4287T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189859415 | ||||||
chr2:189859723
|
C | T | 1 | a0001c0001t0002g0111 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1857-4020C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189859723 | ||||||
chr2:189859748
|
T | C | 4 | a0001c0002t0001g0009a0001c0002t0001g0010a0001c0002t0001g0012others(1): Show | 4 | HG01069.hp1 HG02055.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.1857-3995T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189859748 | ||||||
chr2:189859794
|
GT | G | 4 | a0001c0001t0001g0137a0001c0001t0001g0142a0001c0001t0001g0154others(1): Show | 4 | NA18956.hp1 NA18983.hp1 NA19003.hp2 others(1): Show |
intron_variant | MODIFIER | c.1857-3948delT | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189859794 | ||||||
chr2:189859797
|
T | C | 4 | a0001c0001t0001g0137a0001c0001t0001g0142a0001c0001t0001g0154others(1): Show | 4 | NA18956.hp1 NA18983.hp1 NA19003.hp2 others(1): Show |
intron_variant | MODIFIER | c.1857-3946T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189859797 | ||||||
chr2:189859804
|
T | G | 1 | a0001c0001t0002g0079 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.1857-3939T>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189859804 | ||||||
chr2:189859831
|
C | T | 62 | a0001c0001t0001g0016a0001c0001t0001g0018a0001c0001t0001g0019others(59): Show | 64 | HG01069.hp1 HG01884.hp2 HG01891.hp1 others(61): Show |
intron_variant | MODIFIER | c.1857-3912C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189859831 | ||||||
chr2:189859864
|
G | A | 4 | a0001c0002t0001g0009a0001c0002t0001g0010a0001c0002t0001g0012others(1): Show | 4 | HG01069.hp1 HG02055.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.1857-3879G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189859864 | ||||||
chr2:189859880
|
CTA | C | 17 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0115others(14): Show | 17 | HG02109.hp1 HG02135.hp2 HG02257.hp2 others(14): Show |
intron_variant | MODIFIER | c.1857-3860_1857-385 others(6): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | 189859880 | |||||
chr2:189860324
|
G | C | 12 | a0001c0001t0003g0002a0001c0001t0003g0212a0001c0001t0003g0214others(9): Show | 13 | HG01884.hp2 HG01891.hp2 HG02109.hp2 others(10): Show |
intron_variant | MODIFIER | c.1857-3419G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189860324 | ||||||
chr2:189860347
|
C | A | 1 | a0001c0001t0001g0018 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.1857-3396C>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189860347 | ||||||
chr2:189860456
|
C | T | 5 | a0001c0001t0001g0003a0001c0001t0004g0133a0001c0001t0007g0216others(2): Show | 5 | HG02717.hp1 HG03471.hp1 NA19030.hp2 others(2): Show |
intron_variant | MODIFIER | c.1857-3287C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189860456 | ||||||
chr2:189860517
|
T | C | 1 | a0001c0001t0001g0022 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.1857-3226T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189860517 | ||||||
chr2:189860519
|
A | G | 1 | a0001c0001t0001g0118 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1857-3224A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189860519 | ||||||
chr2:189860800
|
A | AT | 18 | a0001c0001t0001g0006a0001c0001t0001g0141a0001c0001t0001g0142others(15): Show | 18 | HG00544.hp2 HG01258.hp1 HG01261.hp2 others(15): Show |
intron_variant | MODIFIER | c.1857-2904dupT | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | 189860800 | |||||
chr2:189860800
|
AT | A | 26 | a0001c0001t0001g0150a0001c0001t0001g0151a0001c0001t0001g0152others(23): Show | 26 | HG00280.hp2 HG00642.hp1 HG01069.hp2 others(23): Show |
intron_variant | MODIFIER | c.1857-2904delT | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | 189860800 | |||||
chr2:189860800
|
ATT | A | 19 | a0001c0001t0001g0016a0001c0001t0001g0139a0001c0001t0001g0149others(16): Show | 19 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(16): Show |
intron_variant | MODIFIER | c.1857-2905_1857-290 others(6): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | 189860800 | |||||
chr2:189860800
|
ATTTT | A | 8 | a0001c0001t0001g0143a0001c0001t0002g0074a0001c0001t0002g0075others(5): Show | 8 | HG00733.hp2 HG01081.hp1 HG01346.hp1 others(5): Show |
intron_variant | MODIFIER | c.1857-2907_1857-290 others(8): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | 189860800 | |||||
chr2:189860800
|
ATTTTT | A | 8 | a0001c0001t0001g0201a0001c0001t0001g0205a0001c0001t0002g0082others(5): Show | 8 | HG00423.hp2 HG00544.hp1 HG01978.hp1 others(5): Show |
intron_variant | MODIFIER | c.1857-2908_1857-290 others(9): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | 189860800 | |||||
chr2:189860800
|
ATTTTTT | A | 25 | a0001c0001t0001g0023a0001c0001t0001g0025a0001c0001t0001g0121others(22): Show | 25 | HG00597.hp2 HG01258.hp2 HG01261.hp1 others(22): Show |
intron_variant | MODIFIER | c.1857-2909_1857-290 others(10): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | 189860800 | |||||
chr2:189860800
|
ATTTTTTT | A | 14 | a0001c0001t0001g0113a0001c0001t0001g0116a0001c0001t0002g0089others(11): Show | 14 | HG01069.hp1 HG01257.hp2 HG02055.hp1 others(11): Show |
intron_variant | MODIFIER | c.1857-2910_1857-290 others(11): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | 189860800 | |||||
chr2:189860800
|
ATTTTTTT others(1): Show |
A | 21 | a0001c0001t0001g0114a0001c0001t0001g0115a0001c0001t0001g0118others(18): Show | 21 | HG02135.hp2 HG02257.hp2 HG02486.hp2 others(18): Show |
intron_variant | MODIFIER | c.1857-2911_1857-290 others(12): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | 189860800 | |||||
chr2:189860800
|
ATTTTTTT others(2): Show |
A | 25 | a0001c0001t0001g0003a0001c0001t0001g0019a0001c0001t0001g0117others(22): Show | 26 | HG01884.hp2 HG01891.hp2 HG02109.hp1 others(23): Show |
intron_variant | MODIFIER | c.1857-2912_1857-290 others(13): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | 189860800 | |||||
chr2:189860800
|
ATTTTTTT others(3): Show |
A | 1 | a0001c0001t0003g0218 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.1857-2913_1857-290 others(14): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | 189860800 | |||||
chr2:189860800
|
ATTTTTTT others(4): Show |
A | 1 | a0001c0001t0002g0036 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1857-2914_1857-290 others(15): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | 189860800 | |||||
chr2:189860800
|
ATTTTTTT others(7): Show |
A | 1 | a0001c0001t0002g0035 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.1857-2917_1857-290 others(18): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | 189860800 | |||||
chr2:189860800
|
ATTTTTTT others(8): Show |
A | 3 | a0001c0001t0001g0021a0001c0001t0002g0039a0001c0001t0002g0040 | 3 | HG02615.hp2 HG03540.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.1857-2918_1857-290 others(19): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | 189860800 | |||||
chr2:189860800
|
ATTTTTTT others(9): Show |
A | 1 | a0001c0001t0001g0017 | 1 | NA18939.hp2 | intron_variant | MODIFIER | c.1857-2919_1857-290 others(20): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | 189860800 | |||||
chr2:189860800
|
ATTTTTTT others(13): Show |
A | 2 | a0001c0001t0001g0200a0005c0010t0001g0007 | 2 | HG03486.hp1 HG03942.hp1 |
intron_variant | MODIFIER | c.1857-2923_1857-290 others(24): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | 189860800 | |||||
chr2:189860800
|
ATTTTTTT others(15): Show |
A | 1 | a0001c0003t0001g0041 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.1857-2925_1857-290 others(26): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | 189860800 | |||||
chr2:189860800
|
ATTTTTTT others(16): Show |
A | 3 | a0001c0003t0001g0014a0001c0003t0001g0042a0001c0003t0001g0044 | 3 | HG02280.hp1 HG02559.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.1857-2926_1857-290 others(27): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | 189860800 | |||||
chr2:189860837
|
T | G | 9 | a0001c0001t0001g0003a0001c0001t0001g0016a0001c0001t0001g0019others(6): Show | 9 | HG02615.hp2 HG02622.hp1 HG02735.hp2 others(6): Show |
intron_variant | MODIFIER | c.1857-2906T>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189860837 | ||||||
chr2:189860838
|
T | A | 10 | a0001c0001t0001g0003a0001c0001t0001g0015a0001c0001t0001g0016others(7): Show | 10 | HG02615.hp2 HG02622.hp1 HG02735.hp1 others(7): Show |
intron_variant | MODIFIER | c.1857-2905T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189860838 | ||||||
chr2:189860839
|
T | G | 10 | a0001c0001t0001g0003a0001c0001t0001g0015a0001c0001t0001g0016others(7): Show | 10 | HG02615.hp2 HG02622.hp1 HG02735.hp1 others(7): Show |
intron_variant | MODIFIER | c.1857-2904T>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189860839 | ||||||
chr2:189860839
|
T | TTTTTTTT others(3): Show |
4 | a0001c0001t0002g0032a0001c0001t0002g0033a0001c0001t0002g0034others(1): Show | 4 | HG01891.hp1 HG02280.hp2 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.1857-2904_1857-290 others(14): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189860839 | ||||||
chr2:189860839
|
T | TTTTTTTT others(6): Show |
1 | a0002c0005t0001g0227 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.1857-2904_1857-290 others(17): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189860839 | ||||||
chr2:189860839
|
T | TTTTTTTT others(4): Show |
1 | a0001c0001t0002g0001 | 2 | NA20129.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.1857-2904_1857-290 others(15): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189860839 | ||||||
chr2:189860839
|
T | TTTTTTTT others(9): Show |
1 | a0001c0001t0001g0169 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.1857-2904_1857-290 others(20): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189860839 | ||||||
chr2:189860839
|
T | TTTTTTTT others(10): Show |
1 | a0001c0001t0001g0018 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.1857-2904_1857-290 others(21): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189860839 | ||||||
chr2:189860839
|
T | TTTTTTTT others(11): Show |
3 | a0001c0001t0001g0024a0001c0001t0001g0128a0009c0006t0001g0232 | 3 | HG03139.hp1 HG03831.hp1 NA18983.hp2 |
intron_variant | MODIFIER | c.1857-2904_1857-290 others(22): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189860839 | ||||||
chr2:189860839
|
T | TTTTTTTT others(19): Show |
1 | a0001c0001t0001g0026 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.1857-2904_1857-290 others(30): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189860839 | ||||||
chr2:189860966
|
T | C | 26 | a0001c0001t0001g0016a0001c0001t0001g0018a0001c0001t0001g0019others(23): Show | 27 | HG01891.hp1 HG02280.hp2 HG02615.hp2 others(24): Show |
intron_variant | MODIFIER | c.1857-2777T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189860966 | ||||||
chr2:189861120
|
A | G | 18 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0115others(15): Show | 18 | HG02109.hp1 HG02135.hp2 HG02257.hp2 others(15): Show |
intron_variant | MODIFIER | c.1857-2623A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189861120 | ||||||
chr2:189861283
|
C | A | 4 | a0001c0001t0004g0133a0001c0001t0007g0216a0001c0002t0005g0008others(1): Show | 4 | HG02717.hp1 HG03471.hp1 NA19030.hp2 others(1): Show |
intron_variant | MODIFIER | c.1857-2460C>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189861283 | ||||||
chr2:189861400
|
CT | C | 118 | a0001c0001t0001g0003a0001c0001t0001g0016a0001c0001t0001g0018others(115): Show | 119 | HG00423.hp2 HG00544.hp1 HG00558.hp1 others(116): Show |
intron_variant | MODIFIER | c.1857-2328delT | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | 189861400 | |||||
chr2:189861400
|
CTT | C | 13 | a0001c0001t0002g0078a0001c0001t0003g0002a0001c0001t0003g0212others(10): Show | 14 | HG01884.hp2 HG01891.hp2 HG02004.hp1 others(11): Show |
intron_variant | MODIFIER | c.1857-2329_1857-232 others(6): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | 189861400 | |||||
chr2:189861415
|
T | C | 13 | a0001c0001t0001g0016a0001c0001t0001g0018a0001c0001t0001g0019others(10): Show | 13 | HG02615.hp2 HG02723.hp2 HG02818.hp2 others(10): Show |
intron_variant | MODIFIER | c.1857-2328T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189861415 | ||||||
chr2:189861497
|
C | T | 2 | a0001c0001t0004g0071a0001c0001t0007g0217 | 2 | HG02647.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.1857-2246C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189861497 | ||||||
chr2:189861508
|
G | C | 1 | a0001c0001t0001g0187 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.1857-2235G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189861508 | ||||||
chr2:189861663
|
C | T | 2 | a0001c0001t0001g0121a0001c0001t0001g0164 | 2 | HG01261.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.1857-2080C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189861663 | ||||||
chr2:189861747
|
CA | C | 111 | a0001c0001t0001g0003a0001c0001t0001g0016a0001c0001t0001g0018others(108): Show | 113 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(110): Show |
intron_variant | MODIFIER | c.1857-1981delA | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | 189861747 | |||||
chr2:189861817
|
G | A | 1 | a0001c0001t0001g0205 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.1857-1926G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189861817 | ||||||
chr2:189861841
|
TC | T | 20 | a0001c0001t0001g0017a0001c0001t0001g0139a0001c0001t0001g0143others(17): Show | 20 | HG00099.hp2 HG00280.hp1 HG00558.hp2 others(17): Show |
intron_variant | MODIFIER | c.1857-1900delC | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | 189861841 | |||||
chr2:189862345
|
A | G | 7 | a0001c0001t0001g0016a0001c0001t0001g0018a0001c0001t0001g0019others(4): Show | 7 | HG03491.hp1 HG03710.hp1 HG03831.hp1 others(4): Show |
intron_variant | MODIFIER | c.1857-1398A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189862345 | ||||||
chr2:189862358
|
G | T | 1 | a0005c0010t0001g0007 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.1857-1385G>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189862358 | ||||||
chr2:189862389
|
T | C | 16 | a0001c0001t0003g0002a0001c0001t0003g0212a0001c0001t0003g0214others(13): Show | 17 | HG01069.hp1 HG01884.hp2 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.1857-1354T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189862389 | ||||||
chr2:189862805
|
C | T | 127 | a0001c0001t0001g0003a0001c0001t0001g0016a0001c0001t0001g0018others(124): Show | 129 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(126): Show |
intron_variant | MODIFIER | c.1857-938C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189862805 | ||||||
chr2:189863247
|
G | GT | 8 | a0001c0001t0001g0148a0001c0001t0001g0156a0001c0001t0001g0157others(5): Show | 8 | HG00733.hp1 HG01257.hp1 HG01943.hp1 others(5): Show |
intron_variant | MODIFIER | c.1857-487dupT | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | 189863247 | |||||
chr2:189863249
|
T | G | 1 | a0001c0001t0002g0108 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.1857-494T>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189863249 | ||||||
chr2:189863258
|
G | GT | 5 | a0001c0001t0001g0136a0001c0001t0001g0159a0001c0001t0001g0166others(2): Show | 5 | HG01255.hp2 HG02148.hp1 HG02723.hp2 others(2): Show |
intron_variant | MODIFIER | c.1857-472dupT | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | 189863258 | |||||
chr2:189863293
|
G | A | 9 | a0001c0001t0002g0074a0001c0001t0002g0075a0001c0001t0002g0076others(6): Show | 9 | HG00733.hp2 HG01346.hp1 HG01928.hp2 others(6): Show |
intron_variant | MODIFIER | c.1857-450G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189863293 | ||||||
chr2:189863326
|
T | C | 7 | a0001c0001t0002g0001a0001c0001t0002g0031a0001c0001t0002g0032others(4): Show | 8 | HG01891.hp1 HG02280.hp2 HG02717.hp2 others(5): Show |
intron_variant | MODIFIER | c.1857-417T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189863326 | ||||||
chr2:189863368
|
C | T | 1 | a0001c0001t0001g0195 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.1857-375C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189863368 | ||||||
chr2:189863407
|
A | G | 17 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0115others(14): Show | 17 | HG02109.hp1 HG02135.hp2 HG02257.hp2 others(14): Show |
intron_variant | MODIFIER | c.1857-336A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189863407 | ||||||
chr2:189864273
|
A | G | 2 | a0001c0001t0002g0084a0001c0001t0002g0085 | 2 | NA18988.hp1 NA19005.hp2 |
intron_variant | MODIFIER | c.2342+45A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864273 | ||||||
chr2:189864380
|
G | A | 4 | a0001c0001t0001g0134a0001c0001t0001g0149a0001c0001t0001g0150others(1): Show | 4 | HG00099.hp1 HG00280.hp2 HG01123.hp1 others(1): Show |
intron_variant | MODIFIER | c.2342+152G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864380 | ||||||
chr2:189864512
|
C | T | 7 | a0001c0001t0001g0016a0001c0001t0001g0018a0001c0001t0001g0019others(4): Show | 7 | HG03491.hp1 HG03710.hp1 HG03831.hp1 others(4): Show |
intron_variant | MODIFIER | c.2342+284C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864512 | ||||||
chr2:189864513
|
G | A | 1 | a0001c0001t0008g0038 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.2342+285G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864513 | ||||||
chr2:189864603
|
C | G | 20 | a0001c0001t0001g0016a0001c0001t0001g0018a0001c0001t0001g0019others(17): Show | 20 | HG02615.hp2 HG02723.hp2 HG02735.hp2 others(17): Show |
intron_variant | MODIFIER | c.2342+375C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864603 | ||||||
chr2:189864657
|
G | GAAAAAAA others(3): Show |
1 | a0001c0001t0001g0177 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.2342+451_2342+460d others(12): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864657 | |||||
chr2:189864657
|
G | GAAAAAAA others(4): Show |
1 | a0001c0001t0001g0187 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.2342+450_2342+460d others(13): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864657 | |||||
chr2:189864657
|
G | GAAAAAAA others(5): Show |
1 | a0001c0001t0001g0138 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.2342+449_2342+460d others(14): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864657 | |||||
chr2:189864657
|
G | GAAAAAAA others(6): Show |
1 | a0001c0001t0001g0147 | 1 | NA18956.hp2 | intron_variant | MODIFIER | c.2342+448_2342+460d others(15): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864657 | |||||
chr2:189864657
|
G | GAAAAAAA others(7): Show |
2 | a0001c0001t0001g0158a0001c0001t0001g0197 | 2 | NA18959.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.2342+447_2342+460d others(16): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864657 | |||||
chr2:189864657
|
G | GAAAAAAA others(8): Show |
3 | a0001c0001t0001g0189a0001c0001t0001g0190a0001c0001t0001g0207 | 3 | HG00642.hp1 HG01069.hp2 HG01255.hp1 |
intron_variant | MODIFIER | c.2342+446_2342+460d others(17): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864657 | |||||
chr2:189864657
|
G | GAAAAAAA others(9): Show |
1 | a0001c0001t0001g0168 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.2342+445_2342+460d others(18): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864657 | |||||
chr2:189864657
|
G | GAAAAAAA others(10): Show |
1 | a0001c0001t0001g0167 | 1 | HG02897.hp2 | intron_variant | MODIFIER | c.2342+444_2342+460d others(19): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864657 | |||||
chr2:189864657
|
G | GAAAAAAA others(11): Show |
2 | a0001c0001t0001g0155a0001c0001t0001g0171 | 2 | HG01496.hp1 NA18956.hp1 |
intron_variant | MODIFIER | c.2342+443_2342+460d others(20): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864657 | |||||
chr2:189864657
|
G | GAAAAAAA others(12): Show |
1 | a0001c0001t0001g0140 | 1 | NA19080.hp1 | intron_variant | MODIFIER | c.2342+442_2342+460d others(21): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864657 | |||||
chr2:189864657
|
G | GAAAAAAA others(15): Show |
1 | a0001c0001t0002g0093 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.2342+439_2342+460d others(24): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864657 | |||||
chr2:189864657
|
G | GAAAAAAA others(18): Show |
1 | a0001c0001t0001g0179 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.2342+436_2342+460d others(27): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864657 | |||||
chr2:189864657
|
G | GAAAAAAA others(20): Show |
1 | a0001c0001t0001g0202 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.2342+434_2342+460d others(29): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864657 | |||||
chr2:189864657
|
G | GAAAAAAA others(27): Show |
1 | a0001c0001t0001g0156 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.2342+460_2342+461i others(36): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864657 | |||||
chr2:189864657
|
G | GAAAAAAA others(32): Show |
1 | a0001c0001t0001g0188 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.2342+460_2342+461i others(41): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864657 | |||||
chr2:189864657
|
G | GAAAAAAA others(33): Show |
1 | a0001c0001t0001g0137 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.2342+460_2342+461i others(42): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864657 | |||||
chr2:189864657
|
GAAAAAAA others(4): Show |
G | 1 | a0001c0001t0001g0198 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.2342+450_2342+460d others(13): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864657 | |||||
chr2:189864675
|
AAAAAAAA others(29): Show |
A | 1 | a0001c0001t0001g0023 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.2342+449_2342+484d others(38): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864675 | |||||
chr2:189864679
|
A | T | 1 | a0001c0001t0001g0180 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.2342+451A>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864679 | ||||||
chr2:189864679
|
AAAAAAAA others(17): Show |
A | 1 | a0001c0001t0003g0214 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.2342+453_2342+476d others(26): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864679 | |||||
chr2:189864680
|
AAAAAAAA others(16): Show |
A | 1 | a0001c0001t0001g0205 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.2342+454_2342+476d others(25): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864680 | |||||
chr2:189864681
|
A | T | 1 | a0001c0001t0001g0180 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.2342+453A>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864681 | ||||||
chr2:189864681
|
AAAAAAAA others(3): Show |
A | 1 | a0001c0001t0001g0204 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.2342+455_2342+464d others(12): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864681 | |||||
chr2:189864681
|
AAAAAAAA others(17): Show |
A | 6 | a0001c0001t0003g0219a0001c0001t0003g0220a0001c0001t0003g0221others(3): Show | 6 | HG01891.hp2 HG02922.hp1 HG03041.hp2 others(3): Show |
intron_variant | MODIFIER | c.2342+455_2342+478d others(26): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864681 | |||||
chr2:189864682
|
AAAAAAAT others(12): Show |
A | 1 | a0001c0001t0001g0164 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.2342+456_2342+474d others(21): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864682 | |||||
chr2:189864683
|
A | T | 2 | a0001c0001t0001g0180a0001c0001t0001g0198 | 2 | HG02602.hp1 HG04115.hp2 |
intron_variant | MODIFIER | c.2342+455A>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864683 | ||||||
chr2:189864683
|
AAAAAATA others(5): Show |
A | 1 | a0001c0001t0001g0175 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.2342+457_2342+468d others(14): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864683 | |||||
chr2:189864683
|
AAAAAATA others(15): Show |
A | 1 | a0001c0001t0001g0206 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.2342+457_2342+478d others(24): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864683 | |||||
chr2:189864683
|
AAAAAATA others(17): Show |
A | 2 | a0001c0001t0003g0002a0001c0001t0003g0218 | 3 | HG01884.hp2 HG02895.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.2342+457_2342+480d others(26): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864683 | |||||
chr2:189864683
|
AAAAAATA others(19): Show |
A | 2 | a0001c0001t0002g0080a0001c0001t0002g0111 | 2 | HG02622.hp1 NA20905.hp1 |
intron_variant | MODIFIER | c.2342+457_2342+482d others(28): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864683 | |||||
chr2:189864684
|
AAAAATAT others(16): Show |
A | 1 | a0001c0001t0003g0223 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.2342+458_2342+480d others(25): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864684 | |||||
chr2:189864684
|
AAAAATAT others(18): Show |
A | 3 | a0001c0001t0002g0086a0001c0001t0002g0087a0001c0001t0002g0097 | 3 | HG00597.hp2 HG02523.hp2 NA18969.hp1 |
intron_variant | MODIFIER | c.2342+458_2342+482d others(27): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864684 | |||||
chr2:189864684
|
AAAAATAT others(20): Show |
A | 4 | a0001c0001t0002g0095a0001c0001t0004g0065a0001c0001t0004g0071others(1): Show | 4 | HG01257.hp2 HG02922.hp2 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.2342+458_2342+484d others(29): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864684 | |||||
chr2:189864684
|
AAAAATAT others(24): Show |
A | 1 | a0001c0001t0002g0091 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.2342+458_2342+488d others(33): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864684 | |||||
chr2:189864685
|
A | T | 3 | a0001c0001t0001g0146a0001c0001t0001g0180a0001c0001t0001g0198 | 3 | HG02083.hp2 HG02602.hp1 HG04115.hp2 |
intron_variant | MODIFIER | c.2342+457A>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864685 | ||||||
chr2:189864685
|
AAAATATA others(3): Show |
A | 1 | a0001c0001t0001g0192 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.2342+459_2342+468d others(12): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864685 | |||||
chr2:189864685
|
AAAATATA others(5): Show |
A | 1 | a0001c0001t0001g0136 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.2342+459_2342+470d others(14): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864685 | |||||
chr2:189864685
|
AAAATATA others(9): Show |
A | 1 | a0001c0001t0002g0040 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.2342+459_2342+474d others(18): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864685 | |||||
chr2:189864685
|
AAAATATA others(11): Show |
A | 1 | a0001c0001t0002g0039 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.2342+459_2342+476d others(20): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864685 | |||||
chr2:189864685
|
AAAATATA others(13): Show |
A | 2 | a0001c0001t0002g0112a0001c0002t0005g0011 | 2 | HG03579.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.2342+459_2342+478d others(22): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864685 | |||||
chr2:189864685
|
AAAATATA others(15): Show |
A | 1 | a0001c0001t0003g0212 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.2342+459_2342+480d others(24): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864685 | |||||
chr2:189864685
|
AAAATATA others(17): Show |
A | 4 | a0001c0001t0001g0172a0001c0001t0002g0075a0001c0001t0002g0083others(1): Show | 4 | HG02109.hp2 HG02148.hp2 HG02165.hp1 others(1): Show |
intron_variant | MODIFIER | c.2342+459_2342+482d others(26): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864685 | |||||
chr2:189864685
|
AAAATATA others(19): Show |
A | 23 | a0001c0001t0002g0074a0001c0001t0002g0077a0001c0001t0002g0078others(20): Show | 23 | HG00733.hp2 HG01258.hp2 HG01346.hp1 others(20): Show |
intron_variant | MODIFIER | c.2342+459_2342+484d others(28): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864685 | |||||
chr2:189864686
|
AAATATAT others(4): Show |
A | 3 | a0001c0001t0001g0021a0001c0003t0001g0014a0001c0003t0001g0044 | 3 | HG02280.hp1 HG02559.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.2342+460_2342+470d others(13): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864686 | |||||
chr2:189864686
|
AAATATAT others(14): Show |
A | 5 | a0001c0001t0001g0121a0001c0001t0001g0135a0001c0001t0002g0079others(2): Show | 5 | HG01069.hp1 HG01261.hp1 HG02486.hp1 others(2): Show |
intron_variant | MODIFIER | c.2342+460_2342+480d others(23): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864686 | |||||
chr2:189864686
|
AAATATAT others(18): Show |
A | 12 | a0001c0001t0002g0076a0001c0001t0002g0081a0001c0001t0002g0082others(9): Show | 12 | HG00544.hp1 HG01928.hp2 HG03516.hp1 others(9): Show |
intron_variant | MODIFIER | c.2342+460_2342+484d others(27): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864686 | |||||
chr2:189864687
|
A | AAAAAAAA others(24): Show |
1 | a0001c0001t0001g0178 | 1 | HG02004.hp2 | intron_variant | MODIFIER | c.2342+460_2342+461i others(33): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864687 | |||||
chr2:189864687
|
A | AAAAAAAA others(28): Show |
1 | a0001c0001t0001g0183 | 1 | HG02273.hp2 | intron_variant | MODIFIER | c.2342+460_2342+461i others(37): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864687 | |||||
chr2:189864687
|
A | AAAAAAAA others(13): Show |
1 | a0001c0001t0001g0210 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.2342+460_2342+461i others(22): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864687 | |||||
chr2:189864687
|
A | AAAAAAAA others(13): Show |
1 | a0001c0001t0001g0006 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.2342+460_2342+461i others(22): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864687 | |||||
chr2:189864687
|
A | AAAAAAAA others(6): Show |
1 | a0001c0001t0001g0129 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.2342+460_2342+461i others(15): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864687 | |||||
chr2:189864687
|
A | AAAATATA others(5): Show |
1 | a0001c0001t0002g0130 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.2342+460_2342+461i others(14): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864687 | |||||
chr2:189864687
|
A | T | 4 | a0001c0001t0001g0146a0001c0001t0001g0180a0001c0001t0001g0198others(1): Show | 4 | HG02083.hp2 HG02602.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.2342+459A>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864687 | ||||||
chr2:189864687
|
AAT | A | 7 | a0001c0001t0001g0116a0001c0001t0001g0118a0001c0001t0001g0153others(4): Show | 7 | HG00140.hp1 HG00423.hp1 HG01981.hp2 others(4): Show |
intron_variant | MODIFIER | c.2342+506_2342+507d others(4): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864687 | |||||
chr2:189864687
|
AATAT | A | 6 | a0001c0001t0001g0113a0001c0001t0001g0115a0001c0001t0001g0125others(3): Show | 6 | HG00280.hp1 HG02630.hp1 HG02886.hp2 others(3): Show |
intron_variant | MODIFIER | c.2342+504_2342+507d others(6): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864687 | |||||
chr2:189864687
|
AATATAT | A | 7 | a0001c0001t0001g0117a0001c0001t0001g0143a0001c0001t0001g0154others(4): Show | 7 | HG01081.hp1 HG01255.hp2 HG02148.hp1 others(4): Show |
intron_variant | MODIFIER | c.2342+502_2342+507d others(8): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864687 | |||||
chr2:189864687
|
AATATATA others(3): Show |
A | 6 | a0001c0001t0001g0020a0001c0001t0001g0122a0001c0001t0001g0128others(3): Show | 6 | HG02896.hp2 HG02976.hp1 HG03209.hp1 others(3): Show |
intron_variant | MODIFIER | c.2342+498_2342+507d others(12): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864687 | |||||
chr2:189864687
|
AATATATA others(5): Show |
A | 3 | a0001c0001t0001g0016a0001c0001t0002g0034a0001c0001t0002g0037 | 3 | HG02280.hp2 HG02717.hp2 HG03942.hp2 |
intron_variant | MODIFIER | c.2342+496_2342+507d others(14): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864687 | |||||
chr2:189864687
|
AATATATA others(7): Show |
A | 4 | a0001c0001t0002g0001a0001c0001t0002g0032a0001c0001t0002g0036others(1): Show | 5 | HG01891.hp1 HG02630.hp2 NA18906.hp2 others(2): Show |
intron_variant | MODIFIER | c.2342+494_2342+507d others(16): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864687 | |||||
chr2:189864687
|
AATATATA others(9): Show |
A | 3 | a0001c0001t0001g0123a0001c0001t0001g0181a0001c0001t0002g0054 | 3 | HG02074.hp1 HG02074.hp2 HG02970.hp1 |
intron_variant | MODIFIER | c.2342+492_2342+507d others(18): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864687 | |||||
chr2:189864687
|
AATATATA others(11): Show |
A | 2 | a0001c0001t0001g0022a0001c0001t0001g0196 | 2 | HG02055.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.2342+490_2342+507d others(20): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864687 | |||||
chr2:189864687
|
AATATATA others(15): Show |
A | 2 | a0001c0001t0002g0033a0001c0001t0004g0133 | 2 | HG02886.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.2342+486_2342+507d others(24): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864687 | |||||
chr2:189864687
|
AATATATA others(17): Show |
A | 3 | a0001c0001t0001g0003a0001c0001t0002g0090a0003c0004t0001g0228 | 3 | HG02895.hp2 NA19043.hp2 NA19057.hp2 |
intron_variant | MODIFIER | c.2342+484_2342+507d others(26): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864687 | |||||
chr2:189864688
|
AT | A | 7 | a0001c0001t0001g0017a0001c0001t0001g0162a0001c0001t0001g0193others(4): Show | 7 | HG02155.hp2 HG03710.hp2 NA18522.hp1 others(4): Show |
intron_variant | MODIFIER | c.2342+461delT | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864688 | ||||||
chr2:189864688
|
ATAT | A | 2 | a0001c0001t0002g0045a0007c0008t0001g0004 | 2 | HG00099.hp2 HG01884.hp1 |
intron_variant | MODIFIER | c.2342+461_2342+463d others(5): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864688 | ||||||
chr2:189864688
|
ATATATAT | A | 2 | a0001c0001t0001g0195a0001c0001t0002g0053 | 2 | HG02155.hp1 NA18948.hp1 |
intron_variant | MODIFIER | c.2342+461_2342+467d others(9): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864688 | ||||||
chr2:189864688
|
ATATATAT others(2): Show |
A | 3 | a0001c0001t0001g0026a0001c0001t0002g0029a0001c0001t0002g0058 | 3 | NA18962.hp1 NA18988.hp2 NA19079.hp1 |
intron_variant | MODIFIER | c.2342+461_2342+469d others(11): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864688 | ||||||
chr2:189864688
|
ATATATAT others(4): Show |
A | 3 | a0001c0001t0001g0018a0001c0001t0002g0028a0001c0001t0002g0030 | 3 | HG00558.hp2 HG02165.hp2 HG03710.hp1 |
intron_variant | MODIFIER | c.2342+461_2342+471d others(13): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864688 | ||||||
chr2:189864688
|
ATATATAT others(6): Show |
A | 2 | a0001c0001t0008g0038a0001c0003t0001g0041 | 2 | HG01081.hp2 HG02735.hp2 |
intron_variant | MODIFIER | c.2342+461_2342+473d others(15): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864688 | ||||||
chr2:189864688
|
ATATATAT others(8): Show |
A | 3 | a0001c0001t0001g0124a0001c0001t0001g0149a0001c0001t0002g0051 | 3 | HG00099.hp1 HG01123.hp2 HG02257.hp2 |
intron_variant | MODIFIER | c.2342+461_2342+475d others(17): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864688 | ||||||
chr2:189864688
|
ATATATAT others(12): Show |
A | 3 | a0001c0002t0001g0009a0001c0002t0001g0012a0001c0002t0001g0013 | 3 | HG02055.hp1 HG03225.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.2342+461_2342+479d others(21): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864688 | ||||||
chr2:189864688
|
ATATATAT others(16): Show |
A | 4 | a0001c0001t0002g0043a0001c0001t0002g0049a0001c0001t0002g0088others(1): Show | 4 | HG02717.hp1 HG02970.hp2 NA18964.hp2 others(1): Show |
intron_variant | MODIFIER | c.2342+461_2342+483d others(25): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864688 | ||||||
chr2:189864688
|
ATATATAT others(18): Show |
A | 4 | a0001c0001t0001g0025a0001c0001t0002g0084a0001c0001t0002g0085others(1): Show | 4 | HG02897.hp1 NA18951.hp2 NA18988.hp1 others(1): Show |
intron_variant | MODIFIER | c.2342+461_2342+485d others(27): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864688 | ||||||
chr2:189864689
|
T | A | 31 | a0001c0001t0001g0114a0001c0001t0001g0127a0001c0001t0001g0134others(28): Show | 31 | HG00280.hp2 HG00544.hp2 HG00558.hp1 others(28): Show |
intron_variant | MODIFIER | c.2342+461T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864689 | ||||||
chr2:189864691
|
T | A | 33 | a0001c0001t0001g0017a0001c0001t0001g0114a0001c0001t0001g0116others(30): Show | 33 | HG00140.hp1 HG00423.hp1 HG01123.hp1 others(30): Show |
intron_variant | MODIFIER | c.2342+463T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864691 | ||||||
chr2:189864693
|
T | A | 35 | a0001c0001t0001g0017a0001c0001t0001g0113a0001c0001t0001g0114others(32): Show | 35 | HG00099.hp2 HG00140.hp1 HG00423.hp1 others(32): Show |
intron_variant | MODIFIER | c.2342+465T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864693 | ||||||
chr2:189864695
|
T | A | 25 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0115others(22): Show | 25 | HG00423.hp1 HG01255.hp1 HG01255.hp2 others(22): Show |
intron_variant | MODIFIER | c.2342+467T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864695 | ||||||
chr2:189864697
|
T | A | 13 | a0001c0001t0001g0019a0001c0001t0001g0113a0001c0001t0001g0115others(10): Show | 13 | HG00423.hp1 HG01255.hp1 HG03098.hp1 others(10): Show |
intron_variant | MODIFIER | c.2342+469T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864697 | ||||||
chr2:189864699
|
T | A | 12 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0118others(9): Show | 12 | HG01255.hp1 HG02896.hp2 HG02976.hp1 others(9): Show |
intron_variant | MODIFIER | c.2342+471T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864699 | ||||||
chr2:189864701
|
T | A | 9 | a0001c0001t0001g0016a0001c0001t0001g0018a0001c0001t0001g0122others(6): Show | 9 | HG00558.hp2 HG02165.hp2 HG02280.hp2 others(6): Show |
intron_variant | MODIFIER | c.2342+473T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864701 | ||||||
chr2:189864703
|
T | A | 5 | a0001c0001t0001g0018a0001c0001t0002g0036a0001c0001t0002g0060others(2): Show | 5 | HG02630.hp2 HG02735.hp2 HG02896.hp2 others(2): Show |
intron_variant | MODIFIER | c.2342+475T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864703 | ||||||
chr2:189864705
|
T | A | 2 | a0001c0001t0001g0149a0001c0001t0003g0213 | 2 | HG00099.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.2342+477T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864705 | ||||||
chr2:189864707
|
T | A | 3 | a0001c0001t0001g0022a0001c0001t0001g0196a0001c0001t0003g0213 | 3 | HG02055.hp2 HG03098.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.2342+479T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864707 | ||||||
chr2:189864709
|
T | A | 2 | a0001c0001t0003g0213a0001c0002t0001g0013 | 2 | HG02055.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.2342+481T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864709 | ||||||
chr2:189864711
|
T | A | 3 | a0001c0001t0003g0213a0001c0001t0004g0133a0001c0002t0001g0013 | 3 | HG02055.hp1 HG03098.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.2342+483T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864711 | ||||||
chr2:189864713
|
T | A | 4 | a0001c0001t0001g0003a0001c0001t0002g0043a0001c0001t0003g0213others(1): Show | 4 | HG02895.hp2 HG02970.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.2342+485T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864713 | ||||||
chr2:189864783
|
C | G | 20 | a0001c0001t0001g0016a0001c0001t0001g0018a0001c0001t0001g0019others(17): Show | 20 | HG02615.hp2 HG02723.hp2 HG02735.hp2 others(17): Show |
intron_variant | MODIFIER | c.2342+555C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864783 | ||||||
chr2:189865014
|
G | A | 1 | a0001c0001t0001g0003 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.2342+786G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189865014 | ||||||
chr2:189865079
|
C | T | 2 | a0001c0001t0003g0212a0008c0007t0001g0005 | 2 | HG02109.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.2342+851C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189865079 | ||||||
chr2:189865323
|
G | A | 130 | a0001c0001t0001g0003a0001c0001t0001g0016a0001c0001t0001g0018others(127): Show | 132 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(129): Show |
intron_variant | MODIFIER | c.2342+1095G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189865323 | ||||||
chr2:189865399
|
G | A | 1 | a0001c0001t0001g0026 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.2342+1171G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189865399 | ||||||
chr2:189865743
|
T | C | 18 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0115others(15): Show | 18 | HG02109.hp1 HG02135.hp2 HG02257.hp2 others(15): Show |
intron_variant | MODIFIER | c.2342+1515T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189865743 | ||||||
chr2:189865834
|
T | A | 2 | a0001c0001t0001g0206a0001c0001t0002g0112 | 2 | HG02965.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.2342+1606T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189865834 | ||||||
chr2:189866297
|
T | A | 1 | a0007c0008t0001g0004 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.2343-1502T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189866297 | ||||||
chr2:189866471
|
A | C | 1 | a0001c0001t0002g0100 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.2343-1328A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189866471 | ||||||
chr2:189866913
|
T | C | 37 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0115others(34): Show | 38 | HG01069.hp1 HG01884.hp2 HG01891.hp2 others(35): Show |
intron_variant | MODIFIER | c.2343-886T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189866913 | ||||||
chr2:189866934
|
T | C | 1 | a0001c0001t0002g0040 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.2343-865T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189866934 | ||||||
chr2:189866991
|
T | A | 2 | a0001c0001t0001g0189a0001c0001t0001g0190 | 2 | HG00642.hp1 HG01069.hp2 |
intron_variant | MODIFIER | c.2343-808T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189866991 | ||||||
chr2:189867051
|
G | C | 2 | a0001c0001t0002g0084a0001c0001t0002g0085 | 2 | NA18988.hp1 NA19005.hp2 |
intron_variant | MODIFIER | c.2343-748G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189867051 | ||||||
chr2:189867067
|
C | G | 2 | a0001c0001t0001g0206a0001c0001t0002g0112 | 2 | HG02965.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.2343-732C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189867067 | ||||||
chr2:189867106
|
A | G | 129 | a0001c0001t0001g0003a0001c0001t0001g0016a0001c0001t0001g0018others(126): Show | 131 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(128): Show |
intron_variant | MODIFIER | c.2343-693A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189867106 | ||||||
chr2:189867140
|
A | G | 1 | a0001c0001t0001g0205 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.2343-659A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189867140 | ||||||
chr2:189867241
|
C | G | 20 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0115others(17): Show | 20 | HG02109.hp1 HG02135.hp2 HG02257.hp2 others(17): Show |
intron_variant | MODIFIER | c.2343-558C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189867241 | ||||||
chr2:189867486
|
T | G | 5 | a0002c0005t0001g0227a0002c0005t0001g0230a0003c0004t0001g0228others(2): Show | 5 | HG02895.hp2 HG02897.hp1 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.2343-313T>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189867486 | ||||||
chr2:189867534
|
TAGAG | T | 65 | a0001c0001t0001g0003a0001c0001t0001g0023a0001c0001t0001g0025others(62): Show | 65 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(62): Show |
intron_variant | MODIFIER | c.2343-260_2343-257d others(6): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189867534 | |||||
chr2:189867555
|
T | C | 3 | a0001c0001t0002g0028a0001c0001t0002g0029a0001c0001t0002g0030 | 3 | HG00558.hp2 HG02165.hp2 NA18962.hp1 |
intron_variant | MODIFIER | c.2343-244T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189867555 | ||||||
chr2:189867708
|
A | G | 1 | a0001c0001t0002g0059 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.2343-91A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189867708 | ||||||
chr2:189867758
|
T | G | 1 | a0001c0001t0001g0184 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.2343-41T>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189867758 | ||||||
chr2:189868066
|
C | A | 1 | a0005c0010t0001g0007 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.2473+137C>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189868066 | ||||||
chr2:189868155
|
A | C | 16 | a0001c0001t0003g0002a0001c0001t0003g0212a0001c0001t0003g0214others(13): Show | 17 | HG01069.hp1 HG01884.hp2 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.2473+226A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189868155 | ||||||
chr2:189868569
|
C | A | 2 | a0001c0002t0005g0008a0001c0002t0005g0011 | 2 | HG03471.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.2473+640C>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189868569 | ||||||
chr2:189868661
|
A | G | 2 | a0001c0001t0001g0159a0001c0001t0001g0160 | 2 | NA18967.hp2 NA19068.hp1 |
intron_variant | MODIFIER | c.2473+732A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189868661 | ||||||
chr2:189868672
|
G | A | 18 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0115others(15): Show | 18 | HG02109.hp1 HG02135.hp2 HG02257.hp2 others(15): Show |
intron_variant | MODIFIER | c.2473+743G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189868672 | ||||||
chr2:189869140
|
C | T | 1 | a0001c0001t0001g0139 | 1 | NA18962.hp2 | intron_variant | MODIFIER | c.2473+1211C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189869140 | ||||||
chr2:189869224
|
A | G | 1 | a0001c0001t0001g0142 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.2473+1295A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189869224 | ||||||
chr2:189869409
|
G | A | 1 | a0001c0001t0001g0206 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.2473+1480G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189869409 | ||||||
chr2:189869492
|
G | A | 19 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0115others(16): Show | 19 | HG02109.hp1 HG02135.hp2 HG02155.hp2 others(16): Show |
intron_variant | MODIFIER | c.2473+1563G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189869492 | ||||||
chr2:189869563
|
T | C | 1 | a0001c0001t0001g0134 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.2473+1634T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189869563 | ||||||
chr2:189869635
|
G | A | 16 | a0001c0001t0002g0089a0001c0001t0004g0061a0001c0001t0004g0062others(13): Show | 16 | HG02451.hp1 HG02486.hp2 HG02559.hp2 others(13): Show |
intron_variant | MODIFIER | c.2473+1706G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189869635 | ||||||
chr2:189869642
|
T | C | 130 | a0001c0001t0001g0003a0001c0001t0001g0016a0001c0001t0001g0018others(127): Show | 132 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(129): Show |
intron_variant | MODIFIER | c.2473+1713T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189869642 | ||||||
chr2:189869680
|
T | A | 16 | a0001c0001t0003g0002a0001c0001t0003g0212a0001c0001t0003g0214others(13): Show | 17 | HG01069.hp1 HG01884.hp2 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.2473+1751T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189869680 | ||||||
chr2:189869710
|
G | C | 1 | a0005c0010t0001g0007 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.2473+1781G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189869710 | ||||||
chr2:189869773
|
C | T | 1 | a0001c0001t0001g0147 | 1 | NA18956.hp2 | intron_variant | MODIFIER | c.2473+1844C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189869773 | ||||||
chr2:189869816
|
T | TA | 78 | a0001c0001t0001g0003a0001c0001t0001g0023a0001c0001t0001g0025others(75): Show | 78 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(75): Show |
intron_variant | MODIFIER | c.2473+1904dupA | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr2 | 189869816 | |||||
chr2:189869816
|
TA | T | 22 | a0001c0001t0001g0016a0001c0001t0001g0018a0001c0001t0001g0019others(19): Show | 22 | HG02165.hp2 HG02280.hp1 HG02615.hp2 others(19): Show |
intron_variant | MODIFIER | c.2473+1904delA | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr2 | 189869816 | |||||
chr2:189869981
|
A | T | 18 | a0001c0001t0001g0206a0001c0001t0002g0112a0001c0001t0003g0002others(15): Show | 19 | HG01069.hp1 HG01884.hp2 HG01891.hp2 others(16): Show |
intron_variant | MODIFIER | c.2473+2052A>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189869981 | ||||||
chr2:189870004
|
T | C | 4 | a0001c0002t0001g0009a0001c0002t0001g0010a0001c0002t0001g0012others(1): Show | 4 | HG01069.hp1 HG02055.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.2473+2075T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189870004 | ||||||
chr2:189870029
|
A | G | 20 | a0001c0001t0001g0016a0001c0001t0001g0018a0001c0001t0001g0019others(17): Show | 20 | HG02615.hp2 HG02723.hp2 HG02735.hp2 others(17): Show |
intron_variant | MODIFIER | c.2473+2100A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189870029 | ||||||
chr2:189870055
|
TG | T | 9 | a0001c0001t0001g0143a0001c0001t0001g0186a0001c0001t0002g0043others(6): Show | 9 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(6): Show |
intron_variant | MODIFIER | c.2473+2127delG | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189870055 | ||||||
chr2:189870073
|
C | G | 1 | a0001c0001t0001g0006 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.2473+2144C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189870073 | ||||||
chr2:189870373
|
C | T | 1 | a0001c0001t0001g0162 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.2473+2444C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189870373 | ||||||
chr2:189870548
|
A | T | 9 | a0001c0001t0002g0001a0001c0001t0002g0031a0001c0001t0002g0032others(6): Show | 10 | HG01891.hp1 HG02280.hp2 HG02630.hp2 others(7): Show |
intron_variant | MODIFIER | c.2473+2619A>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189870548 | ||||||
chr2:189870600
|
A | C | 1 | a0001c0001t0002g0060 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.2473+2671A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189870600 | ||||||
chr2:189870934
|
C | T | 65 | a0001c0001t0001g0003a0001c0001t0001g0023a0001c0001t0001g0025others(62): Show | 65 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(62): Show |
intron_variant | MODIFIER | c.2474-2562C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189870934 | ||||||
chr2:189871004
|
T | C | 20 | a0001c0001t0001g0016a0001c0001t0001g0018a0001c0001t0001g0019others(17): Show | 20 | HG02615.hp2 HG02723.hp2 HG02735.hp2 others(17): Show |
intron_variant | MODIFIER | c.2474-2492T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189871004 | ||||||
chr2:189871142
|
C | T | 1 | a0001c0001t0002g0060 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.2474-2354C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189871142 | ||||||
chr2:189871303
|
C | G | 4 | a0001c0003t0001g0014a0001c0003t0001g0041a0001c0003t0001g0042others(1): Show | 4 | HG01081.hp2 HG02280.hp1 HG02559.hp1 others(1): Show |
intron_variant | MODIFIER | c.2474-2193C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189871303 | ||||||
chr2:189871378
|
T | C | 62 | a0001c0001t0001g0016a0001c0001t0001g0018a0001c0001t0001g0019others(59): Show | 64 | HG01069.hp1 HG01884.hp2 HG01891.hp1 others(61): Show |
intron_variant | MODIFIER | c.2474-2118T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189871378 | ||||||
chr2:189872055
|
C | G | 2 | a0001c0001t0001g0191a0001c0001t0001g0192 | 2 | HG00140.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.2474-1441C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189872055 | ||||||
chr2:189872118
|
T | G | 130 | a0001c0001t0001g0003a0001c0001t0001g0016a0001c0001t0001g0018others(127): Show | 132 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(129): Show |
intron_variant | MODIFIER | c.2474-1378T>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189872118 | ||||||
chr2:189872230
|
C | G | 1 | a0001c0001t0001g0113 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.2474-1266C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189872230 | ||||||
chr2:189872490
|
C | T | 12 | a0001c0001t0003g0002a0001c0001t0003g0212a0001c0001t0003g0214others(9): Show | 13 | HG01884.hp2 HG01891.hp2 HG02109.hp2 others(10): Show |
intron_variant | MODIFIER | c.2474-1006C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189872490 | ||||||
chr2:189872624
|
GTTTTA | G | 6 | a0001c0001t0001g0003a0001c0001t0001g0023a0001c0001t0004g0133others(3): Show | 6 | HG02717.hp1 HG03471.hp1 NA19030.hp2 others(3): Show |
intron_variant | MODIFIER | c.2474-852_2474-848d others(7): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr2 | 189872624 | |||||
chr2:189872690
|
T | C | 1 | a0001c0001t0001g0023 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.2474-806T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189872690 | ||||||
chr2:189872724
|
C | T | 4 | a0001c0002t0001g0009a0001c0002t0001g0010a0001c0002t0001g0012others(1): Show | 4 | HG01069.hp1 HG02055.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.2474-772C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189872724 | ||||||
chr2:189872883
|
C | T | 8 | a0001c0001t0002g0001a0001c0001t0002g0031a0001c0001t0002g0032others(5): Show | 9 | HG01891.hp1 HG02280.hp2 HG02717.hp2 others(6): Show |
intron_variant | MODIFIER | c.2474-613C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189872883 | ||||||
chr2:189872902
|
A | T | 1 | a0005c0010t0001g0007 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.2474-594A>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189872902 | ||||||
chr2:189872903
|
G | T | 1 | a0005c0010t0001g0007 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.2474-593G>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189872903 | ||||||
chr2:189873112
|
G | A | 1 | a0001c0001t0001g0176 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.2474-384G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189873112 | ||||||
chr2:189873259
|
A | G | 1 | a0007c0008t0001g0004 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.2474-237A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189873259 | ||||||
chr2:189873762
|
G | C | 1 | a0001c0001t0002g0082 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.2634+106G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189873762 | ||||||
chr2:189873907
|
C | T | 1 | a0001c0001t0001g0169 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.2634+251C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189873907 | ||||||
chr2:189874082
|
A | G | 13 | a0001c0001t0001g0016a0001c0001t0001g0018a0001c0001t0001g0019others(10): Show | 13 | HG02615.hp2 HG02723.hp2 HG02818.hp2 others(10): Show |
intron_variant | MODIFIER | c.2634+426A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189874082 | ||||||
chr2:189874156
|
ACT | A | 3 | a0002c0005t0001g0230a0003c0004t0001g0228a0003c0004t0001g0229 | 3 | HG02895.hp2 HG02897.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.2634+503_2634+504d others(4): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr2 | 189874156 | |||||
chr2:189874286
|
A | C | 36 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0115others(33): Show | 37 | HG01069.hp1 HG01884.hp2 HG01891.hp2 others(34): Show |
intron_variant | MODIFIER | c.2634+630A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189874286 | ||||||
chr2:189874288
|
C | A | 128 | a0001c0001t0001g0003a0001c0001t0001g0016a0001c0001t0001g0018others(125): Show | 130 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(127): Show |
intron_variant | MODIFIER | c.2634+632C>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189874288 | ||||||
chr2:189874312
|
C | G | 18 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0115others(15): Show | 18 | HG02109.hp1 HG02135.hp2 HG02257.hp2 others(15): Show |
intron_variant | MODIFIER | c.2634+656C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189874312 | ||||||
chr2:189874408
|
G | A | 1 | a0001c0001t0002g0058 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.2634+752G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189874408 | ||||||
chr2:189874523
|
C | T | 2 | a0001c0001t0001g0135a0001c0001t0001g0205 | 2 | HG02615.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.2634+867C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189874523 | ||||||
chr2:189874616
|
C | T | 1 | a0001c0001t0001g0145 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.2634+960C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189874616 | ||||||
chr2:189874761
|
T | C | 4 | a0001c0001t0001g0121a0001c0001t0001g0135a0001c0001t0001g0164others(1): Show | 4 | HG01261.hp1 HG02615.hp1 HG03098.hp2 others(1): Show |
intron_variant | MODIFIER | c.2634+1105T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189874761 | ||||||
chr2:189874907
|
A | G | 1 | a0005c0010t0001g0007 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.2634+1251A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189874907 | ||||||
chr2:189874931
|
T | A | 16 | a0001c0001t0003g0002a0001c0001t0003g0212a0001c0001t0003g0214others(13): Show | 17 | HG01069.hp1 HG01884.hp2 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.2634+1275T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189874931 | ||||||
chr2:189875057
|
C | T | 12 | a0001c0001t0003g0002a0001c0001t0003g0212a0001c0001t0003g0214others(9): Show | 13 | HG01884.hp2 HG01891.hp2 HG02109.hp2 others(10): Show |
intron_variant | MODIFIER | c.2634+1401C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189875057 | ||||||
chr2:189875058
|
G | A | 1 | a0001c0001t0003g0213 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.2634+1402G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189875058 | ||||||
chr2:189875311
|
C | T | 1 | a0001c0001t0002g0092 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.2634+1655C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189875311 | ||||||
chr2:189875345
|
G | A | 2 | a0001c0001t0001g0206a0001c0001t0002g0112 | 2 | HG02965.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.2634+1689G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189875345 | ||||||
chr2:189875388
|
G | A | 1 | a0001c0001t0008g0038 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.2634+1732G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189875388 | ||||||
chr2:189875391
|
C | T | 4 | a0001c0001t0001g0146a0001c0001t0001g0201a0001c0001t0001g0203others(1): Show | 4 | HG02083.hp2 HG03834.hp2 NA18982.hp2 others(1): Show |
intron_variant | MODIFIER | c.2634+1735C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189875391 | ||||||
chr2:189875441
|
T | A | 1 | a0001c0001t0002g0079 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.2634+1785T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189875441 | ||||||
chr2:189875589
|
G | C | 27 | a0001c0001t0001g0016a0001c0001t0001g0018a0001c0001t0001g0019others(24): Show | 28 | HG01891.hp1 HG02280.hp2 HG02615.hp2 others(25): Show |
intron_variant | MODIFIER | c.2635-1683G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189875589 | ||||||
chr2:189875747
|
G | T | 1 | a0001c0001t0008g0038 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.2635-1525G>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189875747 | ||||||
chr2:189875955
|
C | CA | 54 | a0001c0001t0001g0023a0001c0001t0001g0025a0001c0001t0001g0121others(51): Show | 54 | HG00544.hp1 HG00597.hp1 HG00597.hp2 others(51): Show |
intron_variant | MODIFIER | c.2635-1292dupA | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr2 | 189875955 | |||||
chr2:189875955
|
C | CAA | 25 | a0001c0001t0001g0021a0001c0001t0001g0164a0001c0001t0001g0187others(22): Show | 25 | HG00423.hp2 HG00544.hp2 HG00733.hp2 others(22): Show |
intron_variant | MODIFIER | c.2635-1293_2635-129 others(6): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr2 | 189875955 | |||||
chr2:189875955
|
C | CAAA | 27 | a0001c0001t0001g0003a0001c0001t0001g0018a0001c0001t0001g0019others(24): Show | 27 | HG01981.hp1 HG02109.hp1 HG02257.hp2 others(24): Show |
intron_variant | MODIFIER | c.2635-1294_2635-129 others(7): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr2 | 189875955 | |||||
chr2:189875955
|
C | CAAAA | 18 | a0001c0001t0001g0016a0001c0001t0001g0117a0001c0001t0001g0118others(15): Show | 19 | HG01891.hp1 HG02135.hp2 HG02280.hp2 others(16): Show |
intron_variant | MODIFIER | c.2635-1295_2635-129 others(8): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr2 | 189875955 | |||||
chr2:189875955
|
C | CAAAAAA | 6 | a0001c0001t0003g0002a0001c0001t0003g0218a0001c0001t0003g0221others(3): Show | 7 | HG01884.hp2 HG02109.hp2 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.2635-1297_2635-129 others(10): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr2 | 189875955 | |||||
chr2:189875955
|
C | CAAAAAAA | 5 | a0001c0001t0002g0036a0001c0001t0003g0212a0001c0001t0003g0219others(2): Show | 5 | HG01891.hp2 HG02145.hp1 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.2635-1298_2635-129 others(11): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr2 | 189875955 | |||||
chr2:189876051
|
A | ACTGT | 130 | a0001c0001t0001g0003a0001c0001t0001g0016a0001c0001t0001g0018others(127): Show | 132 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(129): Show |
intron_variant | MODIFIER | c.2635-1218_2635-121 others(8): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr2 | 189876051 | |||||
chr2:189876158
|
A | C | 1 | a0009c0006t0001g0232 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.2635-1114A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189876158 | ||||||
chr2:189876171
|
T | C | 1 | a0007c0008t0001g0004 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.2635-1101T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189876171 | ||||||
chr2:189876174
|
T | C | 16 | a0001c0001t0003g0002a0001c0001t0003g0212a0001c0001t0003g0214others(13): Show | 17 | HG01069.hp1 HG01884.hp2 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.2635-1098T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189876174 | ||||||
chr2:189876594
|
T | C | 4 | a0001c0001t0001g0137a0001c0001t0001g0142a0001c0001t0001g0154others(1): Show | 4 | NA18956.hp1 NA18983.hp1 NA19003.hp2 others(1): Show |
intron_variant | MODIFIER | c.2635-678T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189876594 | ||||||
chr2:189876652
|
A | C | 2 | a0001c0001t0001g0135a0001c0001t0001g0205 | 2 | HG02615.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.2635-620A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189876652 | ||||||
chr2:189876663
|
C | A | 1 | a0005c0010t0001g0007 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.2635-609C>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189876663 | ||||||
chr2:189876747
|
A | G | 1 | a0001c0001t0001g0194 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.2635-525A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189876747 | ||||||
chr2:189876770
|
C | CT | 10 | a0001c0001t0001g0148a0001c0001t0001g0153a0001c0001t0001g0186others(7): Show | 10 | HG00423.hp1 HG00558.hp2 HG01943.hp1 others(7): Show |
intron_variant | MODIFIER | c.2635-480dupT | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr2 | 189876770 | |||||
chr2:189876770
|
CT | C | 44 | a0001c0001t0001g0016a0001c0001t0001g0018a0001c0001t0001g0019others(41): Show | 45 | HG01069.hp1 HG01884.hp2 HG02109.hp1 others(42): Show |
intron_variant | MODIFIER | c.2635-480delT | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr2 | 189876770 | |||||
chr2:189876966
|
A | G | 6 | a0001c0001t0001g0163a0001c0001t0001g0170a0001c0001t0001g0177others(3): Show | 6 | HG01261.hp2 HG01346.hp2 HG02004.hp2 others(3): Show |
intron_variant | MODIFIER | c.2635-306A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189876966 | ||||||
chr2:189876967
|
C | T | 3 | a0002c0005t0001g0230a0003c0004t0001g0228a0003c0004t0001g0229 | 3 | HG02895.hp2 HG02897.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.2635-305C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189876967 | ||||||
chr2:189877007
|
G | A | 2 | a0001c0001t0002g0088a0001c0001t0002g0090 | 2 | NA18964.hp2 NA19057.hp2 |
intron_variant | MODIFIER | c.2635-265G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189877007 | ||||||
chr2:189877016
|
A | G | 17 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0115others(14): Show | 17 | HG02109.hp1 HG02135.hp2 HG02257.hp2 others(14): Show |
intron_variant | MODIFIER | c.2635-256A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189877016 | ||||||
chr2:189877046
|
T | G | 1 | a0001c0001t0002g0090 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.2635-226T>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189877046 | ||||||
chr2:189877117
|
C | T | 1 | a0005c0010t0001g0007 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.2635-155C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189877117 | ||||||
chr2:189877128
|
A | C | 1 | a0001c0001t0002g0102 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.2635-144A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189877128 |